O linfoma primário do Sistema Nervoso Central (LPSNC) é uma forma rara de linfoma não Hodgkin extranodal que está tipicamente confinado ao cérebro, olhos e líquido cefalorraquidiano sem evidência de disseminação sistémica. O prognóstico dos doentes com LPSNC melhorou durante as últimas décadas com a introdução de metotrexato em doses elevadas como terapia. No entanto, apesar dos progressos recentes, os resultados após o tratamento são duradouros apenas em metade dos doentes e a terapêutica pode estar associada a neurotoxicidade tardia. O LPSNC é um tumor pouco frequente e, até à data, apenas foram concluídos quatro ensaios aleatorizados e um ensaio de fase III, todos na primeira linha.
Introdução
O que você precisa saber de cara
Melanoma primário do SNC é um tumor maligno raro originado nas células melanocíticas do cérebro ou medula espinhal. Geralmente se apresenta com sintomas neurológicos progressivos, como dores de cabeça, convulsões ou déficits focais.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Melanoma primário do sistema nervoso central
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BMJ case reportsIntradural Extramedullary Primary Central Nervous System Melanoma of the Craniovertebral Junction during Pregnancy: Observations and Outcomes.
Surgical neurology internationalImmunotherapy for Glioblastoma: Current Progress and Challenges.
Frontiers in immunologyPrimary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin.
BMJ case reportsLinking Parkinson's Disease and Melanoma: Interplay Between α-Synuclein and Pmel17 Amyloid Formation.
Movement disorders : official journal of the Movement Disorder SocietyNovel Insights into Diagnosis, Biology and Treatment of Primary Diffuse Leptomeningeal Melanomatosis.
Journal of personalized medicineClinical outcome of patients with metastatic melanoma of unknown primary in the era of novel therapy.
Cancer immunology, immunotherapy : CIIPrimary Brain Melanoma in a Pediatric Patient: A Case Report.
The American journal of case reportsPrimary Spinal Melanoma With Intra- and Extradural Extensions: A Rare Case.
CureusUltrastructural and clinical features of central nervous system melanoma:Analysis of nine cases.
Ultrastructural pathologyA phase 1 trial of the histone deacetylase inhibitor AR-42 in patients with neurofibromatosis type 2-associated tumors and advanced solid malignancies.
Cancer chemotherapy and pharmacologyLong-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors.
British journal of cancerBrain metastasis in a patient with multiple malignancies.
JAAPA : official journal of the American Academy of Physician AssistantsFatal GNAQ-mutated CNS melanoma in an adolescent with nevus of Ota.
Pediatric dermatologyNeurological Death After Radiotherapy for Brain Metastases: Role of the LabBM Score.
Anticancer researchDifferences in Genomic Alterations Between Brain Metastases and Primary Tumors.
NeurosurgeryDefinitive radiotherapy for meningeal brainstem melanocytoma: a case report.
British journal of neurosurgeryPrimary leptomeningeal melanomatosis successfully treated with PD-1 inhibitor pembrolizumab: A case report.
MedicineThe Molecular and Microenvironmental Landscape of Glioblastomas: Implications for the Novel Treatment Choices.
Frontiers in neuroscienceDiagnosis of meningeal melanomatosis in a dog using magnetic resonance imaging and cerebrospinal fluid findings.
The Journal of veterinary medical scienceMalignant Melanoma Metastasis to Sigmoid Colon: New Endoscopic Appearance Detected for the First Time.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPAn Uncommon Case of Primary Leptomeningeal Melanoma in a 66-Year-Old White Caucasian Male.
CureusPD-1 inhibitors might limit the development of brain metastases in patients with advanced melanoma.
Melanoma researchPrimary intramedullary malignant melanoma: can imaging lead to the correct diagnosis?
The Journal of international medical researchThe primary sites leading to brain metastases: Shifting trends at a tertiary care center.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaIdentification of a Novel BRCA1 Alteration in Recurrent Melanocytoma Resulting in Increased Proliferation.
Journal of neuropathology and experimental neurologyIpilimumab: an investigational immunotherapy for glioblastoma.
Expert opinion on investigational drugsPathological Features of Brain Metastases.
Neurosurgery clinics of North AmericaDual inhibition of BRAF and mTOR in BRAFV600E -mutant pediatric, adolescent, and young adult brain tumors.
Cold Spring Harbor molecular case studiesImmunotherapy for Glioblastoma: Current State, Challenges, and Future Perspectives.
CancersAn uncommon intramedullary tumor: Primary medullary cone melanoma.
Surgical neurology internationalCombined microscope and endoscopy total resection of primary pineal malignant melanoma: case report and literature review.
Journal of cancer research and clinical oncologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Melanoma primário do sistema nervoso central.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Primary Central Nervous System Melanoma (pCNSM) and Treatment Protocols: A Literature Review.
- Glycoprotein Non-Metastatic Melanoma Protein B (GPNMB): A Translational Pharmacodynamic Biomarker for PIKfyve Inhibition With VRG50635.
- Special Issue "Invasion and Metastasis in Brain Cancer".
- Microsurgical resection of a primary mixed intramedullary-extramedullary thoracic meningeal melanoma.
- Cancer diagnoses, referrals, and survival in people with a learning disability in the UK: a population-based, matched cohort study.
- Sudden death associated with primary leptomeningeal melanocytosis without features of neurocutaneous melanosis syndrome.
- Determine the Antimetastasis Effect of Artesunate in Lung Cancer-Driven Brain Metastasis Model.
- An AIM2 inflammasome biomimetic mineralization inhibitor for vascular dementia therapy.
- Unlocking the Role of Metabolic Pathways in Brain Metastatic Disease.
- Multi-institutional atlas of brain metastases informs spatial modeling for precision imaging and personalized therapy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:252050(Orphanet)
- MONDO:0016747(MONDO)
- GARD:12016(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55786401(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
