Raras
Buscar doenças, sintomas, genes...
Tumor vascular maligno
ORPHA:673466DOENÇA RARA

Neoplasia maligna que surge dos vasos sanguíneos.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Neoplasia maligna que surge dos vasos sanguíneos.

Pesquisas ativas
1 ensaio
1 total registrados no ClinicalTrials.gov
Publicações científicas
165 artigos
Último publicado: 2026 Jan
Medicamentos
7 registrados
INTERFERON ALFA-2B, DOXORUBICIN HYDROCHLORIDE, ALITRETINOIN

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7 medicamentos registrados
Ver detalhes, fases e interações →
INTERFERON ALFA-2BDOXORUBICIN HYDROCHLORIDEALITRETINOINDAUNORUBICINPACLITAXELVINCRISTINE SULFATEDOXORUBICIN
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
4 sintomas
🧬
Pele e cabelo
4 sintomas
🩸
Sangue
4 sintomas
🧠
Neurológico
3 sintomas
📏
Crescimento
3 sintomas
🫁
Pulmão
2 sintomas

+ 30 sintomas em outras categorias

Características mais comuns

Hipertensão
Adenocarcinoma pulmonar
Dor abdominal
Palpitações
Anormalidade do metabolismo/homeostase
Fraqueza muscular
56sintomas
Sem dados (56)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 56 características clínicas mais associadas, ordenadas por frequência.

HipertensãoHypertension
Adenocarcinoma pulmonarLung adenocarcinoma
Dor abdominalAbdominal pain
PalpitaçõesPalpitations
Anormalidade do metabolismo/homeostaseAbnormality of metabolism/homeostasis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico165PubMed
Últimos 10 anos89publicações
Pico202112 papers
Linha do tempo
2026Hoje · 2026🧪 1990Primeiro ensaio clínico📈 2021Ano 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

10 genes identificados com associação a esta condição.

TP53Cellular tumor antigen p53Candidate gene tested inAltamente restrito
FUNÇÃO

Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apop

LOCALIZAÇÃO

CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome

VIAS BIOLÓGICAS (10)
TP53 Regulates Metabolic GenesRegulation of TP53 ExpressionRegulation of TP53 DegradationOncogene Induced SenescenceOxidative Stress Induced Senescence
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
73.0 TPM
Skin Sun Exposed Lower leg
37.0 TPM
Skin Not Sun Exposed Suprapubic
35.2 TPM
Fibroblastos
32.9 TPM
Ovário
32.4 TPM
OUTRAS DOENÇAS (29)
Li-Fraumeni syndromenasopharyngeal carcinoma, susceptibility to, 1hepatocellular carcinomafamilial pancreatic carcinoma
HGNC:11998UniProt:P04637
PRKAR1AcAMP-dependent protein kinase type I-alpha regulatory subunitCandidate gene tested inAltamente restrito
FUNÇÃO

Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (10)
PKA activationGPER1 signalingCREB1 phosphorylation through the activation of Adenylate CyclaseDARPP-32 eventsHigh laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
MECANISMO DE DOENÇA

Carney complex 1

CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
152.7 TPM
Ovário
151.5 TPM
Aorta
138.6 TPM
Útero
138.3 TPM
Tecido adiposo
129.4 TPM
OUTRAS DOENÇAS (9)
familial atrial myxomapigmented nodular adrenocortical disease, primary, 1Acrodysostosis 1 with or without hormone resistanceCarney complex, type 1
HGNC:9388UniProt:P10644
CDKN2ACyclin-dependent kinase inhibitor 2ACandidate gene tested inRestrito
FUNÇÃO

Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (8)
Regulation of TP53 DegradationOncogene Induced SenescenceOxidative Stress Induced SenescenceStabilization of p53Regulation of RUNX3 expression and activity
OUTRAS DOENÇAS (10)
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)familial melanomaLi-Fraumeni syndromefamilial atypical multiple mole melanoma syndrome
HGNC:1787UniProt:P42771
ZNRF3E3 ubiquitin-protein ligase ZNRF3Candidate gene tested inAltamente restrito
FUNÇÃO

E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby restricting the size of the intestinal stem cell zone (PubMed:22575959). Along with RSPO2 and RNF43, constitutes a master s

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Regulation of FZD by ubiquitination
EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
15.1 TPM
Cerebelo
15.1 TPM
Aorta
13.1 TPM
Artéria tibial
12.4 TPM
Córtex cerebral
11.3 TPM
OUTRAS DOENÇAS (1)
adrenal cortex carcinoma
HGNC:18126UniProt:Q9ULT6
WWTR1WW domain-containing transcription regulator protein 1Candidate gene tested inAltamente restrito
FUNÇÃO

Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:11118213, PubMed:18227151, PubMed:23911299). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, whi

LOCALIZAÇÃO

NucleusCytoplasmCell membraneCell junction, tight junction

VIAS BIOLÓGICAS (9)
Downregulation of SMAD2/3:SMAD4 transcriptional activitySMAD2/SMAD3:SMAD4 heterotrimer regulates transcriptionSignaling by HippoYAP1- and WWTR1 (TAZ)-stimulated gene expressionPhysiological factors
EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Muscular
94.0 TPM
Cólon sigmoide
84.1 TPM
Aorta
80.7 TPM
Esôfago - Junção
79.8 TPM
Artéria tibial
77.7 TPM
OUTRAS DOENÇAS (2)
pseudomyogenic hemangioendotheliomaepithelioid hemangioendothelioma
HGNC:24042UniProt:Q9GZV5
YAP1Transcriptional coactivator YAP1Candidate gene tested inAltamente restrito
FUNÇÃO

Transcriptional regulator with dual roles as a coactivator and corepressor. Critical downstream regulatory target in the Hippo signaling pathway, crucial for organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637, PubMed:30447097). The Hippo signaling pathway core involves a kinase cascade featuring STK3/MST2 and STK4/MST1, along with its regulatory partner SAV1, which phosphorylates and ac

LOCALIZAÇÃO

CytoplasmNucleusCell junction, tight junctionCell membrane

VIAS BIOLÓGICAS (4)
Nuclear signaling by ERBB4Signaling by HippoRUNX2 regulates osteoblast differentiationTurbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells
MECANISMO DE DOENÇA

Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development

An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest intellectual disability of varying degree and/or sensorineural, mid-frequency hearing loss.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
189.7 TPM
Artéria tibial
180.3 TPM
Útero
134.4 TPM
Artéria coronária
122.3 TPM
Cervix Ectocervix
119.0 TPM
OUTRAS DOENÇAS (2)
uveal coloboma-cleft lip and palate-intellectual disabilityepithelioid hemangioendothelioma
HGNC:16262UniProt:P46937
CAMTA1Calmodulin-binding transcription activator 1Candidate gene tested inAltamente restrito
FUNÇÃO

Transcriptional activator

LOCALIZAÇÃO

NucleusCytoplasm

MECANISMO DE DOENÇA

Cerebellar dysfunction with variable cognitive and behavioral abnormalities

An autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.

INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (2)
cerebellar dysfunction with variable cognitive and behavioral abnormalitiesepithelioid hemangioendothelioma
HGNC:18806UniProt:Q9Y6Y1
TFE3Transcription factor E3Candidate gene tested inAltamente restrito
FUNÇÃO

Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:24448649, PubMed:29146937, PubMed:30733432, PubMed:31672913, PubMed:37079666). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (PubMed:24448649). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the pr

LOCALIZAÇÃO

Cytoplasm, cytosolNucleusLysosome membrane

VIAS BIOLÓGICAS (1)
Transcriptional and post-translational regulation of MITF-M expression and activity
MECANISMO DE DOENÇA

Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies

A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females.

EXPRESSÃO TECIDUAL(Ubíquo)
Fallopian Tube
116.0 TPM
Útero
109.4 TPM
Nervo tibial
107.4 TPM
Cervix Ectocervix
103.1 TPM
Sangue
102.7 TPM
OUTRAS DOENÇAS (5)
intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse faciesrenal cell carcinoma, Xp11-associatedalveolar soft part sarcomaMIT family translocation renal cell carcinoma
HGNC:11752UniProt:P19532
TERTTelomerase reverse transcriptaseCandidate gene tested inRestrito
FUNÇÃO

Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-de

LOCALIZAÇÃO

Nucleus, nucleolusNucleus, nucleoplasmNucleusChromosome, telomereCytoplasmNucleus, PML body

VIAS BIOLÓGICAS (3)
Telomere Extension By TelomeraseFormation of the beta-catenin:TCF transactivating complexRegulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
2.7 TPM
Intestino delgado
0.7 TPM
Brain Caudate basal ganglia
0.6 TPM
Cólon transverso
0.5 TPM
Brain Nucleus accumbens basal ganglia
0.5 TPM
OUTRAS DOENÇAS (13)
dyskeratosis congenita, autosomal dominant 2pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1adrenal cortex carcinomaclear cell sarcoma of kidney
HGNC:11730UniProt:O14746
CTNNB1Catenin beta-1Candidate gene tested inAltamente restrito
FUNÇÃO

Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:189574

LOCALIZAÇÃO

CytoplasmNucleusCytoplasm, cytoskeletonCell junction, adherens junctionCell junctionCell membraneCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindle poleSynapseCytoplasm, cytoskeleton, cilium basal body

VIAS BIOLÓGICAS (10)
Formation of the nephric ductSpecification of the neural plate borderSynthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)TCF dependent signaling in response to WNTTranscriptional Regulation by VENTX
MECANISMO DE DOENÇA

Colorectal cancer

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Endocervix
297.5 TPM
Cervix Ectocervix
257.8 TPM
Artéria tibial
233.5 TPM
Ovário
201.9 TPM
Cérebro - Hemisfério cerebelar
201.3 TPM
OUTRAS DOENÇAS (17)
hepatocellular carcinomasevere intellectual disability-progressive spastic diplegia syndromeovarian cancerpilomatrixoma
HGNC:2514UniProt:P35222

Medicamentos e terapias

INTERFERON ALFA-2BPhase 4

Mecanismo: Interferon alpha/beta receptor agonist

DOXORUBICIN HYDROCHLORIDEPhase 4

Mecanismo: DNA topoisomerase II alpha inhibitor

ALITRETINOINPhase 4

Mecanismo: Retinoid receptor agonist

DAUNORUBICINPhase 3

Mecanismo: DNA topoisomerase II alpha inhibitor

PACLITAXELPhase 3

Mecanismo: Tubulin inhibitor

VINCRISTINE SULFATEPhase 3

Mecanismo: Tubulin inhibitor

DOXORUBICINPhase 3

Mecanismo: DNA topoisomerase II alpha inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

2,460 variantes patogênicas registradas no ClinVar.

🧬 TP53: NM_000546.6(TP53):c.377del (p.Tyr126fs) ()
🧬 TP53: NM_000546.6(TP53):c.494dup (p.Ser166fs) ()
🧬 TP53: NM_000546.6(TP53):c.184_187dup (p.Ala63fs) ()
🧬 TP53: NM_000546.6(TP53):c.549dup (p.Asp184fs) ()
🧬 TP53: NM_000546.6(TP53):c.43del (p.Ser15fs) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

101 vias biológicas associadas aos genes desta condição.

Activation of NOXA and translocation to mitochondria Activation of PUMA and translocation to mitochondria Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Formation of Senescence-Associated Heterochromatin Foci (SAHF) Oncogene Induced Senescence DNA Damage/Telomere Stress Induced Senescence SUMOylation of transcription factors Autodegradation of the E3 ubiquitin ligase COP1 Association of TriC/CCT with target proteins during biosynthesis Pyroptosis TP53 Regulates Metabolic Genes Ub-specific processing proteases Ovarian tumor domain proteases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Interleukin-4 and Interleukin-13 signaling TP53 Regulates Transcription of DNA Repair Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain TP53 Regulates Transcription of Caspase Activators and Caspases TP53 Regulates Transcription of Death Receptors and Ligands TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest Regulation of TP53 Expression Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Regulation of TP53 Activity through Methylation PKA activation PKA activation in glucagon signalling DARPP-32 events Glucagon-like Peptide-1 (GLP1) regulates insulin secretion Vasopressin regulates renal water homeostasis via Aquaporins CREB1 phosphorylation through the activation of Adenylate Cyclase Hedgehog 'off' state GPER1 signaling ADORA2B mediated anti-inflammatory cytokines production FCGR3A-mediated IL10 synthesis ALK mutants bind TKIs Signaling by ALK fusions and activated point mutants Factors involved in megakaryocyte development and platelet production High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells Senescence-Associated Secretory Phenotype (SASP) Cyclin D associated events in G1 Transcriptional Regulation by VENTX Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Regulation of MITF-M-dependent genes involved in cell cycle and proliferation Regulation of FZD by ubiquitination Signaling by Hippo YAP1- and WWTR1 (TAZ)-stimulated gene expression Downregulation of SMAD2/3:SMAD4 transcriptional activity SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Physiological factors RUNX2 regulates osteoblast differentiation RUNX3 regulates YAP1-mediated transcription EGR2 and SOX10-mediated initiation of Schwann cell myelination Regulation of PD-L1(CD274) transcription Nuclear signaling by ERBB4 RUNX1 regulates transcription of genes involved in differentiation of HSCs Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin Formation of axial mesoderm Zygotic genome activation (ZGA) Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells Developmental Lineage of Pancreatic Ductal Cells Transcriptional and post-translational regulation of MITF-M expression and activity Telomere Extension By Telomerase Formation of the beta-catenin:TCF transactivating complex Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade TCF dependent signaling in response to WNT LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production Apoptotic cleavage of cell adhesion proteins Deactivation of the beta-catenin transactivating complex Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Ca2+ pathway Adherens junctions interactions Binding of TCF/LEF:CTNNB1 to target gene promoters Disassembly of the destruction complex and recruitment of AXIN to the membrane VEGFR2 mediated vascular permeability Myogenesis Signaling by GSK3beta mutants CTNNB1 S33 mutants aren't phosphorylated CTNNB1 S37 mutants aren't phosphorylated CTNNB1 S45 mutants aren't phosphorylated CTNNB1 T41 mutants aren't phosphorylated RHO GTPases activate IQGAPs InlA-mediated entry of Listeria monocytogenes into host cells RUNX3 regulates WNT signaling Cardiogenesis Germ layer formation at gastrulation Regulation of CDH11 function Regulation of CDH19 Expression and Function Regulation of CDH1 Function Degradation of CDH1 Regulation of CDH1 posttranslational processing and trafficking to plasma membrane

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado3
3Fase 34
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 7 medicamentos · 1 ensaio
✓ Aprovados — podem ser usados hoje
INTERFERON ALFA-2BDOXORUBICIN HYDROCHLORIDEALITRETINOIN
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🇧🇷 Atendimento SUS — Tumor vascular maligno

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Publicações mais relevantes

Timeline de publicações
91 papers (10 anos)
#1

Clinical and pathological analysis of pulmonary epithelioid vascular endothelial tumor.

Open life sciences2026 Jan

Pulmonary epithelioid hemangioendothelioma (PEHE) is a rare, low-grade malignant vascular tumor with nonspecific clinical and imaging features. Diagnosis remains challenging, particularly in intraoperative frozen sections and biopsy specimens, and relies on characteristic histopathological morphology and immunohistochemical findings, supplemented by molecular genetic testing when necessary. We report two cases of PEHE: a 72-year-old asymptomatic male with multiple pulmonary nodules detected incidentally on CT, initially diagnosed as "malignant tumor, likely metastatic" by frozen section during wedge resection but later confirmed as PEHE on paraffin pathology; and a 53-year-old female presenting with cough, sputum, dyspnea, and chest pain, whose CT showed scattered ground-glass and solid nodules, initially misdiagnosed as non-small cell carcinoma with nodal metastasis via percutaneous biopsy but ultimately confirmed as PEHE through immunohistochemistry (positive CD34/CD31/ERG). These cases underscore the diagnostic pitfalls of PEHE and aim to enhance awareness among clinicians and pathologists. A comprehensive review of current literature is also provided.

#2

Diagnostic Utility of Contrast-Enhanced Ultrasound and Multimodal Imaging in Splenic Angiosarcoma: A Pathologically Confirmed Case Report.

Journal of clinical ultrasound : JCU2026 Jan 22

Splenic angiosarcoma is an extremely rare and highly aggressive malignant vascular tumor with nonspecific clinical manifestations and variable imaging appearances. We report a case of a middle-aged male presenting with progressive upper abdominal discomfort and a large splenic mass accompanied by cardiophrenic lymphadenopathy and peritoneal involvement. Ultrasound, contrast-enhanced ultrasound (CEUS), computed tomography (CT), and magnetic resonance imaging (MRI) demonstrated aggressive imaging features highly suggestive of malignancy. Ultrasound-guided biopsies of both the splenic lesion and cardiophrenic lymph nodes revealed malignant vascular proliferation with spindle and epithelioid morphology, a high Ki-67 proliferation index, and diffuse endothelial marker positivity, confirming the diagnosis of splenic angiosarcoma. This case highlights the diagnostic value of CEUS combined with multimodal imaging in the early recognition and accurate diagnosis of malignant splenic vascular tumors.

#3

Diagnosis, treatment, and prognosis of scalp angiosarcoma: A case report.

Medicine2026 Jan 09

Scalp angiosarcoma is a rare malignant vascular tumor with the characteristics of occult early symptoms, no specificity, a high misdiagnosis rate, strong invasion, and poor prognosis. The 5-year survival rate is <30%. The accumulation of rare cases is of great significance for optimizing diagnosis and treatment. A 78-year-old man presented with a dark-brown nodule on the top of the head 2 months ago, which progressively enlarged with ulceration, erosion, and easy bleeding. Topical antibiotic therapy was ineffective. Imaging showed a mass with an unclear inferior boundary and rich blood flow (without bone destruction). Dermoscopy showed invasive growth with abnormal blood vessels. The diagnosis was confirmed by pathology and immunohistochemistry (positive for CD31, CD34, and ERG). Angiosarcoma of the scalp was confirmed based on skin pathology and immunohistochemical results. The scalp tumor was surgically removed under general anesthesia, and skin from the thigh was taken for transplantation. Skin necrosis and skull exposure in the graft area after the operation. The patient refused further repair treatment, imaging evaluation, radiotherapy, and chemotherapy, and died of massive hemoptysis 5 months after surgery. Early identification and standardized comprehensive treatment are the core to improving prognosis. In clinical practice, it is necessary to accumulate rare cases, improve disease cognition, optimize diagnosis and treatment processes, and strengthen treatment compliance management to reduce mortality and improve quality of life.

#4

Canine Cardiac and Cardiovascular Pathology: Four Major Life-Threatening Non-Degenerative, Non-Hereditary Conditions.

Veterinary sciences2025 Nov 04

Cardiovascular diseases in dogs have diverse causes and may progress rapidly to life-threatening complications. This review outlines the relevant pathological conditions involving the cardiovascular system in dogs, especially the myocardium, including myocarditis caused by canine parvovirus (CPV-2), heartworm disease (Dirofilaria immitis), hemangiosarcoma, and polyarteritis nodosa (PAN). CPV-2 affects the myocardium of puppies during the early weeks of life, leading to necrosis, fibrosis, and congestive heart failure. Heartworm disease is caused by adult D. immitis residing mainly in the pulmonary arteries, inducing pulmonary hypertension, right ventricular overload, and vascular damage, with the severity being related to the worm burden and duration of infestation. Hemangiosarcoma is a malignant vascular tumor, most frequently originating in the spleen or right atrium, often diagnosed at an advanced stage, with widespread metastases. Polyarteritis nodosa in dogs is a necrotizing, systemic vasculitis of medium-sized arteries that may affect the coronary arteries of the heart. Its pathogenesis is still unclear, though an immune-mediated mechanism is suspected. By presenting these lesions, the review underscores the many factors that can trigger cardiovascular diseases in dogs, as well as the clinical significance and the need for further research into their pathogenesis and treatment.

#5

A review of cutaneous angiosarcoma: epidemiology, diagnosis, prognosis, and treatment options.

Japanese journal of clinical oncology2025 Jul 06

Cutaneous angiosarcoma (cAS) is a rare and aggressive malignant vascular tumor that arises from endothelial cells lining the blood vessels. It can occur in any part of the body, but most commonly, it affects the skin and soft tissues. cAS has a poor prognosis with a 5-year survival rate of only 9%. This review summarizes the current understanding of angiosarcoma pathogenesis, clinical presentation, diagnosis, and treatment approaches. Recent advances in molecular characterization have identified recurrent genetic alterations that may lead to the development of novel targeted therapies. Multidisciplinary management combining surgery, radiation, and systemic therapy remains the mainstay of treatment; however, outcomes remain poor for metastatic disease. Ongoing research into the molecular drivers of cAS and immunotherapeutic approaches offers hope for improving the outcomes of this challenging malignancy. This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the treatment of childhood vascular tumors. It is intended as a resource to inform and assist clinicians in the care of their patients. It does not provide formal guidelines or recommendations for making health care decisions. This summary is reviewed regularly and updated as necessary by the PDQ Pediatric Treatment Editorial Board, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH). This PDQ cancer information summary has current information about the treatment of childhood vascular tumors. It is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care. Editorial Boards write the PDQ cancer information summaries and keep them up to date. These Boards are made up of experts in cancer treatment and other specialties related to cancer. The summaries are reviewed regularly and changes are made when there is new information. The date on each summary ("Date Last Modified") is the date of the most recent change. The information in this patient summary was taken from the health professional version, which is reviewed regularly and updated as needed, by the PDQ Pediatric Treatment Editorial Board.

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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. Clinical and pathological analysis of pulmonary epithelioid vascular endothelial tumor.
    Open life sciences· 2026· PMID 41726558mais citado
  2. Diagnostic Utility of Contrast-Enhanced Ultrasound and Multimodal Imaging in Splenic Angiosarcoma: A Pathologically Confirmed Case Report.
    Journal of clinical ultrasound : JCU· 2026· PMID 41572525mais citado
  3. Diagnosis, treatment, and prognosis of scalp angiosarcoma: A case report.
    Medicine· 2026· PMID 41517758mais citado
  4. Canine Cardiac and Cardiovascular Pathology: Four Major Life-Threatening Non-Degenerative, Non-Hereditary Conditions.
    Veterinary sciences· 2025· PMID 41295698mais citado
  5. A review of cutaneous angiosarcoma: epidemiology, diagnosis, prognosis, and treatment options.
    Japanese journal of clinical oncology· 2025· PMID 40381218mais citado
  6. Radiation-induced angiosarcoma of the breast - experience from clinical practice.
    Ceska Gynekol· 2025· PMID 41170797recente

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