Raras
Buscar doenças, sintomas, genes...
Síndrome Cowden
ORPHA:201CID-10 · Q85.8CID-11 · LD2D.YDOENÇA RARA

Uma genodermatose (doença genética que afeta a pele e outros tecidos) caracterizada pela presença de múltiplos crescimentos anormais, mas geralmente benignos (conhecidos como hamartomas), em várias partes do corpo. Também aumenta o risco de desenvolver cânceres na mama, tireoide, endométrio (revestimento interno do útero), rim e colorretal (intestino grosso e reto). Quando esta condição (Síndrome de Cowden ou CS) é acompanhada por mutações genéticas hereditárias no gene PTEN, ela é classificada no grupo da síndrome de tumores hamartomatosos PTEN (PHTS).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Uma genodermatose (doença genética que afeta a pele e outros tecidos) caracterizada pela presença de múltiplos crescimentos anormais, mas geralmente benignos (conhecidos como hamartomas), em várias partes do corpo. Também aumenta o risco de desenvolver cânceres na mama, tireoide, endométrio (revestimento interno do útero), rim e colorretal (intestino grosso e reto). Quando esta condição (Síndrome de Cowden ou CS) é acompanhada por mutações genéticas hereditárias no gene PTEN, ela é classificada no grupo da síndrome de tumores hamartomatosos PTEN (PHTS).

Pesquisas ativas
3 ensaios
15 total registrados no ClinicalTrials.gov
Publicações científicas
893 artigos
Último publicado: 2026 Apr 15

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.45
Netherlands
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q85.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

📏
Crescimento
13 sintomas
🧠
Neurológico
12 sintomas
🦴
Ossos e articulações
10 sintomas
🧬
Pele e cabelo
9 sintomas
🫘
Rins
4 sintomas
😀
Face
4 sintomas

+ 36 sintomas em outras categorias

Características mais comuns

90%prev.
Hiperceratose generalizada
Muito frequente (99-80%)
90%prev.
Mácula
Muito frequente (99-80%)
90%prev.
Papiloma
Muito frequente (99-80%)
90%prev.
Hamartoma conjuntival
Muito frequente (99-80%)
90%prev.
Pápula
Muito frequente (99-80%)
90%prev.
Neoplasia da pele
Muito frequente (99-80%)
97sintomas
Muito frequente (10)
Frequente (19)
Ocasional (28)
Sem dados (40)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 97 características clínicas mais associadas, ordenadas por frequência.

Hiperceratose generalizadaGeneralized hyperkeratosis
Muito frequente (99-80%)90%
MáculaMacule
Muito frequente (99-80%)90%
PapilomaPapilloma
Muito frequente (99-80%)90%
Hamartoma conjuntivalConjunctival hamartoma
Muito frequente (99-80%)90%
PápulaPapule
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico893PubMed
Últimos 10 anos200publicações
Pico202548 papers
Linha do tempo
2026Hoje · 2026🧪 2002Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

9 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

USF3Basic helix-loop-helix domain-containing protein USF3Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Involved in the negative regulation of epithelial-mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced migration and invasive properties

LOCALIZAÇÃO

Nucleus

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
7.8 TPM
Cerebelo
7.8 TPM
Músculo esquelético
6.4 TPM
Nervo tibial
5.9 TPM
Tireoide
5.7 TPM
OUTRAS DOENÇAS (1)
Cowden disease
HGNC:30494UniProt:Q68DE3
KLLNKillinDisease-causing germline mutation(s) inDesconhecido
FUNÇÃO

DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Cowden syndrome 4

A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.

EXPRESSÃO TECIDUAL(Baixa expressão)
Linfócitos
4.6 TPM
Testículo
2.1 TPM
Nervo tibial
1.6 TPM
Pituitária
1.3 TPM
Fallopian Tube
1.2 TPM
OUTRAS DOENÇAS (3)
Cowden syndrome 4hereditary breast carcinomaCowden disease
HGNC:37212UniProt:B2CW77
AKT1RAC-alpha serine/threonine-protein kinaseDisease-causing germline mutation(s) (gain of function) inAltamente restrito
FUNÇÃO

AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis (PubMed:11882383, PubMed:15526160, PubMed:15861136, PubMed:21432781, PubMed:21620960, PubMed:31204173). This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates (PubMed:11882383, PubMed:15526160, PubMed:21432781, PubMed:21620960, PubMe

LOCALIZAÇÃO

CytoplasmNucleusCell membraneMitochondrion intermembrane space

VIAS BIOLÓGICAS (7)
CD28 dependent PI3K/Akt signalingVEGFR2 mediated vascular permeabilityPIP3 activates AKT signalingNegative regulation of the PI3K/AKT networkG beta:gamma signalling through PI3Kgamma
MECANISMO DE DOENÇA

Breast cancer

A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.

OUTRAS DOENÇAS (7)
ovarian cancerProteus syndromehereditary breast carcinomacolorectal cancer
HGNC:391UniProt:P31749
SDHDSuccinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrialDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:10482792, PubMed:9533030). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (3)
Maturation of TCA enzymes and regulation of TCA cycleCitric acid cycle (TCA cycle)Respiratory electron transport
MECANISMO DE DOENÇA

Pheochromocytoma/paraganglioma syndrome 1

A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL1 inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Ubíquo)
Rim - Medula
91.4 TPM
Músculo esquelético
85.3 TPM
Cólon transverso
81.0 TPM
Cólon sigmoide
78.9 TPM
Linfócitos
75.5 TPM
OUTRAS DOENÇAS (8)
Carney-Stratakis syndromepheochromocytoma/paraganglioma syndrome 1mitochondrial complex 2 deficiency, nuclear type 3sporadic pheochromocytoma/secreting paraganglioma
HGNC:10683UniProt:O14521
SDHCSuccinate dehydrogenase cytochrome b560 subunit, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:9533030). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity)

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (3)
Maturation of TCA enzymes and regulation of TCA cycleCitric acid cycle (TCA cycle)Respiratory electron transport
MECANISMO DE DOENÇA

Pheochromocytoma/paraganglioma syndrome 3

A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL3 inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
21.2 TPM
Glândula adrenal
19.6 TPM
Músculo esquelético
18.4 TPM
Cérebro - Hemisfério cerebelar
16.9 TPM
Linfócitos
16.5 TPM
OUTRAS DOENÇAS (6)
gastrointestinal stromal tumorCarney-Stratakis syndromepheochromocytoma/paraganglioma syndrome 3hereditary pheochromocytoma-paraganglioma
HGNC:10682UniProt:Q99643
PIK3CAPhosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformDisease-causing germline mutation(s) (gain of function) inAltamente restrito
FUNÇÃO

Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1,

LOCALIZAÇÃO

VIAS BIOLÓGICAS (10)
Signaling by LTK in cancerNephrin family interactionsIRS-mediated signallingTie2 SignalingDAP12 signaling
EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
23.2 TPM
Linfócitos
22.4 TPM
Nervo tibial
21.4 TPM
Tecido adiposo
20.5 TPM
Fibroblastos
20.5 TPM
OUTRAS DOENÇAS (28)
seborrheic keratosismegalodactylyovarian cancerhepatocellular carcinoma
HGNC:8975UniProt:P42336
SDHBSuccinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:26925370, PubMed:27604842). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity)

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (1)
Maturation of TCA enzymes and regulation of TCA cycle
MECANISMO DE DOENÇA

Pheochromocytoma/paraganglioma syndrome 4

A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL4 inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
177.6 TPM
Coração - Ventrículo esquerdo
168.2 TPM
Linfócitos
144.5 TPM
Fígado
124.9 TPM
Coração - Átrio
122.8 TPM
OUTRAS DOENÇAS (9)
Carney-Stratakis syndromepheochromocytoma/paraganglioma syndrome 4gastrointestinal stromal tumormitochondrial complex 2 deficiency, nuclear type 4
HGNC:10681UniProt:P21912
SEC23BProtein transport protein Sec23BDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex

LOCALIZAÇÃO

Cytoplasmic vesicle, COPII-coated vesicle membraneEndoplasmic reticulum membraneCytoplasm, cytosol

MECANISMO DE DOENÇA

Cowden syndrome 7

A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
79.2 TPM
Pituitária
53.5 TPM
Testículo
43.3 TPM
Glândula adrenal
42.8 TPM
Glândula salivar
37.9 TPM
OUTRAS DOENÇAS (3)
congenital dyserythropoietic anemia type 2Cowden syndrome 7Cowden disease
HGNC:10702UniProt:Q15437
PTENPhosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENDisease-causing germline mutation(s) (loss of function) inRestrito
FUNÇÃO

Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring of PtdIns(3,4,5)P3/phosphatidylinositol 3,4,5-trisphosphate, PtdIns(3,4)P2/phosphatidylinositol 3,4-diphosphate and PtdIns3P/phosphatidylinositol 3-phosphate with a preference for PtdIns(3,4,5)P3 (PubMed:16824732, PubMed:26504226, PubM

LOCALIZAÇÃO

CytoplasmNucleusNucleus, PML bodyCell projection, dendritic spinePostsynaptic densitySecreted

VIAS BIOLÓGICAS (10)
Synthesis of PIPs at the plasma membraneDownstream TCR signalingNegative regulation of the PI3K/AKT networkTP53 Regulates Metabolic GenesSynthesis of IP3 and IP4 in the cytosol
MECANISMO DE DOENÇA

Cowden syndrome 1

An autosomal dominant hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
62.5 TPM
Cervix Ectocervix
62.4 TPM
Cervix Endocervix
59.7 TPM
Fallopian Tube
51.0 TPM
Cérebro - Hemisfério cerebelar
49.1 TPM
OUTRAS DOENÇAS (19)
Cowden syndrome 1prostate cancer, hereditaryPTEN hamartoma tumor syndromemacrocephaly-autism syndrome
HGNC:9588UniProt:P60484

Variantes genéticas (ClinVar)

287 variantes patogênicas registradas no ClinVar.

🧬 USF3: NM_001009899.4(USF3):c.*977C>G ()
🧬 USF3: GRCh37/hg19 3q13.2-13.31(chr3:112144082-115514432)x1 ()
🧬 USF3: GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 ()
🧬 USF3: GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1 ()
🧬 USF3: NC_000003.11:g.(?_113010404)_(114099634_?)del ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 3,464 variantes classificadas pelo ClinVar.

173
1732
1559
Patogênica (5.0%)
VUS (50.0%)
Benigna (45.0%)
VARIANTES MAIS SIGNIFICATIVAS
PTEN: NM_000314.8(PTEN):c.165-7_175del [Likely pathogenic]
SEC23B: NM_006363.6(SEC23B):c.35A>T (p.Glu12Val) [Uncertain significance]
SEC23B: NM_006363.6(SEC23B):c.1421C>G (p.Pro474Arg) [Uncertain significance]
LOC126861339: NM_003002.4(SDHD):c.37_38delinsAG (p.Ala13Ser) [Uncertain significance]
SEC23B: NM_006363.6(SEC23B):c.319C>A (p.Pro107Thr) [Uncertain significance]

Vias biológicas (Reactome)

69 vias biológicas associadas aos genes desta condição.

Activation of BAD and translocation to mitochondria PIP3 activates AKT signaling Downregulation of ERBB2:ERBB3 signaling Translocation of SLC2A4 (GLUT4) to the plasma membrane Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation MTOR signalling AKT phosphorylates targets in the cytosol AKT phosphorylates targets in the nucleus Negative regulation of the PI3K/AKT network eNOS activation AKT-mediated inactivation of FOXO1A Integrin signaling Deactivation of the beta-catenin transactivating complex CD28 dependent PI3K/Akt signaling Co-inhibition by CTLA4 G beta:gamma signalling through PI3Kgamma Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA KSRP (KHSRP) binds and destabilizes mRNA VEGFR2 mediated vascular permeability TP53 Regulates Metabolic Genes Constitutive Signaling by AKT1 E17K in Cancer Interleukin-4 and Interleukin-13 signaling Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Cyclin E associated events during G1/S transition Cyclin A:Cdk2-associated events at S phase entry PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 RAB GEFs exchange GTP for GDP on RABs Respiratory electron transport Citric acid cycle (TCA cycle) Maturation of TCA enzymes and regulation of TCA cycle PI3K Cascade IRS-mediated signalling GPVI-mediated activation cascade Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants PI3K events in ERBB4 signaling Signaling by SCF-KIT Synthesis of PIPs at the plasma membrane GAB1 signalosome Signaling by cytosolic FGFR1 fusion mutants Downstream signal transduction PI3K events in ERBB2 signaling PI3K/AKT activation Signaling by ALK Downstream TCR signaling Role of phospholipids in phagocytosis Tie2 Signaling Constitutive Signaling by Aberrant PI3K in Cancer DAP12 signaling Role of LAT2/NTAL/LAB on calcium mobilization Nephrin family interactions G alpha (q) signalling events VEGFA-VEGFR2 Pathway Interleukin-3, Interleukin-5 and GM-CSF signaling Constitutive Signaling by EGFRvIII PI-3K cascade:FGFR1 PI-3K cascade:FGFR2 PI-3K cascade:FGFR3 PI-3K cascade:FGFR4 Synthesis of IP3 and IP4 in the cytosol PTEN Loss of Function in Cancer Ub-specific processing proteases Ovarian tumor domain proteases Regulation of PTEN mRNA translation Regulation of PTEN localization Regulation of PTEN stability and activity Transcriptional Regulation by MECP2

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Cowden

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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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Outros ensaios clínicos

15 ensaios clínicos encontrados, 3 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥈Melhor nível de evidência: Observacional
Timeline de publicações
492 papers (10 anos)
#1

Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2026 Mar 09

PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant syndrome caused by a mutation in the PTEN gene. Previous studies have suggested an association between PHTS and epilepsy, but the clinical characteristics of epilepsy in PHTS remain unknown. This study aims to expand knowledge of epilepsy in PHTS and provide insights into its clinical features. A retrospective observational study was conducted at the Radboud University Medical Center, including 149 patients with clinically or genetically confirmed PHTS. Electronic patient records were reviewed for baseline characteristics, epileptic features, therapeutic interventions, and neuroimaging results. A cumulative risk analysis for developing epilepsy was performed. The prevalence of epilepsy among PHTS patients in this cohort was found to be 6%, with an estimated PHTS prevalence of 1:20 000 in the Netherlands. Autism spectrum disorder (ASD) was significantly associated with an increased risk of developing epilepsy (p = 0.002). A range of seizure semiologies was observed, with focal epilepsy being the most common, presenting as focal seizures with impaired awareness. EEG results predominantly showed (multi)focal discharges with variable localization. MRI abnormalities did not correlate with epileptic foci on EEG. This study highlights the clinical characteristics of epilepsy in pediatric patients with PHTS. Follow-up should include monitoring for characteristics of focal epilepsy, with EEG utilized selectively when such episodes are observed, rather than as a routine screening measure. Treatment strategies should be individualized based on the patient's characteristics. In cases of epilepsy, MRI is recommended to identify potential structural malformations amenable to surgical intervention.

#2

Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.

International journal of molecular sciences2026 Jan 28

Endometrial cancer is the most common gynaecologic malignancy in high-income countries, with a rising incidence largely driven by reproductive factors, obesity, and prolonged exposure to unopposed oestrogens. Although most cases are sporadic, approximately 2-5% are associated with hereditary cancer syndromes, of which Lynch syndrome represents the most important contributor. Lynch syndrome results from germline mutations in DNA mismatch repair (MMR) genes and is associated with a substantially increased lifetime risk of endometrial cancer, reaching up to 71% in carriers of MutS homologue 6 (MSH6) mutations. Hereditary cancer predisposition typically follows an autosomal dominant inheritance pattern and may be suspected based on clinical warning signs such as early disease onset, multiple primary malignancies, a strong family history, or the presence of microsatellite instability in tumour tissue. In addition to Lynch syndrome, rarer genetic conditions-including Cowden syndrome (PTEN), Li-Fraumeni syndrome (TP53), polymerase proofreading-associated polyposis (POLE/POLD1), and hereditary breast and ovarian cancer syndromes (BRCA1/2)-also contribute to hereditary endometrial cancer risk. Recognition of these genetic backgrounds is essential for accurate diagnosis, personalised surveillance, and the implementation of targeted preventive and therapeutic strategies. Despite major advances in molecular diagnostics, hereditary endometrial cancer remains frequently underdiagnosed, leading to missed opportunities for cancer prevention among affected individuals and their families. This comprehensive review summarises current evidence on hereditary predispositions to endometrial cancer, with a particular emphasis on Lynch syndrome, and discusses underlying genetic mechanisms, inheritance patterns, diagnostic strategies, and clinical implications for screening, genetic counselling, and treatment optimisation.

#3

Dysplastic cerebellar gangliocytoma: a six-decade study.

Journal of neurosurgical sciences2026 Feb

Dysplastic cerebellar gangliocytoma (DCG) is a rare cerebellar tumor glioneuronal and neuronal tumor with phosphatase and tensin homolog (PTEN) identified as a key altered gene. The aim of this study is to establish DCG diagnostic and outcome trends over a six-decade and present cases from our institution. A literature review of online databases was performed using relevant terms (January 1970-October 2024). Our institution pathology database was queried for patients with DCG (2000-2024). Data was extracted and dichotomized in adult and pediatric cases. We report three new DCG cases in addition to the 170 DCG cases reported across 97 articles over seven decades, with 52% of articles published since 2010. DCG predominantly occurred in adults (>18 years, 82%), women (59%), at mean age 9.0±6.3 years and 38.1±13.7 years in pediatric and adult patients, respectively. Balance/coordination deficit, headache and visual deficit were the most common presenting symptoms. MRI "tiger-stripe" pattern was present in 67%. Surgical resection was the treatment of choice for >97% of patients. Association with Cowden Syndrome (CS) was confirmed in 67% of patients. PTEN mutations identified in 48.3% of cases, primarily affecting chromosome 10 (10q23.3). Progression-free survival was experienced by 74% of patients and reoperation for progression needed in 3.5% of cases. DCG is a rare tumor associated with PTEN mutations. MRI aids in diagnosis and surgery ensures favorable outcomes. Standardized genetic screening and targeted therapies require further study, as they hold promise for refining diagnosis and long-term management.

#4

Cerebellopontine angle SHH-activated embryonal tumor without interaction from the cerebellum in a patient with Cowden syndrome: A case report.

Journal of neuropathology and experimental neurology2026 Feb 01
#5

A Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometrial Cancer in Women With Cowden Syndrome: A Case Report.

Reproductive medicine and biology2026

Cowden syndrome is an autosomal-dominantly inherited rare condition caused by germline pathogenic variants of the PTEN gene. Multiple tumor development at a younger age in this syndrome may warrant different modalities of fertility preservation. Here we report that women with this syndrome gave successful live birth with frozen-thaw embryo transfer that was cryopreserved before the start of chemotherapy for breast cancer. This woman also suffered from endometrial cancer that developed during hormonal treatment with GnRH agonist and tamoxifen for breast cancer. The lesion was well controlled with oral MPA therapy and hysteroscopic resection. She could receive fertility preservation for breast cancer and endometrial cancer before fertility treatment and pregnancy. This is the first report of live births after multiple fertility preservation therapy for metachronous breast and uterine cancer in Cowden syndrome. Appropriate genetic counseling may help the patient's decision making. The treatment plan should be discussed with diverse professionals such as oncologists, reproductive physicians, perinatologists, geneticists, and genetic counselors.

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📚 EuropePMC427 artigos no totalmostrando 197

2026

Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2026

A Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometrial Cancer in Women With Cowden Syndrome: A Case Report.

Reproductive medicine and biology
2026

Case of a genodermatosis presenting with verrucous lesions mimicking treatment-refractory warts.

JAAD case reports
2026

Cowden Syndrome: Imaging Review and Cancer Surveillance.

Radiographics : a review publication of the Radiological Society of North America, Inc
2026

Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.

International journal of molecular sciences
2026

A rare co-presentation of bicuspid aortic valve aortopathy and PTEN mutation: hypothesis-generating, not practice-changing.

Indian journal of thoracic and cardiovascular surgery
2026

Cowden syndrome presenting with ascending aortic aneurysm: echocardiogram and computed tomography angiography findings.

Indian journal of thoracic and cardiovascular surgery
2026

Life-Threatening Hemoptysis Due to Arteriovenous Venous Malformation in Cowden Syndrome.

Pediatric pulmonology
2026

Cowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder-A Case Report.

Reports (MDPI)
2026

Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.

Virchows Archiv : an international journal of pathology
2026

Oral squamous cell carcinoma risk and magnitude of association in inherited cancer predisposition syndromes: evidence from a large real-world cohort.

Oral surgery, oral medicine, oral pathology and oral radiology
2025

Genetic and immunohistochemical studies identify recurrent ACTB mutations and PTEN alterations in tubular adenomas of the breast.

Histopathology
2025

[Clinical characterization and genetic analysis of two Chinese patients with Cowden syndrome due to variants of PTEN gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Non-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.

Reports (MDPI)
2026

Intraoral Sclerotic Fibroma: A Detailed Immunohistochemical Study Highlighting Expression of Histiocytic Markers.

Journal of cutaneous pathology
2025

Cowden Syndrome With a Co-existing Lynch Syndrome Risk Mutation.

Cureus
2025

Peribronchial Arteriovenous Malformation with Cowden Syndrome: A Rare Case Report.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
2026

Gynecologic Manifestations of Hereditary Syndromes: Clinical and Imaging Spectrum.

Radiographics : a review publication of the Radiological Society of North America, Inc
2025

Cobblestone appearance of oral mucosa: A diagnostic conundrum.

SAGE open medical case reports
2025

Case Report: A case series of Lhermitte-Duclos disease with surgical intervention.

Frontiers in oncology
2025

The Value of Punching It Out: Patient With Cowden Syndrome and MALT Lymphoma of the Lung.

Case reports in oncological medicine
2025

Ovarian vascular malformation - clinical presentation of Cowden syndrome.

Ceska gynekologie
2026

Dysplastic cerebellar gangliocytoma: a six-decade study.

Journal of neurosurgical sciences
2025

Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.

Frontiers in oncology
2026

Dermatology-related disorders named after patients.

Clinics in dermatology
2025

Multi-modal Malignancies in Cowden Syndrome: Diagnostic Challenges in a Suspected Case From a Low-Resource Setting.

Cureus
2026

Conventional and alternative approaches for targeting PIK3CA and PTEN alterations in head and neck, breast, and other cancers.

Advances in biological regulation
2025

Ophthalmological manifestations in a cohort of Cowden syndrome patients in a large tertiary healthcare system.

Eye (London, England)
2025

Dysplastic gangliocytoma of the cerebellum with an unusual radiological finding.

Ceskoslovenska patologie
2025

Heterozygous Mutations of PTEN in Macrocephaly Patient With Epilepsy: A Case Report.

Case reports in medicine
2025

Molecular and genetic evidence for the role of AMBRA1 in suppressing S-phase entry and tumorigenesis.

iScience
2025

protPheMut: An Interpretable Machine Learning Tool for Classification of Cancer and Neurodevelopmental Disorders in Human Missense Mutations.

Journal of chemical information and modeling
2025

Familial Thyroid Cancers Syndromes.

Endocrinology and metabolism clinics of North America
2025

PTEN Hamartoma Tumor Syndrome/Cowden Syndrome With Diffuse Sebaceous Gland Hyperplasia: Description of an Atypical Phenotype and a Previously Undescribed Pathogenic Variant.

The Journal of dermatology
2026

Cerebellopontine angle SHH-activated embryonal tumor without interaction from the cerebellum in a patient with Cowden syndrome: A case report.

Journal of neuropathology and experimental neurology
2026

Adolescent With Penile Lesions.

Pediatric dermatology
2025

Utility, Performance and Safety of Single Balloon Enteroscopy in Patients with Hereditary Polyposis Syndromes.

Journal of gastrointestinal and liver diseases : JGLD
2025

Atypical Manifestations of Cowden Syndrome in Pediatric Patients.

Diagnostics (Basel, Switzerland)
2025

Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.

PloS one
2025

Hypertrophic Tongue Papillae in Cowden Syndrome/PTEN Hamartoma Tumor Syndrome.

JAMA dermatology
2025

Sirolimus for Colon Polyposis in PTEN Hamartoma Tumor Syndrome.

Clinical and translational gastroenterology
2025

Two illustrative cases of adult Lhermitte-Duclos disease and a systematic review of literature related to surgical management.

Brain &amp; spine
2025

Metastatic Breast Cancer to a Dedifferentiated Solitary Fibrous Tumor Arising from a PTEN Hamartoma of Soft Tissue.

International journal of surgical pathology
2025

A De Novo PTEN Pathogenic Variant in a Young Girl with Sporadic Cowden Syndrome-A Case Report.

Pediatric reports
2025

Editor's Note to: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.

Human molecular genetics
2025

Screening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes.

Virchows Archiv : an international journal of pathology
2025

In vivo and in vitro analysis of functional effects of the SDHD H50R variant.

Endocrine-related cancer
2025

Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.

Human molecular genetics
2025

Atypical thyroid manifestation in Cowden disease: a case report and literature review.

Frontiers in pediatrics
2025

Neural or Neural-Related Colorectal Lesion Incidence Varies by Site, and Multifocal Cases Are Often Syndromic: Insights From a Series of 593 Patients.

Archives of pathology &amp; laboratory medicine
2025

Early-Onset Colorectal Cancer: When to Include Cowden Syndrome in Your Differential Diagnosis.

ACG case reports journal
2024

Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling.

Balkan journal of medical genetics : BJMG
2025

A diagnostic challenge: A rare case of PTEN hamartoma of soft tissue of the mental region.

International journal of surgery case reports
2025

[Prophylactic hysterectomy (Lynch syndrome, BRCA and others)].

Bulletin du cancer
2025

Pancreatic Mixed Acinar-neuroendocrine Carcinoma in a Patient With a Germline PTEN Variant: A Case Report and Genomic Literature Review.

In vivo (Athens, Greece)
2025

Breast Cancer with a Newly Diagnosed Variant in the PTEN Gene: A Case Report.

Surgical case reports
2025

Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.

Journal of Korean Neurosurgical Society
2025

Retracted: Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.

The American journal of case reports
2025

FROM ONCOLOGIST TO SURGEON - GENETICS IN COLORECTAL METASTASIS FOR SURGEONS.

Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery
2025

A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome.

Clinics and practice
2025

Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.

The American journal of case reports
2024

Dysplastic ganglion cell tumor of the right cerebellum: A case report and literature review.

Medicine
2025

Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.

Pathology
2025

Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.

Pathology
2024

[Thyroid cancer in a child with Cowden syndrome].

Problemy endokrinologii
2024

Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Journal of medical genetics
2024

Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?

Genes
2024

Testicular Lipomatosis Incidentally Detected by F-18 FDG PET/CT in a Cowden Syndrome Patient.

Nuclear medicine and molecular imaging
2024

Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity.

Cureus
2024

Severe lupus nephritis in a young adult with PTEN hamartoma tumour syndrome.

BMJ case reports
2024

Cowden Syndrome: A Rare Cause of Intestinal Polyposis.

Cureus
2024

Minimally Invasive Plasma Device Management of Multiple Benign Skin Cancers Associated with Rare Genodermatoses-Case Series and Review of the Therapeutic Methods.

Journal of clinical medicine
2024

A New Variant of the PTEN Gene in Relation to Cowden Syndrome Type 1.

Indian journal of dermatology
2025

Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome.

Journal of clinical research in pediatric endocrinology
2025

Spinal Dural Arteriovenous Fistulas in a Patient with Cowden Syndrome and a Phosphatase and Tensin Homolog Mutation.

Internal medicine (Tokyo, Japan)
2024

Treatment and Diagnostic Approach for Lhermitte-Duclos Disease and Suspected Cowden Syndrome.

Cureus
2024

Lhermitte-Duclos Disease in an Eight-Year-Old Boy: A Case Report.

Cureus
2024

Analysis of the loss of phosphatase and tensin homolog expression in thyroid tissue for the diagnosis of Cowden syndrome.

Surgery
2024

[Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study.

International journal of cancer
2024

[Cowden syndrome in a male patient with metachronous triple cancers and various clinical features:a case report].

Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology
2024

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.

Clinics and practice
2024

Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review.

Medicina (Kaunas, Lithuania)
2024

Cowden Syndrome-Oral Finding.

Mayo Clinic proceedings
2024

Pediatric Challenges With Cowden Syndrome and Graves' Disease: A Case Report.

Cureus
2024

Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome.

International dental journal
2024

Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs.

Frontiers in neurology
2024

Knowledge Mapping of Cowden Syndrome: a Bibliometric Analysis.

The Chinese journal of dental research
2024

Clinical description of two cases of Cowden syndrome and the implication regarding thyroid cancer.

Endocrinology, diabetes &amp; metabolism case reports
2024

Cerebellar phenotypes in germline PTEN mutation carriers.

Neuropathology and applied neurobiology
2024

Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.

Clinical genetics
2024

PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Case report: Rare oral manifestations in Cowden syndrome with PTEN mutation.

Frontiers in oncology
2024

Multiple bronchial carcinoids associated with Cowden syndrome.

Endocrine
2024

Giant cell collagenomas associated with Cowden syndrome: A case report.

Journal of cutaneous pathology
2024

[Analysis of clinical features and genetic variant in a child with Cowden syndrome 1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome.

Cell reports. Medicine
2024

Counselling and management of women with genetic predisposition to gynaecological cancers.

European journal of obstetrics, gynecology, and reproductive biology
2024

Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome.

American journal of clinical pathology
2024

Giant cell collagenoma in a patient with Cowden syndrome: A rare case report and literature review with a focus on the spectrum of sclerotic fibroma and giant cell collagenoma.

Journal of cutaneous pathology
2024

Lhermitte-Duclos Disease: A Rare Entity With Typical Histology but Ambiguous Histogenesis.

International journal of surgical pathology
2023

Meningioma getting a common presentation in uncommon Cowden syndrome: A case report.

Journal of neurosciences in rural practice
2023

Early is Better: Report of a Cowden Syndrome.

Global medical genetics
2024

Kidney cancer: Links between hereditary syndromes and sporadic tumorigenesis.

Seminars in diagnostic pathology
2024

Familial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series.

Laboratory medicine
2024

Colorectal Ganglioneuromas Associated with Cowden Syndrome.

Internal medicine (Tokyo, Japan)
2024

A rare case of oral squamous cell carcinoma in a patient with Cowden syndrome: Association or coincidence?

Oral oncology
2023

Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication.

Journal of the anus, rectum and colon
2024

Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.

The American journal of surgical pathology
2023

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome-Case Report and Brief Review of the Literature.

Genes
2023

Morphea after Silicone Implants.

Acta dermatovenerologica Croatica : ADC
2024

Identification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN as the causative factor for Cowden syndrome: a medical case study.

Clinical and experimental dermatology
2023

Lhermitte-Duclos disease: A systematic review.

Surgical neurology international
2023

Anesthetic Management for a Patient with Rosai-Dorfman Disease, Cowden Syndrome, and Lhermitte-Duclos Disease: An Extremely Rare Disease Combination.

Cureus
2023

Lhermitte-Duclos Disease: A Case Series.

Cureus
2023

Orofacial Manifestations in a Middle-Aged Woman with Cowden Syndrome: A Case Image.

Head and neck pathology
2023

A young female of Cowden syndrome presenting with Lhermitte-Duclos disease: An illustrative case.

Surgical neurology international
2024

CONGENITAL RETINAL MACROVESSEL AND CAVERNOUS HEMANGIOMA IN COWDEN SYNDROME: A CASE REPORT AND REVIEW OF LITERATURE.

Retinal cases &amp; brief reports
2025

Gorlin Syndrome and Cowden Syndrome.

The Keio journal of medicine
2023

Brain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.

Advances in experimental medicine and biology
2023

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.

BMC medical genomics
2023

Cowden Syndrome With Gall Bladder Polyps and Incidental Gall Bladder Carcinoma.

Cureus
2023

Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome : Clinicopathologic Study of 12 Renal Cell Carcinomas From 9 Patients and Association With Intrarenal "Lipomas".

The American journal of surgical pathology
2023

Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome.

European journal of medical genetics
2023

Association between Cowden syndrome and Lhermitte-Duclos disease: A case report of an uncommon Genetic Hamartomatous Disorder.

Radiology case reports
2023

Squamous Papilloma on the Hard Palate: A Rare Clinical Entity.

Cureus
2022

Esophageal Manifestations of Dermatological Diseases, Diagnosis and Management.

Current treatment options in gastroenterology
2023

Cowden Syndrome Complicated with Thyroid Lesion: A Pediatric Case Report.

Turkish archives of pediatrics
2023

Thyroid Nodules and Follicular Cell-Derived Thyroid Carcinomas in Children.

Endocrine pathology
2023

A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations.

Annals of dermatology
2023

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.

Diagnostic pathology
2023

Refractory Choroidal Neovascularization in a Patient With Pseudoxanthoma Elasticum and Cowden Syndrome.

Journal of vitreoretinal diseases
2023

Thyroid pathology, a clue to PTEN hamartoma tumor syndrome.

Journal of pathology and translational medicine
2023

Synchronous and metachronous thyroid cancer, breast cancer, and melanoma in a premenopausal patient with Cowden syndrome.

Radiology case reports
2023

Hamartomatous polyps: Diagnosis, surveillance, and management.

World journal of gastroenterology
2023

Lhermitte-Duclos disease: A series of six cases.

Journal of neurosciences in rural practice
2023

Rare Isolated Duodenal Hamartomatous Polyp in an Elderly Patient.

The American journal of case reports
2023

Solitary Sclerotic Fibroma of Right Cerebellopontine Angle.

World neurosurgery
2023

Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?

International journal of molecular sciences
2023

A Patient with Transverse Colon Cancer Complicated by Cowden Syndrome Administered FOLFOXIRI + Bevacizumab Therapy.

Case reports in gastroenterology
2022

GIANT MULTINODULAR GOITER IN COWDEN SYNDROME.

Acta endocrinologica (Bucharest, Romania : 2005)
2022

Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.

Biomedicines
2023

Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.

JCO precision oncology
2023

Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation.

Medicine
2023

Lhermitte-Duclos Disease Related With Cowden Syndrome Mimicking Metastatic Lung Cancer on FDG PET/CT.

Clinical nuclear medicine
2022

Strong Hereditary Predispositions to Colorectal Cancer.

Genes
2022

Jejunal venous malformations in Cowden syndrome: a case report.

Journal of gastrointestinal and liver diseases : JGLD
2023

Hereditary breast cancer: syndromes, tumour pathology and molecular testing.

Histopathology
2023

Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis.

American journal of medical genetics. Part A
2022

New Insights into Melanoma Tumor Syndromes.

JID innovations : skin science from molecules to population health
2022

Cowden Syndrome Case Report: Use of an Ultrasonic Surgical Aspirator for Cosmetic Removal of Lip Hamartomas.

Cureus
2022

Pure lumbar foraminal cavernous malformation in a patient with Cowden syndrome-a case report.

Journal of spine surgery (Hong Kong)
2022

AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells.

International journal of molecular sciences
2022

Thyroid and renal cancers: A bidirectional association.

Frontiers in oncology
2023

Epilepsy in Cowden syndrome: beyond Lhermitte-Duclos disease.

Acta neurologica Belgica
2023

Diverse imaging findings of Lhermitte-Duclos disease.

Clinical radiology
2023

Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome.

Pediatric dermatology
2022

A Case Report of a Sclerotic Fibroma of the Oral Mucosa.

Cureus
2021

The surgical resection of dysplastic cerebellar gangliocytoma assisted by intraoperative sonography: illustrative case.

Journal of neurosurgery. Case lessons
2022

Cowden Disease: A Review.

The American Journal of dermatopathology
2022

Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena.

The Turkish journal of pediatrics
2022

A progressive and refractory case of breast cancer with Cowden syndrome.

World journal of surgical oncology
2022

A phase II study of TAS-117 in patients with advanced solid tumors harboring germline PTEN-inactivating mutations.

Future oncology (London, England)
2023

Coexisting lipomatous meningioma and glioblastoma in Cowden syndrome: A unique tumor association.

Neuropathology : official journal of the Japanese Society of Neuropathology
2022

Familial and hereditary gastric cancer, an overview.

Best practice &amp; research. Clinical gastroenterology
2022

Giant ovarian cystadenoma in association with Cowden syndrome.

Endokrynologia Polska
2022

Multiple Storiform Collagenomas in the Tracheobronchial Tree of a Patient With a Cowden Syndrome.

Journal of bronchology &amp; interventional pulmonology
2024

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) in the setting of cowden syndrome: a case report and literature review on COLD syndrome.

British journal of neurosurgery
2022

Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome.

Frontiers in surgery
2022

PTEN and LKB1 are differentially required in Gli1-expressing mesenchymal cells to suppress gastrointestinal polyposis.

Cell reports
2022

[Ovarian Carcinosarcoma Associated with Cowden Syndrome-A Case Report].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2022

Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.

The American Journal of dermatopathology
2022

Fumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer.

The Journal of clinical endocrinology and metabolism
2022

Clinicopathologic features of thyroid nodules with PTEN mutations on preoperative testing.

Endocrine-related cancer
2022

Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.

European journal of medical genetics
2022

Rare malignant adnexal tumour of the skin involving distal phalanx of right thumb with co-existing primary lung cancer in a 72-year-old patient: A case report.

International journal of surgery case reports
2023

Paresthesias and Weakness of Lower Limbs as Symptomatic Debut of Lhermitte-Duclos Disease.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2022

Hereditary Gynecologic Cancer Syndromes - A Narrative Review.

OncoTargets and therapy
2022

Case Report: Acquired collagenoma on the dorsum of the foot.

JPRAS open
2022

Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Head and neck pathology
2022

Cancer genetics and breast cancer.

Best practice &amp; research. Clinical obstetrics &amp; gynaecology
2022

Pancreatic neuroendocrine neoplasms: Updates on genomic changes in inherited tumour syndromes and sporadic tumours based on WHO classification.

Critical reviews in oncology/hematology
2022

Hereditary gynecologic tumors and precision cancer medicine.

The journal of obstetrics and gynaecology research
2022

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet journal of rare diseases
2022

Thyroid Follicular Cell-derived Carcinomas in a Background of Multiple Adenomatous Nodules Leading to a Diagnosis of PTEN Hamartoma Tumor Syndrome in an Adult Patient With a Novel RECQL4 Mutation.

Anticancer research
2022

Rare Hereditary Gynecological Cancer Syndromes.

International journal of molecular sciences
2022

Dysplastic gangliocytoma of the cerebellum in a cat.

Veterinary pathology
2022

Pituitary Carcinoma in a Patient with Cowden Syndrome.

The American journal of case reports
2022

Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.

International journal of clinical oncology
2022

Medulloblastoma and Cowden syndrome: Further evidence of an association.

Free neuropathology
2022

Brain 18F-FDG PET in Cowden Syndrome.

Clinical nuclear medicine
2022

Identification of a Cowden syndrome patient with a novel PTEN mutation and establishment of patient-derived induced pluripotent stem cells.

In vitro cellular &amp; developmental biology. Animal
2022

Immature teratoma of the ovary associated with Cowden syndrome.

Pediatric blood &amp; cancer
2023

Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants.

Journal of medical genetics
2022

Tumor Syndromes: Neurosurgical Evaluation and Management.

Neurosurgery clinics of North America
2022

Gastrointestinal polyposis with associated cutaneous manifestations.

Pathology
2021

Diffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes.

Cureus
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Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41825102mais citado
  2. Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
    International journal of molecular sciences· 2026· PMID 41683729mais citado
  3. Dysplastic cerebellar gangliocytoma: a six-decade study.
    Journal of neurosurgical sciences· 2026· PMID 41148183mais citado
  4. Cerebellopontine angle SHH-activated embryonal tumor without interaction from the cerebellum in a patient with Cowden syndrome: A case report.
    Journal of neuropathology and experimental neurology· 2026· PMID 40644441mais citado
  5. A Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometrial Cancer in Women With Cowden Syndrome: A Case Report.
    Reproductive medicine and biology· 2026· PMID 41799645mais citado
  6. Remarkable response of metaplastic breast cancer to a novel targeted AKT inhibitor TAS-117 in a Cowden syndrome patient: a case report.
    BJC Rep· 2026· PMID 41986640recente
  7. Cowden syndrome gastrointestinal polyposis.
    IGIE· 2026· PMID 41969785recente
  8. An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed.
    Ther Adv Med Oncol· 2026· PMID 41883871recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:201(Orphanet)
  2. MONDO:0016063(MONDO)
  3. GARD:6202(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q1138188(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Cowden
Compêndio · Raras BR

Síndrome Cowden

ORPHA:201 · MONDO:0016063
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
Q85.8 · Outras facomatoses não classificadas em outra parte
CID-11
Ensaios
3 ativos
Início
All ages
Prevalência
0.45 (Netherlands)
MedGen
UMLS
C0018553
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

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