# Carcinoma medular renal

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

## Identificadores

- **ORPHA**: 319319 — https://www.orpha.net/en/disease/detail/319319
- **CID-10**: C64
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

É um tipo de câncer de rim que afeta principalmente jovens afro-americanos. Ele se localiza na parte central do rim e tem um comportamento muito agressivo. Na maioria dos casos relatados, a doença já havia se espalhado para outras partes do corpo no momento do diagnóstico.

## Epidemiologia e herança

- **Prevalência**: <1 / 1 000 000

## Sinais e sintomas (17 fenótipos HPO)

- **Nistagmo congênito** — HPO: HP:0006934
- **Hipoplasia da fóvea** — HPO: HP:0007750
- **Anomalia "morning glory"** — HPO: HP:0025514
- **Subluxação de lente** — HPO: HP:0001132
- **Cataratas pré-senis** — HPO: HP:0007819
- **Coloboma da íris** — HPO: HP:0000612
- **Remanescentes do sistema vascular hialoide** — HPO: HP:0007968
- **Glaucoma** — HPO: HP:0000501
- **Aplasia do nervo óptico** — HPO: HP:0012521
- **Aniridia** — HPO: HP:0000526
- **Ambliopia** — HPO: HP:0000646
- **Acuidade visual reduzida** — HPO: HP:0007663
- **Atrofia óptica** — HPO: HP:0000648
- **Nistagmo** — HPO: HP:0000639
- **Catarata** — HPO: HP:0000518
- **Hipoplasia do nervo óptico** — HPO: HP:0000609
- **Deficiência visual** — HPO: HP:0000505

## Genes associados (3)

- **ELP4** — Elongator complex protein 4 [Disease-causing germline mutation(s) in]
  - Função: Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-c
- **PAX6** — Paired box protein Pax-6 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity)
- **TRIM44** — Tripartite motif-containing protein 44 [Disease-causing germline mutation(s) in]
  - Função: May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807)

## Ensaios clínicos ativos (11)

- **NCT03866382** [RECRUITING]: Testing the Effectiveness of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) With One Anti-cancer Targeted Drug (Cabozantinib) for Rare Genitourinary Tumors — https://clinicaltrials.gov/study/NCT03866382
- **NCT06161532** [RECRUITING]: Sacituzumab Govitecan With or Without Atezolizumab Immunotherapy in Rare Genitourinary Tumors (SMART) Such as High Grade Neuroendocrine Carcinomas, Adenocarcinoma, and Squamous Cell Bladder/Urinary Tract Cancer, Renal Medullary Carcinoma and Penile C... — https://clinicaltrials.gov/study/NCT06161532
- **NCT06302569** [RECRUITING]: Pembrolizumab Plus Enfortumab Vedotin in Collecting Duct and Renal Medullary Carcinoma — https://clinicaltrials.gov/study/NCT06302569
- **NCT05347212** [ACTIVE_NOT_RECRUITING]: Phase II Trial of Immunotherapy in Patients With Carcinomas Arising From the Renal Medulla — https://clinicaltrials.gov/study/NCT05347212
- **NCT05286801** [ACTIVE_NOT_RECRUITING]: Tiragolumab and Atezolizumab for the Treatment of Relapsed or Refractory SMARCB1 or SMARCA4 Deficient Tumors — https://clinicaltrials.gov/study/NCT05286801
- **NCT02496208** [ACTIVE_NOT_RECRUITING]: Cabozantinib S-malate and Nivolumab With or Without Ipilimumab in Treating Patients With Metastatic Genitourinary Tumors — https://clinicaltrials.gov/study/NCT02496208
- **NCT04071223** [ACTIVE_NOT_RECRUITING]: Testing the Addition of a New Anti-cancer Drug, Radium-223 Dichloride, to the Usual Treatment (Cabozantinib) for Advanced Renal Cell Cancer That Has Spread to the Bone, RadiCaL Study — https://clinicaltrials.gov/study/NCT04071223
- **NCT02721732** [ACTIVE_NOT_RECRUITING]: Pembrolizumab in Treating Patients With Rare Tumors That Cannot Be Removed by Surgery or Are Metastatic — https://clinicaltrials.gov/study/NCT02721732
- **NCT03587662** [ACTIVE_NOT_RECRUITING]: Ixazomib, Gemcitabine, and Doxorubicin in Treating Patients With Locally Advanced or Metastatic Kidney Cancer — https://clinicaltrials.gov/study/NCT03587662
- **NCT00898365** [ACTIVE_NOT_RECRUITING]: Study of Kidney Tumors in Younger Patients — https://clinicaltrials.gov/study/NCT00898365

## Doenças relacionadas (por similaridade fenotípica)

- [Carcinoma de células renais](https://raras.org/doenca/carcinoma-de-celulas-renais) — ORPHA:217071 — 17 sintomas em comum
- [Aniridia isolada](https://raras.org/doenca/aniridia-isolada) — ORPHA:250923 — 11 sintomas em comum
- [Distrofia da córnea](https://raras.org/doenca/distrofia-da-cornea) — ORPHA:34533 — 10 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 9 sintomas em comum
- [Microftalmia isolada-anoftalmia-coloboma](https://raras.org/doenca/microftalmia-isolada-anoftalmia-coloboma) — ORPHA:2542 — 9 sintomas em comum
- [Vitreorretinopatia exsudativa familiar](https://raras.org/doenca/vitreorretinopatia-exsudativa-familiar) — ORPHA:891 — 8 sintomas em comum
- [Síndrome de anomalias congênitas múltiplas-transtorno do neurodesenvolvimento-anomalias oculares](https://raras.org/doenca/sindrome-de-anomalias-congenitas-multiplas-transtorno-do-neurodesenvolvimento-anomalias-oculares) — ORPHA:659904 — 7 sintomas em comum
- [Síndrome de Hermansky-Pudlak](https://raras.org/doenca/sindrome-de-hermansky-pudlak) — ORPHA:79430 — 7 sintomas em comum
- [Hipoplasia isolada do nervo óptico](https://raras.org/doenca/hipoplasia-isolada-do-nervo-optico) — ORPHA:637061 — 7 sintomas em comum
- [Microftalmia colobomatosa](https://raras.org/doenca/microftalmia-colobomatosa) — ORPHA:98938 — 7 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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