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NÃO RARA NA EUROPA: Melanoma
ORPHA:411533DOENÇA RARA

Tumor maligno, geralmente agressivo, composto por melanócitos neoplásicos atípicos. Na maioria das vezes, os melanomas surgem na pele (melanomas cutâneos) e incluem os seguintes subtipos histológicos: melanoma extensivo superficial, melanoma nodular, melanoma lentiginoso acral e melanoma lentigo maligno. Os melanomas cutâneos podem surgir de nevos melanocíticos ou displásicos adquiridos ou congênitos. Os melanomas também podem surgir em outros locais anatômicos, incluindo o sistema gastrointestinal, olhos, trato urinário e sistema reprodutivo. Os melanomas freqüentemente metastatizam para os gânglios linfáticos, fígado, pulmões e cérebro.

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Introdução

O que você precisa saber de cara

📋

Tumor maligno, geralmente agressivo, composto por melanócitos neoplásicos atípicos. Na maioria das vezes, os melanomas surgem na pele (melanomas cutâneos) e incluem os seguintes subtipos histológicos: melanoma extensivo superficial, melanoma nodular, melanoma lentiginoso acral e melanoma lentigo maligno. Os melanomas cutâneos podem surgir de nevos melanocíticos ou displásicos adquiridos ou congênitos. Os melanomas também podem surgir em outros locais anatômicos, incluindo o sistema gastrointestinal, olhos, trato urinário e sistema reprodutivo. Os melanomas freqüentemente metastatizam para os gânglios linfáticos, fígado, pulmões e cérebro.

Pesquisas ativas
40 ensaios
3682 total registrados no ClinicalTrials.gov
Publicações científicas
154.059 artigos
Último publicado: 2026 Apr 17
🏥
SUS: Sem cobertura SUSScore: 0%
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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

👁️
Olhos
7 sintomas
🧬
Pele e cabelo
3 sintomas
🩸
Sangue
1 sintomas
🫃
Digestivo
1 sintomas

+ 17 sintomas em outras categorias

Características mais comuns

Melanoma uveal
Perda visual
Melanoma
Neoplasia do estômago
Neoplasia da mama
Melanoma coroide
29sintomas
Sem dados (29)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.

Melanoma uvealUveal melanoma
Perda visualVisual loss
Melanoma
Neoplasia do estômagoNeoplasm of the stomach
Neoplasia da mamaNeoplasm of the breast

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Total histórico154.059PubMed
Últimos 10 anos96publicações
Pico202013 papers
Linha do tempo
20202015Hoje · 2026📈 2020Ano 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

15 genes identificados com associação a esta condição.

CDK4Cyclin-dependent kinase 4Candidate gene tested inRestrito
FUNÇÃO

Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are ma

LOCALIZAÇÃO

CytoplasmNucleusNucleus membrane

VIAS BIOLÓGICAS (7)
Cyclin D associated events in G1Transcriptional regulation by RUNX2Ubiquitin-dependent degradation of Cyclin DMeiotic recombinationRMTs methylate histone arginines
MECANISMO DE DOENÇA

Melanoma, cutaneous malignant 3

A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites.

OUTRAS DOENÇAS (4)
familial melanomadedifferentiated liposarcomawell-differentiated liposarcomamelanoma, cutaneous malignant, susceptibility to, 3
HGNC:1773UniProt:P11802
GNA11Guanine nucleotide-binding protein subunit alpha-11Candidate gene tested inAltamente restrito
FUNÇÃO

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:31073061). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:31073061). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, t

LOCALIZAÇÃO

Cell membraneCytoplasm

VIAS BIOLÓGICAS (10)
PLC beta mediated eventsG-protein activationADP signalling through P2Y purinoceptor 1G alpha (q) signalling eventsThrombin signalling through proteinase activated receptors (PARs)
MECANISMO DE DOENÇA

Hypocalciuric hypercalcemia, familial 2

A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
153.0 TPM
Cérebro - Hemisfério cerebelar
140.5 TPM
Testículo
104.7 TPM
Esôfago - Muscular
97.3 TPM
Fallopian Tube
94.3 TPM
OUTRAS DOENÇAS (8)
autosomal dominant hypocalcemia 2familial hypocalciuric hypercalcemia 2anastomosing haemangiomauveal melanoma
HGNC:4379UniProt:P29992
GNAQGuanine nucleotide-binding protein G(q) subunit alphaCandidate gene tested inAltamente restrito
FUNÇÃO

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:34556863, PubMed:35672283, PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:37991948). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:37991948). The alpha subunit has a low GTPase activity

LOCALIZAÇÃO

Cell membraneGolgi apparatusNucleusNucleus membrane

VIAS BIOLÓGICAS (10)
PLC beta mediated eventsG-protein activationADP signalling through P2Y purinoceptor 1G alpha (q) signalling eventsThrombin signalling through proteinase activated receptors (PARs)
MECANISMO DE DOENÇA

Capillary malformations, congenital

A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
54.7 TPM
Brain Frontal Cortex BA9
54.1 TPM
Brain Spinal cord cervical c-1
53.3 TPM
Pulmão
51.6 TPM
Aorta
48.3 TPM
OUTRAS DOENÇAS (5)
Sturge-Weber syndromefamilial multiple nevi flammeianastomosing haemangiomauveal melanoma
HGNC:4390UniProt:P50148
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
POT1Protection of telomeres protein 1Candidate gene tested inTolerante
FUNÇÃO

Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus

LOCALIZAÇÃO

NucleusChromosome, telomere

VIAS BIOLÓGICAS (10)
DNA Damage/Telomere Stress Induced SenescencePackaging Of Telomere EndsMeiotic synapsisInhibition of DNA recombination at telomereTelomere C-strand (Lagging Strand) Synthesis
MECANISMO DE DOENÇA

Tumor predisposition syndrome 3

An autosomal dominant disorder characterized by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance. Affected individuals can develop neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as lymphoid and myeloid cancers. The disorder is associated with elongated telomeres.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
22.7 TPM
Nervo tibial
15.9 TPM
Testículo
15.3 TPM
Cervix Ectocervix
13.7 TPM
Útero
13.5 TPM
OUTRAS DOENÇAS (7)
tumor predisposition syndrome 3pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8cerebroretinal microangiopathy with calcifications and cysts 3oligodendroglioma
HGNC:17284UniProt:Q9NUX5
CDKN2BCyclin-dependent kinase 4 inhibitor BCandidate gene tested inTolerante
FUNÇÃO

Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (5)
Cyclin D associated events in G1Senescence-Associated Secretory Phenotype (SASP)Oncogene Induced SenescenceOxidative Stress Induced SenescenceSMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
OUTRAS DOENÇAS (2)
familial melanomamultiple endocrine neoplasia type 1
HGNC:1788UniProt:P42772
SF3B1Splicing factor 3B subunit 1Candidate gene tested inAltamente restrito
FUNÇÃO

Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310, PubMed:36104565). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing

LOCALIZAÇÃO

NucleusNucleus speckle

VIAS BIOLÓGICAS (5)
Dengue Virus-Host InteractionsmRNA Splicing - Major PathwaymRNA PolyadenylationmRNA Splicing - Minor PathwayB-WICH complex positively regulates rRNA expression
EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Endocervix
245.2 TPM
Útero
235.8 TPM
Ovário
231.2 TPM
Cervix Ectocervix
226.6 TPM
Baço
211.5 TPM
OUTRAS DOENÇAS (3)
myelodysplastic syndromeuveal melanomamyelodysplastic syndrome with ring sideroblasts
HGNC:10768UniProt:O75533
MITFMicrophthalmia-associated transcription factorCandidate gene tested inAltamente restrito
FUNÇÃO

Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Involved in the cellular response to amino acid availability by acting down

LOCALIZAÇÃO

NucleusCytoplasmLysosome membrane

VIAS BIOLÓGICAS (2)
Transcriptional and post-translational regulation of MITF-M expression and activitySUMOylation of transcription factors
MECANISMO DE DOENÇA

Waardenburg syndrome 2A

WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Ectocervix
70.8 TPM
Cervix Endocervix
58.0 TPM
Útero
57.6 TPM
Músculo esquelético
25.9 TPM
Esôfago - Muscular
24.4 TPM
OUTRAS DOENÇAS (9)
Waardenburg syndrome type 2ATietz syndromecoloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnesspapillary renal cell carcinoma
HGNC:7105UniProt:O75030
MGMTMethylated-DNA--protein-cysteine methyltransferaseCandidate gene tested inTolerante
FUNÇÃO

Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
MGMT-mediated DNA damage reversal
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
38.0 TPM
Testículo
25.7 TPM
Tecido adiposo
25.1 TPM
Mama
24.2 TPM
Bladder
23.6 TPM
OUTRAS DOENÇAS (3)
gliosarcomafamilial melanomagiant cell glioblastoma
HGNC:7059UniProt:P16455
TERF2IPTelomeric repeat-binding factor 2-interacting protein 1Candidate gene tested inTolerante
FUNÇÃO

Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repr

LOCALIZAÇÃO

NucleusCytoplasmChromosomeChromosome, telomere

VIAS BIOLÓGICAS (10)
DNA Damage/Telomere Stress Induced SenescencePackaging Of Telomere EndsMeiotic synapsisInhibition of DNA recombination at telomereTelomere C-strand (Lagging Strand) Synthesis
EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
302.5 TPM
Cerebelo
219.2 TPM
Brain Frontal Cortex BA9
186.8 TPM
Pituitária
180.2 TPM
Hipotálamo
156.5 TPM
OUTRAS DOENÇAS (1)
familial melanoma
HGNC:19246UniProt:Q9NYB0
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
BAP1Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1Candidate gene tested inAltamente restrito
FUNÇÃO

Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity)

LOCALIZAÇÃO

Cell junction, tight junctionCell membrane

VIAS BIOLÓGICAS (2)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksUCH proteinases
OUTRAS DOENÇAS (8)
Kury-Isidor syndromeBAP1-related tumor predisposition syndromecomplex neurodevelopmental disordermeningioma
HGNC:950UniProt:Q96QZ7
CYSLTR2Cysteinyl leukotriene receptor 2Candidate gene tested inDesconhecido
FUNÇÃO

Receptor for cysteinyl leukotrienes. The response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (4)
G alpha (q) signalling eventsLeukotriene receptorsLTC4-CYSLTR mediated IL4 productionG alpha (s) signalling events
EXPRESSÃO TECIDUAL(Tecido-específico)
Glândula adrenal
7.5 TPM
Coração - Átrio
4.8 TPM
Baço
3.1 TPM
Coração - Ventrículo esquerdo
2.8 TPM
Brain Anterior cingulate cortex BA24
1.9 TPM
OUTRAS DOENÇAS (1)
uveal melanoma
HGNC:18274UniProt:Q9NS75
MC1RMelanocyte-stimulating hormone receptorCandidate gene tested inDesconhecido
FUNÇÃO

G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and adrenocorticotropic hormone/ACTH, which are peptide products of the POMC precursor protein (PubMed:11442765, PubMed:11707265, PubMed:1325670, PubMed:1516719, PubMed:8463333). Upon activation, MC1R couples with the G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signaling pathway. This activation promotes melanogenesis, resulting in the production of eumelanin (blac

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (3)
G alpha (s) signalling eventsPeptide ligand-binding receptorsTranscriptional and post-translational regulation of MITF-M expression and activity
MECANISMO DE DOENÇA

Melanoma, cutaneous malignant 5

A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
53.9 TPM
Pituitária
34.8 TPM
Cerebelo
32.6 TPM
Cérebro - Hemisfério cerebelar
29.1 TPM
Tireoide
26.9 TPM
OUTRAS DOENÇAS (4)
obsolete skin/hair/eye pigmentation, variation in, 2familial melanomaoculocutaneous albinism type 2melanoma, cutaneous malignant, susceptibility to, 5
HGNC:6929UniProt:Q01726
ACDAdrenocortical dysplasia protein homologCandidate gene tested inTolerante
FUNÇÃO

Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of P

LOCALIZAÇÃO

NucleusChromosome, telomere

VIAS BIOLÓGICAS (10)
DNA Damage/Telomere Stress Induced SenescencePackaging Of Telomere EndsMeiotic synapsisInhibition of DNA recombination at telomereTelomere C-strand (Lagging Strand) Synthesis
MECANISMO DE DOENÇA

Dyskeratosis congenita, autosomal dominant, 6

A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.

OUTRAS DOENÇAS (4)
dyskeratosis congenita, autosomal dominant 6inherited aplastic anemiafamilial melanomaHoyeraal-Hreidarsson syndrome
HGNC:25070UniProt:Q96AP0

Variantes genéticas (ClinVar)

182 variantes patogênicas registradas no ClinVar.

🧬 ACD: NM_001082486.2(ACD):c.742G>C (p.Gly248Arg) ()
🧬 ACD: GRCh37/hg19 16q22.1(chr16:67538639-69583342)x1 ()
🧬 ACD: NM_001082486.2(ACD):c.89_92dup (p.Leu32fs) ()
🧬 ACD: GRCh37/hg19 16q22.1(chr16:67322830-69368947)x1 ()
🧬 ACD: NM_001082486.2(ACD):c.-37C>G ()
Ver todas no ClinVar

Vias biológicas (Reactome)

69 vias biológicas associadas aos genes desta condição.

SCF(Skp2)-mediated degradation of p27/p21 Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) Oncogene Induced Senescence RMTs methylate histone arginines Transcriptional regulation of white adipocyte differentiation Cyclin D associated events in G1 Ubiquitin-dependent degradation of Cyclin D PTK6 Regulates Cell Cycle Transcriptional regulation by RUNX2 Meiotic recombination Transcriptional regulation of granulopoiesis 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 Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) Drug-mediated inhibition of CDK4/CDK6 activity SPOP-mediated proteasomal degradation of PD-L1(CD274) PLC beta mediated events G-protein activation Acetylcholine regulates insulin secretion G alpha (q) signalling events ADP signalling through P2Y purinoceptor 1 Thromboxane signalling through TP receptor Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion Thrombin signalling through proteinase activated receptors (PARs) Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells Transcriptional Regulation by VENTX Regulation of MITF-M-dependent genes involved in cell cycle and proliferation Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Telomere Extension By Telomerase Polymerase switching on the C-strand of the telomere Processive synthesis on the C-strand of the telomere Telomere C-strand (Lagging Strand) Synthesis Telomere C-strand synthesis initiation Removal of the Flap Intermediate from the C-strand DNA Damage/Telomere Stress Induced Senescence Inhibition of DNA recombination at telomere SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription B-WICH complex positively regulates rRNA expression mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway mRNA Polyadenylation Dengue Virus-Host Interactions SUMOylation of transcription factors Regulation of MITF-M-dependent genes involved in pigmentation Regulation of MITF-M-dependent genes involved in apoptosis Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence Regulation of MITF-M dependent genes involved in metabolism Regulation of MITF-M dependent genes involved in invasion Transcriptional and post-translational regulation of MITF-M expression and activity Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition MGMT-mediated DNA damage reversal Formation of the beta-catenin:TCF transactivating complex UCH proteinases Epigenetic regulation of gene expression by MLL3 and MLL4 complexes Leukotriene receptors G alpha (s) signalling events LTC4-CYSLTR mediated IL4 production Peptide ligand-binding receptors

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.
Aprovado2
3Fase 32
2Fase 26
1Fase 18
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
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Onde tratar no SUS

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🇧🇷 Atendimento SUS — NÃO RARA NA EUROPA: Melanoma

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Selecione um estado ou use sua localização para ver resultados.

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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20 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

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📖Melhor nível de evidência: Revisão
Timeline de publicações
72.330 papers (10 anos)

Mostrando amostra de 96 publicações de um total de 72.330

#1

Insights into RAS-driven melanoma and its therapeutic implications.

Cancer treatment reviews2026 Feb

O melanoma com mutações no gene NRAS, que afeta 15-25% dos casos cutâneos, é atualmente tratado principalmente com imunoterapia anti-PD-1, já que os inibidores de MEK demonstraram benefício clínico limitado. Contudo, há um futuro promissor com diversas novas terapias em desenvolvimento, incluindo combinações de drogas, inibidores diretos de RAS e até vacinas específicas para as mutações. Para médicos e pacientes, é crucial que o tratamento seja cada vez mais personalizado e guiado por biomarcadores para otimizar os resultados e a gestão desta doença.

🇧🇷 traduzido
#2

Intraepithelial Penile Lesions.

Advances in anatomic pathology2026 Mar 01

Este artigo descreve lesões intraepiteliais penianas, que incluem desde condições não-neoplásicas como condilomas (geralmente associados ao HPV) até lesões pré-neoplásicas, como a Neoplasia Intraepitelial Peniana (PeIN). A PeIN é crucial para médicos e pacientes devido ao seu potencial de progressão para câncer, sendo na Europa frequentemente associada ao HPV ou, em outros casos, a fatores como inflamações crônicas; e, embora raros, melanomas in situ primários do pênis também são descritos.

🇧🇷 traduzido
#3

Global burden of lower respiratory infections and aetiologies, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

The Lancet. Infectious diseases2025 Dec 15

As infecções respiratórias inferiores (IRIs) continuam sendo a principal causa infecciosa de morte global, afetando desproporcionalmente crianças menores de 5 anos e adultos com mais de 70. O *Streptococcus pneumoniae* é o patógeno mais letal, mas o estudo também aponta para a importância crescente de micobactérias não tuberculosas e *Aspergillus spp*. Para médicos e pacientes, é crucial que o acesso equitativo a vacinas (incluindo novas para vírus sincicial respiratório), diagnóstico precoce e tratamentos eficazes seja ampliado, especialmente em regiões de alta mortalidade como a África Subsaariana, para sustentar os avanços na saúde infantil e abordar a vulnerabilidade crescente em idosos.

🇧🇷 traduzido
#4

Global, regional, and national burden of chronic kidney disease in adults, 1990-2023, and its attributable risk factors: a systematic analysis for the Global Burden of Disease Study 2023.

Lancet (London, England)2025 Nov 22

A Doença Renal Crônica (DRC) é um grave e crescente problema de saúde global, afetando 788 milhões de adultos em 2023, sendo a nona principal causa de morte e a 12ª de incapacidade mundial. Para pacientes e médicos, é crucial saber que a DRC eleva significativamente o risco de mortes cardiovasculares e está fortemente ligada a fatores controláveis como glicose alta no sangue, obesidade e pressão arterial elevada. Isso sublinha a necessidade urgente de melhor rastreamento, prevenção e controle desses fatores para mitigar a progressão da doença e melhorar os resultados dos pacientes.

🇧🇷 traduzido
#5

Global burden of 292 causes of death in 204 countries and territories and 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Lancet (London, England)2025 Oct 18

Este estudo, o Global Burden of Disease Study 2023 (GBD 2023), oferece uma análise abrangente das causas de morte global entre 1990 e 2023, revelando que a idade média de morte aumentou significativamente. Apesar do impacto temporário da COVID-19 nas classificações, doenças cardíacas e AVC continuam sendo as principais causas, enquanto houve progresso em reduzir algumas infecciosas e um aumento das doenças não-transmissíveis (DNTs) em regiões de baixa renda. Para pacientes e profissionais de saúde, este estudo sublinha a necessidade de sistemas de saúde robustos e intervenções focadas para reduzir a mortalidade prematura e as grandes disparidades globais, embora o resumo fornecido não detalhe dados específicos sobre melanoma.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 96

2026

Insights into RAS-driven melanoma and its therapeutic implications.

Cancer treatment reviews
2026

Intraepithelial Penile Lesions.

Advances in anatomic pathology
2025

Global burden of lower respiratory infections and aetiologies, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

The Lancet. Infectious diseases
2025

Identification of a novel PRUNE2::NTRK2 gene fusion in soft tissue sarcoma patients-friend or foe? Case series.

Therapeutic advances in medical oncology
2025

Radiotherapy of sinonasal cancers: 2025 update.

Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologique
2025

Global, regional, and national burden of chronic kidney disease in adults, 1990-2023, and its attributable risk factors: a systematic analysis for the Global Burden of Disease Study 2023.

Lancet (London, England)
2025

Global burden of 292 causes of death in 204 countries and territories and 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Lancet (London, England)
2025

Burden of 375 diseases and injuries, risk-attributable burden of 88 risk factors, and healthy life expectancy in 204 countries and territories, including 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Lancet (London, England)
2025

Consider the unexpected! An overlooked, elusive, rare but dramatic diagnosis: anorectal melanoma.

Updates in surgery
2025

Association between ovarian sex cord-stromal tumors and non-hormone-sensitive cancers: A nationwide nested cohort study.

Journal of gynecology obstetrics and human reproduction
2025

Combined immunotherapy with nivolumab and ipilimumab with and without sequential or concomitant stereotactic radiotherapy in patients with melanoma brain metastasis: An international retrospective study.

European journal of cancer (Oxford, England : 1990)
2025

Risk of cancer in patients with rheumatoid arthritis under tocilizumab: Data from the French national registry REGATE.

Joint bone spine
2025

Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.

Molecular diagnosis & therapy
2025

Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk.

Pigment cell & melanoma research
2024

Diagnostic trajectories of patients with rare cancer in the Netherlands: results from a nationwide cross-sectional survey.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer
2025

Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.

Pigment cell & melanoma research
2024

Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data.

Journal of medical genetics
2024

Spectrum and Frequency of BRAF Mutations in Skin Melanomas in the Dalmatian Region of Croatia.

Acta dermatovenerologica Croatica : ADC
2024

Vimseltinib versus placebo for tenosynovial giant cell tumour (MOTION): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

Lancet (London, England)
2024

Recommendations for the use of next-generation sequencing (NGS) for patients with advanced cancer in 2024: a report from the ESMO Precision Medicine Working Group.

Annals of oncology : official journal of the European Society for Medical Oncology
2023

Skin Changes in Suspected Lyme Disease.

Acta dermatovenerologica Croatica : ADC
2024

Comprehensive genomic profiling on metastatic Melanoma: results from a network screening from 7 Italian Cancer Centres.

Journal of translational medicine
2024

Sequential immunotherapy and targeted therapy for metastatic BRAF V600 mutated melanoma: 4-year survival and biomarkers evaluation from the phase II SECOMBIT trial.

Nature communications
2023

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.

European journal of human genetics : EJHG
2023

Quality indicators: completeness, validity and timeliness of cancer registry data contributing to the European Cancer Information System.

Frontiers in oncology
2023

Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor.

Cold Spring Harbor molecular case studies
2023

'Get Data Out' Skin: national cancer registry incidence and survival rates for all registered skin tumour groups for 2013-2019 in England.

The British journal of dermatology
2023

CINSARC in high-risk soft tissue sarcoma patients treated with neoadjuvant chemotherapy: Results from the ISG-STS 1001 study.

Cancer medicine
2022

The Transcriptional Landscape of BRAF Wild Type Metastatic Melanoma: A Pilot Study.

International journal of molecular sciences
2022

Single-agent anti-PD-1 or combined with ipilimumab in patients with mucosal melanoma: an international, retrospective, cohort study.

Annals of oncology : official journal of the European Society for Medical Oncology
2022

Nationwide multidisciplinary consensus on the clinical management of Merkel cell carcinoma: a Delphi panel.

Journal for immunotherapy of cancer
2022

Global Burden of Cutaneous Melanoma in 2020 and Projections to 2040.

JAMA dermatology
2022

Clinical features, molecular characteristics and surgical management of primary penile mucosal melanoma based on the European Association of Urology Penile Cancer Guidelines.

Melanoma research
2022

Gastrointestinal stromal tumours: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up.

Annals of oncology : official journal of the European Society for Medical Oncology
2021

Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up.

Annals of oncology : official journal of the European Society for Medical Oncology
2021

Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up☆.

Annals of oncology : official journal of the European Society for Medical Oncology
2021

European Reference Network for rare adult solid cancers, statement and integration to health care systems of member states: a position paper of the ERN EURACAN.

ESMO open
2022

Caucasians with acral lentiginous melanoma have the same outcome as patients with stage- and limb-matched superficial spreading melanoma.

Journal of cancer research and clinical oncology
2021

Systemic therapies in advanced epithelioid haemangioendothelioma: A retrospective international case series from the World Sarcoma Network and a review of literature.

Cancer medicine
2021

Avelumab treatment in Italian patients with metastatic Merkel cell carcinoma: experience from an expanded access program.

Journal of translational medicine
2020

A systematic review and meta-analysis of neurotrophic tyrosine receptor kinase gene fusion frequencies in solid tumors.

Therapeutic advances in medical oncology
2021

The surgical treatment of non-metastatic melanoma in a Clinical National Melanoma Registry Study Group (CNMR): a retrospective cohort quality improvement study to reduce the morbidity rates.

BMC cancer
2020

Efficacy of Electrochemotherapy in the Treatment of Cutaneous Melanoma Metastases and Rare Non-melanoma Skin Cancer.

Anticancer research
2020

Incidence and Mortality of Second Primary Cancers in Danish Patients With Retinoblastoma, 1943-2013.

JAMA network open
2020

Preoperative radiotherapy plus surgery versus surgery alone for patients with primary retroperitoneal sarcoma (EORTC-62092: STRASS): a multicentre, open-label, randomised, phase 3 trial.

The Lancet. Oncology
2020

Survival outcomes of patients with advanced mucosal melanoma diagnosed from 2013 to 2017 in the Netherlands - A nationwide population-based study.

European journal of cancer (Oxford, England : 1990)
2020

Ano-uro-genital mucosal melanoma UK national guidelines.

European journal of cancer (Oxford, England : 1990)
2020

Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma.

Pigment cell & melanoma research
2020

Quality of treatment and surgical approach for rectal gastrointestinal stromal tumour (GIST) in a large European cohort.

European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
2020

Incidence and Survival of Patients With Conjunctival Melanoma in Europe.

JAMA ophthalmology
2020

Phase 2 study of pembrolizumab in patients with advanced rare cancers.

Journal for immunotherapy of cancer
2019

Incidence and mortality for cutaneous squamous cell carcinoma: comparison across three continents.

Journal of the European Academy of Dermatology and Venereology : JEADV
2020

Systemic treatments in MDM2 positive intimal sarcoma: A multicentre experience with anthracycline, gemcitabine, and pazopanib within the World Sarcoma Network.

Cancer
2019

A novel germline variant in the DOT1L gene co-segregating in a Dutch family with a history of melanoma.

Melanoma research
2019

Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.

Melanoma research
2020

Genetic epidemiology of colorectal cancer and associated cancers.

Mutagenesis
2020

Familial aggregation of early-onset cancers.

International journal of cancer
2019

Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

Human molecular genetics
2019

Comparison of quality of life between melanoma and non-melanoma skin cancer patients.

European journal of dermatology : EJD
2019

Population-based analysis of BAP1 germline variations in patients with uveal melanoma.

Human molecular genetics
2019

Defining and listing very rare cancers of paediatric age: consensus of the Joint Action on Rare Cancers in cooperation with the European Cooperative Study Group for Pediatric Rare Tumors.

European journal of cancer (Oxford, England : 1990)
2019

Risk of cancer in children and young adults conceived by assisted reproductive technology.

Human reproduction (Oxford, England)
2019

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.

The British journal of dermatology
2018

BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.

PloS one
2018

Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.

Human molecular genetics
2019

Incidence and characteristics of thick second primary melanomas: a study of the German Central Malignant Melanoma Registry.

Journal of the European Academy of Dermatology and Venereology : JEADV
2018

Merkel cell carcinoma: Clinical outcome and prognostic factors in 351 patients.

Journal of surgical oncology
2018

Crizotinib in patients with advanced, inoperable inflammatory myofibroblastic tumours with and without anaplastic lymphoma kinase gene alterations (European Organisation for Research and Treatment of Cancer 90101 CREATE): a multicentre, single-drug, prospective, non-randomised phase 2 trial.

The Lancet. Respiratory medicine
2018

Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.

G3 (Bethesda, Md.)
2018

Pediatric patients with cutaneous melanoma: A European study.

Pediatric blood & cancer
2018

Treatment of conjunctival melanoma in a Dutch referral centre.

The British journal of ophthalmology
2017

Clinical characteristics and outcome of 60 pediatric patients with malignant melanoma registered with the German Pediatric Rare Tumor Registry (STEP).

Klinische Padiatrie
2018

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.

Pigment cell & melanoma research
2017

Ultrasound-based follow-up does not increase survival in early-stage melanoma patients: A comparative cohort study.

European journal of cancer (Oxford, England : 1990)
2017

Satisfaction of mountain guides with high sun protection as a tool to prevent non-melanoma skin cancer.

Journal of the European Academy of Dermatology and Venereology : JEADV
2017

Sinonasal mucosal melanoma: A 44-case study and literature analysis.

European annals of otorhinolaryngology, head and neck diseases
2017

Do outdoor workers know their risk of NMSC? Perceptions, beliefs and preventive behaviour among farmers, roofers and gardeners.

Journal of the European Academy of Dermatology and Venereology : JEADV
2017

Prognostic role of the histological subtype of melanoma on the hands and feet in Caucasians.

Melanoma research
2017

Risk of other Cancers in Families with Melanoma: Novel Familial Links.

Scientific reports
2016

Prognostic value of two tumour staging classifications in patients with sinonasal mucosal melanoma.

European annals of otorhinolaryngology, head and neck diseases
2016

The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

The Journal of clinical endocrinology and metabolism
2016

Associations between childhood height and morphologically different variants of melanoma in adulthood.

European journal of cancer (Oxford, England : 1990)
2017

Risk of invasive melanoma in patients with rheumatoid arthritis treated with biologics: results from a collaborative project of 11 European biologic registers.

Annals of the rheumatic diseases
2016

Conjunctival malignant melanoma in Denmark: epidemiology, treatment and prognosis with special emphasis on tumorigenesis and genetic profile.

Acta ophthalmologica
2016

The occurrence of non-melanoma malignant skin lesions and non-cutaneous squamous-cell carcinoma among metastatic melanoma patients: an observational cohort study in Denmark.

BMC cancer
2016

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

Journal of the American Academy of Dermatology
2015

A Retrospective Review of Conjunctival Melanoma Presentation, Treatment, and Outcome and an Investigation of Features Associated With BRAF Mutations.

JAMA ophthalmology
2015

Trends in survival for teenagers and young adults with cancer in the UK 1992-2006.

European journal of cancer (Oxford, England : 1990)
2015

Comparison of melanoma incidence and trends among youth under 25 years in Australia and England, 1990-2010.

International journal of cancer
2015

High nevus counts confer a favorable prognosis in melanoma patients.

International journal of cancer
2015

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PloS one
2015

443 paediatric cases of malignant melanoma registered with the German Central Malignant Melanoma Registry between 1983 and 2011.

European journal of cancer (Oxford, England : 1990)
2015

The forthcoming inexorable decline of cutaneous melanoma mortality in light-skinned populations.

European journal of cancer (Oxford, England : 1990)
2015

Sinonasal malignancies in Sweden 1960-2010; a nationwide study of the Swedish population.

Rhinology
2015

Cancer-specific variation in emergency presentation by sex, age and deprivation across 27 common and rarer cancers.

British journal of cancer
2015

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

Annals of neurology

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Doenças relacionadas

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Referências e fontes

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. Insights into RAS-driven melanoma and its therapeutic implications.
    Cancer treatment reviews· 2026· PMID 41576808mais citado
  2. Intraepithelial Penile Lesions.
    Advances in anatomic pathology· 2026· PMID 41568455mais citado
  3. Global burden of lower respiratory infections and aetiologies, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.
    The Lancet. Infectious diseases· 2025· PMID 41412141mais citado
  4. Global, regional, and national burden of chronic kidney disease in adults, 1990-2023, and its attributable risk factors: a systematic analysis for the Global Burden of Disease Study 2023.
    Lancet (London, England)· 2025· PMID 41213283mais citado
  5. Global burden of 292 causes of death in 204 countries and territories and 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.
    Lancet (London, England)· 2025· PMID 41092928mais citado
  6. Acral Melanoma Following Trauma: A Systematic Review and Meta-Analysis.
    J Cutan Med Surg· 2026· PMID 41995386recente
  7. JI-CJ002 and Dabrafenib Combination Enhances Antitumor Activity in Melanoma Associated With the Downregulation of B7-H3.
    Cancer Sci· 2026· PMID 41995376recente
  8. The relevance of membrane lipid composition in exosome-based precision dermatology.
    J Eur Acad Dermatol Venereol· 2026· PMID 41995336recente
  9. Setmelanotide in Bardet-Biedl Syndrome: A Case Report.
    Pediatr Dermatol· 2026· PMID 41994885recente
  10. Melanoma of Unknown Primary Presenting as a Renal Mass: A Case Report.
    Cureus· 2026· PMID 41994802recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:411533(Orphanet)
  2. MONDO:0005105(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)

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.

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NÃO RARA NA EUROPA: Melanoma
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NÃO RARA NA EUROPA: Melanoma

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binimetinibMEK inhibitor
cobimetinibRAF inhibitor
dabrafenibDNA alkylating agent
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