# NÃO RARA NA EUROPA: Melanoma

> Página oficial: https://raras.org/doenca/nao-rara-na-europa-melanoma
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 411533 — https://www.orpha.net/en/disease/detail/411533
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

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.

## Epidemiologia e herança


## Sinais e sintomas (29 fenótipos HPO)

- **Melanoma uveal** — HPO: HP:0007716
- **Perda visual** — HPO: HP:0000572
- **Melanoma** — HPO: HP:0002861
- **Neoplasia do estômago** — HPO: HP:0006753
- **Neoplasia da mama** — HPO: HP:0100013
- **Melanoma coroide** — HPO: HP:0012054
- **Hipertensão ocular** — HPO: HP:0007906
- **Catarata zonular** — HPO: HP:0010920
- **Anormalidade inflamatória do olho** — HPO: HP:0100533
- **Pele seca** — HPO: HP:0000958
- **Sardas** — HPO: HP:0001480
- **Anormalidade do cabelo** — HPO: HP:0001595
- **Anormalidade da função motora extrapiramidal** — HPO: HP:0002071
- **Anormalidade do sistema linfático** — HPO: HP:0100763
- **Descolamento de retina** — HPO: HP:0000541
- **Hemorragia vítrea** — HPO: HP:0007902
- **Metamorfopsia** — HPO: HP:0012508
- **Midríase** — HPO: HP:0011499
- **Fotopsia** — HPO: HP:0030786
- **Acomodação visual anormal** — HPO: HP:0030800
- **Melanoma da íris** — HPO: HP:0011524
- **Subluxação inferior do cristalino** — HPO: HP:0008494
- **Morfologia anormal do fundo de olho** — HPO: HP:0001098
- **Melanoma do corpo ciliar** — HPO: HP:0012055
- **Anormalidade da refração** — HPO: HP:0000539
- **Dor ocular** — HPO: HP:0200026
- **Retinopatia** — HPO: HP:0000488
- **Neoplasia do pâncreas** — HPO: HP:0002894
- **Nevo** — HPO: HP:0003764

## Genes associados (15)

- **CDK4** — Cyclin-dependent kinase 4 [Candidate gene tested in]
  - 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 transi
- **GNA11** — Guanine nucleotide-binding protein subunit alpha-11 [Candidate gene tested in]
  - 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 th
- **GNAQ** — Guanine nucleotide-binding protein G(q) subunit alpha [Candidate gene tested in]
  - 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:3799
- **CDKN2A** — Cyclin-dependent kinase inhibitor 2A [Candidate gene tested in]
  - 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 retinoblas
- **POT1** — Protection of telomeres protein 1 [Candidate gene tested in]
  - 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
- **CDKN2B** — Cyclin-dependent kinase 4 inhibitor B [Candidate gene tested in]
  - Função: Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest
- **SF3B1** — Splicing factor 3B subunit 1 [Candidate gene tested in]
  - 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:3
- **MITF** — Microphthalmia-associated transcription factor [Candidate gene tested in]
  - 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). Bi
- **MGMT** — Methylated-DNA--protein-cysteine methyltransferase [Candidate gene tested in]
  - 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 transf
- **TERF2IP** — Telomeric repeat-binding factor 2-interacting protein 1 [Candidate gene tested in]
  - 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 cont
- **TERT** — Telomerase reverse transcriptase [Candidate gene tested in]
  - 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 somati
- **BAP1** — Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 [Candidate gene tested in]
  - 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 expre
- **CYSLTR2** — Cysteinyl leukotriene receptor 2 [Candidate gene tested in]
  - 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, induce
- **MC1R** — Melanocyte-stimulating hormone receptor [Candidate gene tested in]
  - 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 (PubMe
- **ACD** — Adrenocortical dysplasia protein homolog [Candidate gene tested in]
  - 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 telomera

## Ensaios clínicos ativos (40)

- **NCT06743126** [RECRUITING]: SUPRAME-ACTengine® IMA203 vs. Investigator's Choice of Treatment in Previously Treated, Unresectable or Metastatic Cutaneous Melanoma — https://clinicaltrials.gov/study/NCT06743126
- **NCT07504796** [RECRUITING]: ctDNA-guided Addition of Ipilimumab to Patients Receiving Nivolumab and Relatlimab — https://clinicaltrials.gov/study/NCT07504796
- **NCT06150664** [RECRUITING]: A Phase 1 of CTX-8371 in Patients With Advanced Malignancies — https://clinicaltrials.gov/study/NCT06150664
- **NCT03340506** [RECRUITING]: Dabrafenib and/or Trametinib Rollover Study — https://clinicaltrials.gov/study/NCT03340506
- **NCT06326411** [RECRUITING]: A Study to Investigate the Safety and Efficacy of NST-628 Oral Tablets in Subjects With Solid Tumors — https://clinicaltrials.gov/study/NCT06326411
- **NCT05969860** [RECRUITING]: At-Home Cancer Directed Therapy Versus in Clinic for the Treatment of Patients With Advanced Cancer — https://clinicaltrials.gov/study/NCT05969860
- **NCT02621021** [RECRUITING]: A Phase 2 Trial for Metastatic Melanoma Using Adoptive Cell Therapy With Tumor Infiltrating Lymphocytes Plus IL-2 Either Alone or Following the Administration of Pembrolizumab — https://clinicaltrials.gov/study/NCT02621021
- **NCT06066138** [RECRUITING]: A Study of Therapeutic Drug Monitoring-Based Atezolizumab Dosing — https://clinicaltrials.gov/study/NCT06066138
- **NCT06545682** [RECRUITING]: Phase Ib Study of AlpeliSib With PEmbroLizumab in Patients With mEtastatic Breast caNcer or melanomA (SELENA) — https://clinicaltrials.gov/study/NCT06545682
- **NCT06660420** [RECRUITING]: Phase 1 Dose Escalation and Expansion Study of PRAME T Cell Receptor (TCR) Engineered NK Cells in Participants With Recurrent and/or Refractory Melanoma (PRAMETIME-Mel) — https://clinicaltrials.gov/study/NCT06660420

## Doenças relacionadas (por similaridade fenotípica)

- [Melanoma uveal](https://raras.org/doenca/melanoma-uveal) — ORPHA:39044 — 18 sintomas em comum
- [Melanoma familiar](https://raras.org/doenca/melanoma-familiar) — ORPHA:618 — 12 sintomas em comum
- [Uveíte](https://raras.org/doenca/uveite) — ORPHA:98715 — 7 sintomas em comum
- [Complexo de Carney](https://raras.org/doenca/complexo-de-carney) — ORPHA:1359 — 5 sintomas em comum
- [Síndrome de microcefalia-linfedema-coriorretinopatia](https://raras.org/doenca/sindrome-de-microcefalia-linfedema-coriorretinopatia) — ORPHA:2526 — 5 sintomas em comum
- [Distrofia da córnea](https://raras.org/doenca/distrofia-da-cornea) — ORPHA:34533 — 5 sintomas em comum
- [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 5 sintomas em comum
- [Glaucoma neovascular](https://raras.org/doenca/glaucoma-neovascular) — ORPHA:94058 — 5 sintomas em comum
- [Síndrome neurológico paraneoplásico](https://raras.org/doenca/sindrome-neurologico-paraneoplasico) — ORPHA:36388 — 5 sintomas em comum
- [Albinismo oculocutâneo](https://raras.org/doenca/albinismo-oculocutaneo) — ORPHA:55 — 5 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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