Raras
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Melanoma primário do sistema nervoso central
ORPHA:252050CID-10 · C70.9CID-11 · 2A0ZDOENÇA RARA

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.

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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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.007
Worldwide
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C70.9
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Sinais e sintomas

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Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202139 papers
Linha do tempo
2026Hoje · 2026🧪 1993Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

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Nenhum gene associado encontrado

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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.
2Fase 24
1Fase 11
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

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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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Ensaios clínicos abertos e novidades científicas recentes

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Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Primary Central Nervous System Melanoma (pCNSM) and Treatment Protocols: A Literature Review.

American journal of clinical oncology2026 Mar 13

Primary central nervous system melanoma (pCNSM) is an exceptionally rare malignancy arising from melanocytes of neural crest origin, with an annual incidence of just 0.005 per 100,000 individuals. Due to its rarity and the heterogeneity in tumor biology, no standardized treatment protocol currently exists. Immunotherapy has emerged as a promising approach, though its role in pCNSM remains underinvestigated. We conducted an extensive literature review spanning 1980 to 2023, analyzing data from PubMed, Google Scholar, published case reports, and the Archives of the American Institute for Radiologic Pathology. A total of 138 articles covering 148 pCNSM cases were included-77 involving primary brain melanomas and 71 involving primary spinal melanomas. Surgical resection, either gross total or partial, was performed in 95% of cases and typically followed by radiotherapy. Only 2 cases of brain melanoma received immunotherapy. Treatment approaches were largely similar between brain and spinal melanomas; however, primary spinal melanoma (PSM) cases showed better outcomes. Our review suggests that a multimodal strategy involving surgical resection followed by adjuvant radiotherapy and, where applicable, immunotherapy may offer improved outcomes, especially in spinal cases. However, the limited use of immunotherapy in brain cases and the overall rarity of pCNSM highlight the need for further multicenter research to identify more effective and tailored treatment protocols.

#2

Glycoprotein Non-Metastatic Melanoma Protein B (GPNMB): A Translational Pharmacodynamic Biomarker for PIKfyve Inhibition With VRG50635.

Clinical and translational science2026 Feb

Glycoprotein non-metastatic melanoma protein B (GPNMB) was investigated as a pharmacodynamic (PD) biomarker for PIKfyve inhibition across translational studies ex vivo, in vitro, in animals, and in the clinic, demonstrating significant response to VRG50468 in cells, in vivo in the central nervous system (CNS) and in peripheral fluids and tissues. VRG50468 is the active metabolite of VRG50635, a small molecule PIKfyve inhibitor pro-drug in development for treating amyotrophic lateral sclerosis (ALS). Peripheral pharmacology was evaluated in peripheral blood mononuclear cells (PBMCs) from healthy volunteers ex vivo and in vitro and in PBMCs from mice given oral VRG50635. Central pharmacology was evaluated in vitro using C9orf72 ALS patient-derived induced pluripotent stem cell motor neurons and mouse primary neurons, and in vivo in brains of mice given oral VRG50635. Two clinical studies in healthy adults examined plasma, PBMCs, and cerebrospinal fluid following oral VRG50635 for peripheral and central pharmacologic activity via GPNMB induction. PD GPNMB upregulation with VRG50468 was demonstrated across preclinical translational and clinical studies. A PD response to VRG50468 was observed ex vivo in rodent and human PBMCs and in primary rodent neurons and motor neurons induced from stem cells of people with ALS. Repeated administration of VRG50635 to rodents and healthy human volunteers robustly induced GPNMB peripherally and in the CNS, which was concentration and time dependent in vitro and dose and treatment duration dependent in vivo, peripherally, and in CNS. GPNMB is a robust translatable PD biomarker for clinical trials with the PIKfyve inhibitor VRG50635. TRIAL REGISTRATION: Clinical trial number: VGCS-50635-001 and VGCS-50635-003; identifier: NL81735.056.22 and NCT06286475.

#3

Special Issue "Invasion and Metastasis in Brain Cancer".

International journal of molecular sciences2026 Feb 05

Brain tumors, whether primary gliomas or metastases from breast, lung, melanoma, or other systemic malignancies, share a unique biological feature: the ability to infiltrate brain parenchyma and adapt to the unique microenvironment of the central nervous system [...].

#4

Microsurgical resection of a primary mixed intramedullary-extramedullary thoracic meningeal melanoma.

Surgical neurology international2026

Primary meningeal melanoma is an exceedingly rare malignant neoplasm arising from leptomeningeal melanocytes, accounting for only 0.06-0.1% of all central nervous system tumors. These melanocytes, derived from neural crest cells, typically localize within the ventral leptomeninges of the spinal cord and brainstem. Lesions most often occur in the cervical or thoracic spine and may mimic meningioma, schwannoma, or metastasis. Due to its rarity and nonspecific imaging features, diagnosis relies on histopathologic and molecular confirmation following surgical resection. Complete excision with adjuvant radiation remains the mainstay of treatment, though long-term outcomes are poorly defined due to limited reports. We present a 61-year-old woman with a multi-segmental thoracic lesion spanning T8-T12 causing progressive genital and low-back pain, paraparesis, and sensory deficits. Magnetic resonance imaging revealed a contrast-enhancing intradural lesion with ventral extramedullary and intramedullary components. The patient underwent T7-T12 laminectomies for microsurgical resection with continuous neuromonitoring. Following dural opening, the tumor was identified in the ventrolateral extramedullary space with focal invasion into the spinal cord. Resection of the extramedullary component of the tumor was first undertaken until the tumor coursed into the intramedullary compartment. Sharp dissection and meticulous pial entry allowed circumferential mobilization and safe removal of the intramedullary portion while preserving the spinal vasculature. A gross total resection was achieved. The patient had a transient exacerbation of her right lower extremity weakness, which improved back to baseline within a few weeks from surgery. Histopathology revealed a densely cellular melanocytic tumor with focal necrosis and low proliferative index. Genetic testing identified a guanine nucleotide binding protein, alpha q (GNAQ) missense variant, confirming primary meningeal melanoma. With no systemic disease, adjuvant fractionated radiation was planned. The patient's recovery was stable, and she was discharged to rehabilitation on postoperative day 9. This case highlights the surgical nuances and diagnostic considerations involved in treating rare mixed intramedullary-extramedullary meningeal melanomas of the thoracic spine.

#5

Cancer diagnoses, referrals, and survival in people with a learning disability in the UK: a population-based, matched cohort study.

The Lancet regional health. Europe2026 Jan

People with a learning disability (LD, also known as intellectual disability) face poorer health outcomes, yet the burden of cancer in this population is poorly understood. This study investigated cancer-related outcomes in people with a LD compared to the general population. A matched cohort study was conducted using linked primary care, hospital, mortality, and cancer registry data from Clinical Practice Research Datalink (CPRD) Aurum. In total, 180,911 individuals with a LD were matched with 3,405,467 controls. Outcomes included urgent suspected cancer (USC) referrals, cancer diagnoses, treatment within six months, and overall survival (OS) post-diagnosis. Individuals with a LD had fewer USC referrals within 28 days of possible cancer symptoms (adjusted risk ratio [aRR] 0.52, 95% confidence interval [CI] 0.49-0.55). LD was associated with several cancers, including sarcoma (adjusted hazard ratio [aHR] 1.98, 1.65-2.39), central nervous system (aHR 3.42, 2.99-3.90), testicular (aHR 2.06, 1.61-2.62), and uterine cancers (aHR 1.69, 1.40-2.05) as well as cancer before age 50 years (aHR 1.74, 1.63-1.86). Absolute incidence was lower in individuals with a LD compared to without (3396 [1.9%] vs 67,506 [2.0%]) due to increased all-cause mortality (aHR 3.19, 3.12-3.27). LD was associated with fewer diagnoses via USC referrals (aRR 0.81, 0.76-0.86), fewer treatments within six months (aRR 0.83, 0.80-0.85) and shorter OS (median 4.4 years, 95% CI 3.9-5.1 vs 9.1 years, 8.8-9.5; aHR 1.73, 1.65-1.83). Melanoma, breast, and prostate cancers were less common but had up to a fourfold increased risk of death after diagnosis in individuals with a LD. Individuals with a LD have higher cancer risk, more diagnoses outside USC pathways, fewer treatments, and poorer prognosis. Fewer diagnoses of some cancers, alongside worse outcomes, may indicate under-investigation. As premature all-cause mortality improves, cancer burden in this population may rise disproportionately. NIHR Greater Manchester Patient Safety Research Collaboration (NIHR204295).

Publicações recentes

Ver todas no PubMed

📚 EuropePMC7 artigos no totalmostrando 196

2026

Contribution of molecular profiling in primary cervical intramedullary melanoma: case report and literature review.

Journal of neuroradiology = Journal de neuroradiologie
2026

Primary Central Nervous System Melanoma (pCNSM) and Treatment Protocols: A Literature Review.

American journal of clinical oncology
2026

Glycoprotein Non-Metastatic Melanoma Protein B (GPNMB): A Translational Pharmacodynamic Biomarker for PIKfyve Inhibition With VRG50635.

Clinical and translational science
2026

Vertebral hemangiosarcoma as a cause of spinal cord compression in a dog.

Brazilian journal of veterinary medicine
2026

Special Issue "Invasion and Metastasis in Brain Cancer".

International journal of molecular sciences
2026

Clinical outcomes of genomically guided trametinib monotherapy across cancer types: results from the IMPRESS-Norway trial.

Acta oncologica (Stockholm, Sweden)
2026

Microsurgical resection of a primary mixed intramedullary-extramedullary thoracic meningeal melanoma.

Surgical neurology international
2026

Pathophysiology and treatment of leptomeningeal metastases in lung cancer.

Translational lung cancer research
2026

18F-FDG PET/CT Findings in a Case of Primary Leptomeningeal Melanomatosis With Diastematomyelia.

Clinical nuclear medicine
2026

Phase I study of ABM-1310 as monotherapy and in combination with cobimetinib for BRAF-mutated advanced solid tumors: safety, efficacy, and dose expansion.

ESMO open
2025

Primary Intraventricular Amelanotic Melanoma: Case Report and Literature Review.

Cureus
2026

Cancer diagnoses, referrals, and survival in people with a learning disability in the UK: a population-based, matched cohort study.

The Lancet regional health. Europe
2025

Description of six cases of melanoma in 512 patients with germline pathogenic variants in the TP53 gene.

Familial cancer
2026

Impact of immunotherapy on outcomes of cutaneous melanoma and concurrent brain metastasis: a surveillance, epidemiology, and end results analysis of 2010-2020.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Aggressive Clinical Course and Malignant Transformation of a Meningeal Melanocytoma of the Pontomedullary Region: Diagnostic and Therapeutic Implications.

Journal of neurological surgery reports
2026

Reflecting on scientific growth and innovation as the Society for Neuro-Oncology turns 30.

Neuro-oncology
2025

Follicular Lymphoma of the Breast With Secondary Central Nervous System Transformation and Concurrent Metastatic Melanoma: Report of a Rare Case.

Cureus
2025

Primary Central Nervous System Melanoma Masquerading as Subarachnoid Hemorrhage: A Case Report.

Acta neurologica Taiwanica
2025

Established Cancer Predisposition Genes in Single and Multiple Cancer Diagnoses.

JAMA oncology
2025

Sudden death associated with primary leptomeningeal melanocytosis without features of neurocutaneous melanosis syndrome.

Journal of forensic and legal medicine
2025

Real-world experience outcome in patients with central nervous system metastases: information on 2,226 patients during a 15-year period.

Journal of neuro-oncology
2025

Meeting Report From the 2024 Symposium on IRAK4 in Cancer: Highlights and Clinical Updates.

Clinical lymphoma, myeloma &amp; leukemia
2025

Microsurgical resection of an intramedullary metastasis of rare histopathology-a case report and comprehensive literature review.

Journal of spine surgery (Hong Kong)
2025

Determine the Antimetastasis Effect of Artesunate in Lung Cancer-Driven Brain Metastasis Model.

Molecular carcinogenesis
2025

An AIM2 inflammasome biomimetic mineralization inhibitor for vascular dementia therapy.

Theranostics
2025

Primary Central Nervous System Melanoma with Bilateral Vestibular Lesions Mimicking Neurofibromatosis Type 2.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2025

Unlocking the Role of Metabolic Pathways in Brain Metastatic Disease.

Cells
2025

Glycoprotein nonmetastatic melanoma protein b immunohistochemistry can be a useful ancillary tool to diagnose subependymal giant cell astrocytoma.

Virchows Archiv : an international journal of pathology
2025

Multi-institutional atlas of brain metastases informs spatial modeling for precision imaging and personalized therapy.

Nature communications
2025

Society of Family Planning Clinical Recommendation: Contraceptive considerations for individuals with cancer and cancer survivors part 3 - Skin, blood, gastrointestinal, liver, lung, central nervous system, and other cancers: Joint with the Society of Gynecologic Oncology.

Contraception
2025

The therapeutic efficacy and application prospects of tumor-treating fields (TTFields) in resolving malignant tumors of central nervous system.

Clinical &amp; translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
2025

Intraocular Myxo-Papillary Ependymoma versus Retinal Gliosis Mimicking Uveal Melanoma: Report of 2 Adult Patients with Clinical, Imaging, and Histopathologic Features.

Ocular oncology and pathology
2025

AIM2 exacerbates hypoxic-ischemic brain damage in neonatal rats via promoting neuronal pyroptosis.

Brain research bulletin
2025

Molecular Underpinnings of Brain Metastases.

International journal of molecular sciences
2025

Malignant Meningiomas: From Diagnostics to Treatment.

Diagnostics (Basel, Switzerland)
2025

Cancer brain metastasis: molecular mechanisms and therapeutic strategies.

Molecular biomedicine
2025

Primary intracranial malignant melanoma in an adolescent: case report and literature review.

Frontiers in surgery
2025

Revealing shared molecular drivers of brain metastases from distinct primary tumors.

Brain research
2025

Early Outcomes from Proton Craniospinal Irradiation for Leptomeningeal Metastasis From Solid Tumors.

Advances in radiation oncology
2025

Clinical Features and Risks of Congenital Melanocytic Naevi: A Retrospective Analysis of Patients at the Queensland Children's Hospital.

The Australasian journal of dermatology
2025

Differential diagnosis in immune checkpoint inhibitors neurotoxicity.

Journal of neurology
2025

Breaking boundaries: role of the brain barriers in metastatic process.

Fluids and barriers of the CNS
2024

Triple combination of vemurafenib, cobimetinib, and atezolizumab in real clinical practice in the Russian Federation: results of the A1 cohort of the ISABELLA study.

Frontiers in oncology
2024

Congenital melanocytic nevus syndrome: An association between congenital melanocytic nevi and neurological abnormalities.

Seminars in pediatric neurology
2025

Congenital melanocytic nevi and risk of melanoma.

Clinics in dermatology
2024

A 13-Year-Old Girl Affected by Melanocytic Tumors of the Central Nervous System-The Case.

International journal of molecular sciences
2024

Primary Malignant Meningeal Melanoma Complicated by Cerebral Venous Sinus Thrombosis: An Illustrative Case With a Systematic Review of the Literature.

Cureus
2024

Synchronous Anal Squamous Cell Carcinoma and Diffuse Large B Cell Lymphoma of Stomach: the First Report of an Odd Couple.

Indian journal of surgical oncology
2024

Racial Disparities in Cancer Stage at Diagnosis and Survival for Adolescents and Young Adults.

JAMA network open
2025

cIMPACT-NOW update 8: Clarifications on molecular risk parameters and recommendations for WHO grading of meningiomas.

Neuro-oncology
2024

Primary CNS Melanoma of Meckel's Cave: A Rare Case with Literature Review.

Asian journal of neurosurgery
2024

Primary Spinal Malignant Melanoma Mimicking a Cervical Nerve Root Schwannoma: Case Report and Literature Review.

Asian journal of neurosurgery
2024

Inhibition of AIM2 expression enhance treatment effect of osimertinib in treatment of glioma.

Folia neuropathologica
2024

Health disparities in ocular oncology.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2024

Primary Meningeal Melanocytic Tumors of the Central Nervous System: A Review from the Ultra-Rare Brain Tumors Task Force of the European Network for Rare Cancers (EURACAN).

Cancers
2024

Predictive and Prognostic Factors in Melanoma Central Nervous System Metastases-A Cohort Study.

Cancers
2024

Malignant melanoma presenting as isolated thoracic spinal metastases- Case report.

International journal of surgery case reports
2024

Noninvasive therapy of brain cancer using a unique systemic delivery methodology with a cancer terminator virus.

Journal of cellular physiology
2024

Intracranial meningeal melanocytoma: a case report and literature review.

Journal of surgical case reports
2024

Unveiling the hidden role of extracellular vesicles in brain metastases: a comprehensive review.

Frontiers in immunology
2024

pHusion - a robust and versatile toolset for automated detection and analysis of exocytosis.

Journal of cell science
2024

Integration analysis of single-cell transcriptome reveals specific monocyte subsets associated with melanoma brain and leptomeningeal metastasis.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
2023

Characteristics of long-survivor metastatic melanoma after polychemotherapy and interferon: a retrospective study.

Swiss medical weekly
2024

Induction of SK-MEL-28 Invasion by Brain Cortical Cell-Conditioned Medium Through CXCL10 Signaling.

Journal of interferon &amp; cytokine research : the official journal of the International Society for Interferon and Cytokine Research
2024

Extradural spinal melanoma: is it primary or metastatic? A case report with a brief review of literature.

Diagnostic pathology
2024

Imaging of Adult Malignant Soft Tissue Tumors of the Spinal Canal: A Guide for Spine Surgeons.

World neurosurgery
2024

A case report and literature review on primary intracranial malignant melanoma: Challenges and insights.

International journal of surgery case reports
2024

Risk of fractures in half a million survivors of 20 cancers: a population-based matched cohort study using linked English electronic health records.

The lancet. Healthy longevity
2024

Dabrafenib and trametinib administration in patients with BRAF V600E/R or non-V600 BRAF mutated advanced solid tumours (BELIEVE, NCCH1901): a multicentre, open-label, and single-arm phase II trial.

EClinicalMedicine
2024

Unusual case of intraosseous primary intracranial malignant melanoma.

BMJ case reports
2023

Thirty-two-year trends of cancer incidence by sex and cancer site in the Veneto Region from 1987 to 2019.

Frontiers in public health
2024

Primary Diffuse Leptomeningeal Melanomatosis in an Indian Child With Review of Literature.

Pediatric neurology
2024

Survival Benefit of Stereotactic Radiotherapy in the Complex Management of Metastatic Melanoma.

Anticancer research
2024

Non-invasive Fluorescence Imaging of Breast Cancer Metastasis to the Brain in an Orthotopic Nude-mouse Model With Very-narrow-band-width Laser Excitation of Red Fluorescent Protein Resulting in an Ultra-bright Signal Without Skin Autofluorescence.

In vivo (Athens, Greece)
2024

Nivolumab and ipilimumab population pharmacokinetics in support of pediatric dose recommendations-Going beyond the body-size effect.

CPT: pharmacometrics &amp; systems pharmacology
2023

Primary malignant melanoma, an atypical presentation in the cervical spine: a case report.

Journal of medical case reports
2023

Malignant Transformation and Leptomeningeal Melanomatosis in a Primary Meningeal Melanocytoma: A Case Report and Review of Literature.

NMC case report journal
2024

Effectiveness, safety and utilization of cobimetinib and vemurafenib in patients with BRAF V600 mutant melanoma with and without cerebral metastasis under real-world conditions in Germany: the non-interventional study coveNIS.

Melanoma research
2023

Neuroanatomical location of brain metastases from solid tumours based on pathology: An analysis of 511 patients with a comparison to the provided clinical history.

PloS one
2024

Associations between BMI in youth and site-specific cancer in men-A cohort study with register linkage.

Obesity (Silver Spring, Md.)
2023

Adenosine Deaminase Acting on RNA (ADAR) Enzymes: A Journey from Weird to Wondrous.

Accounts of chemical research
2024

Clinicopathological features, current status, and progress of primary central nervous system melanoma diagnosis and treatment.

Pigment cell &amp; melanoma research
2023

Impact of multimorbidity and polypharmacy on mortality after cancer: a nationwide registry-based cohort study in Denmark 2005-2017.

Acta oncologica (Stockholm, Sweden)
2023

Melanoma Originating from the Dura-Mater: A Case Report and Review of the Literature.

Current health sciences journal
2023

A Rare Case of Primary Intracerebral Malignant Melanoma.

Cureus
2023

New Cancer Diagnoses Before and During the COVID-19 Pandemic.

JAMA network open
2023

Atypical primary malignant melanoma originating in the spinal canal: A case report and literature review.

Oncology letters
2023

Second Cancer Affecting the Central Nervous System: Systematic Literature Review Exploring the Link Between Malignant Melanoma and Glioblastoma.

World neurosurgery
2023

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.

JAMA network open
2023

ATM-Inhibitor AZD1390 Is a Radiosensitizer for Breast Cancer CNS Metastasis.

Clinical cancer research : an official journal of the American Association for Cancer Research
2023

Leptomeningeal Metastasis: A Review of the Pathophysiology, Diagnostic Methodology, and Therapeutic Landscape.

Current oncology (Toronto, Ont.)
2023

Low-Dose Radiosurgery for Brain Metastases in the Era of Modern Systemic Therapy.

Neurosurgery
2023

5‑aminiolevulinic acid induces a radiodynamic effect with enhanced delayed reactive oxygen species production under hypoxic conditions in lymphoma cells: An in vitro study.

Experimental and therapeutic medicine
2023

Diagnostic challenge: primary leptomeningeal melanoma with melanomatosis, illustrative case report.

Journal of surgical case reports
2023

Pre-treatment of rapamycin transformed M2 microglia alleviates traumatic cervical spinal cord injury via AIM2 signaling pathway in vitro and in vivo.

International immunopharmacology
2023

A phase 1, first-in-child, multicenter study to evaluate the safety and efficacy of the oncolytic herpes virus talimogene laherparepvec in pediatric patients with advanced solid tumors.

Frontiers in pediatrics
2023

Real world evidence of Lenvatinib + anti PD-1 as an advanced line for metastatic melanoma.

Frontiers in oncology
2023

Gene-edited and -engineered stem cell platform drives immunotherapy for brain metastatic melanomas.

Science translational medicine
2023

Amanita muscaria extract potentiates production of proinflammatory cytokines by dsRNA-activated human microglia.

Frontiers in pharmacology
2023

Brainstem Metastases Treated with Stereotactic Radiosurgery: Masked versus Framed Immobilization.

World neurosurgery
2023

Primary breast B-cell non-Hodgkin’s lymphoma of the breast. Case Report and review of the literature.

Revista colombiana de obstetricia y ginecologia
2023

Metastatic Melanoma: A Preclinical Model Standardization and Development of a Chitosan-Coated Nanoemulsion Containing Temozolomide to Treat Brain Metastasis.

Cellular and molecular neurobiology
2023

Occurrence of non-central nervous system cancers during postoperative follow-up of patients who underwent surgery for a WHO grade II glioma: implications for therapeutic management.

Journal of neuro-oncology
2023

Epidemiology, management, and treatment outcomes of metastatic spinal melanoma.

World neurosurgery: X
2023

Temporary treatment cessation versus continuation of first-line tyrosine kinase inhibitor in patients with advanced clear cell renal cell carcinoma (STAR): an open-label, non-inferiority, randomised, controlled, phase 2/3 trial.

The Lancet. Oncology
2023

The deficiency of Maged1 attenuates Parkinson's disease progression in mice.

Molecular brain
2023

Molecular Biology of Brain Metastases.

Brain tumor research and treatment
2023

Oral IRAK-4 Inhibitor CA-4948 Is Blood-Brain Barrier Penetrant and Has Single-Agent Activity against CNS Lymphoma and Melanoma Brain Metastases.

Clinical cancer research : an official journal of the American Association for Cancer Research
2022

Primary leptomeningeal melanoma in association with neurocutaneous melanosis: A case report.

Surgical neurology international
2022

A phase III, multicenter, randomized controlled trial of preoperative versus postoperative stereotactic radiosurgery for patients with surgically resectable brain metastases.

BMC cancer
2023

Oncogenic BRAFV600E induces microglial proliferation through extracellular signal-regulated kinase and neuronal death through c-Jun N-terminal kinase.

Neural regeneration research
2022

Immunophenotyping of Circulating and Intratumoral Myeloid and T Cells in Glioblastoma Patients.

Cancers
2022

Dataset of a retrospective multicenter cohort study on characteristics of immune checkpoint inhibitor-induced encephalitis and comparison with HSV-1 and anti-LGI1 encephalitis.

Data in brief
2022

Meningeal Melanomatosis with a Spinal Meningeal Melanocytoma Trigger by an in vitro Fertilization.

Neurology India
2023

Mutational Status and Clinical Outcomes Following Systemic Therapy with or without Focal Radiation for Resected Melanoma Brain Metastases.

World neurosurgery
2022

Paediatric Strategy Forum for medicinal product development in mitogen-activated protein kinase pathway inhibitors: ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration.

European journal of cancer (Oxford, England : 1990)
2022

Primary Malignant Brain Tumors following Systemic Malignancies: A Population-Based Analysis.

Neuroepidemiology
2022

CNS Tumors - clinical and radiological aspects.

Ceskoslovenska patologie
2022

Rubella Virus Triggers Type I Interferon Antiviral Response in Cultured Human Neural Cells: Involvement in the Control of Viral Gene Expression and Infectious Progeny Production.

International journal of molecular sciences
2021

Primary spinal melanoma: illustrative case.

Journal of neurosurgery. Case lessons
2021

Primary meningeal melanoma masquerading as neurofibromatosis type 2: illustrative case.

Journal of neurosurgery. Case lessons
2022

Urothelial Carcinoma of the Bladder With Primary Metastasis to the Brain: A Case Report and Literature Review.

Cureus
2022

Risk and tropism of central nervous system (CNS) metastases in patients with stage II and III cutaneous melanoma.

Cancer
2022

MCP-1/CCR2 axis inhibition sensitizes the brain microenvironment against melanoma brain metastasis progression.

JCI insight
2022

Atezolizumab, vemurafenib, and cobimetinib in patients with melanoma with CNS metastases (TRICOTEL): a multicentre, open-label, single-arm, phase 2 study.

The Lancet. Oncology
2022

Melanoma central nervous system metastases: An update to approaches, challenges, and opportunities.

Pigment cell &amp; melanoma research
2022

Liquid Biopsy with Detection of NRASQ61K Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma.

Diagnostics (Basel, Switzerland)
2022

Primary Intracranial Brainstem Malignant Melanoma: A Technical Case Report.

Operative neurosurgery (Hagerstown, Md.)
2022

Prevalence and Clinicopathologic Features of Canine Metastatic Melanoma Involving the Central Nervous System: A Retrospective Analysis and Comparative Review.

Frontiers in oncology
2022

Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.

Computational and structural biotechnology journal
2022

Implications of immune cells in oncolytic herpes simplex virotherapy for glioma.

Brain tumor pathology
2022

Phase I study of trametinib in combination with whole brain radiation therapy for brain metastases.

Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology
2022

Melanocytic lesions of the central nervous system: a case series.

Arquivos de neuro-psiquiatria
2022

Histopathological Analysis of Central Nervous System Metastases: Six Years of Data From a Tertiary Center.

Cureus
2022

Malignant Melanoma of the Brainstem: A Unicorn Not a Popcorn.

Neurology India
2022

Diagnostic challenges of primary diffuse leptomeningeal melanomatosis in early adolescence: A case report.

Brain &amp; development
2022

SEOM-GEINO clinical guideline of systemic therapy and management of brain central nervous system metastases (2021).

Clinical &amp; translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
2022

The systemic management of central nervous system metastases and leptomeningeal disease from advanced lung, melanoma, and breast cancer with molecular drivers: An Australian perspective.

Asia-Pacific journal of clinical oncology
2022

[Primary diffuse meningeal melanomatosis: a literature review and a case report].

Arkhiv patologii
2022

Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe.

Cancers
2022

Orthostatic tremor secondary to primary malignant melanoma of the spinal cord: A case report.

European journal of neurology
2022

An atypical primary malignant melanoma arising from the cervical nerve root: A case report and review of literture.

World journal of clinical cases
2022

A case report of a patient with inoperable primary diffuse leptomeningeal melanomatosis treated with whole-brain radiotherapy and pembrolizumab.

Medicine
2021

Analysis of Demographics and Outcomes of Surgical Resection in the Central Nervous System of Patients With Metastatic Melanoma.

World journal of oncology
2021

Clinical, Pathologic, and Radiologic Features of Orbital Solitary Fibrous Tumors and Meningiomas.

Cureus
2021

Primary malignant melanoma of the cerebellopontine angle: A rare entity.

Indian journal of cancer
2021

Immunotherapy for Neuro-oncology.

Advances in experimental medicine and biology
2021

Leptomeningeal disease and brain control after postoperative stereotactic radiosurgery with or without immunotherapy for resected brain metastases.

Journal for immunotherapy of cancer
2021

Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma.

eLife
2021

Immunotherapy in Medulloblastoma: Current State of Research, Challenges, and Future Perspectives.

Cancers
2022

Leptomeningeal dissemination as a first sign of progression in metastatic melanoma: a diagnostic lesson.

Melanoma research
2022

The presentation of brain metastases in melanoma, non-small cell lung cancer, and breast cancer and potential implications for screening brain MRIs.

Breast cancer research and treatment
2021

Primary Melanocytomas of the Spinal Cord: Case Studies and Rehabilitation Perspectives.

Archives of rehabilitation research and clinical translation
2021

Risk of thyroid as a first or second primary cancer. A population-based study in Italy, 1998-2012.

Cancer medicine
2021

Primary sellar melanocytoma.

Pituitary
2021

The molecular feature of macrophages in tumor immune microenvironment of glioma patients.

Computational and structural biotechnology journal
2021

Primary Intramedullary Spinal Melanoma: A Rare Disease of the Spinal Cord.

Cureus
2021

Gamma-Aminobutyric Acid (GABA) Inhibits α-Melanocyte-Stimulating Hormone-Induced Melanogenesis through GABAA and GABAB Receptors.

International journal of molecular sciences
2021

Melanoma of the central nervous system: A report of three cases.

Indian journal of pathology &amp; microbiology
2022

Amelanotic melanocytoma of the cervicomedullary junction.

Clinical neuropathology
2021

Nonsyndromic Primary Diffuse Leptomeningeal Melanomatosis in a Child.

Iranian journal of child neurology
2022

Use of predictive spatial modeling to reveal that primary cancers have distinct central nervous system topography patterns of brain metastasis.

Journal of neurosurgery
2021

Primary central nervous system lymphomas with massive intratumoral hemorrhage: Clinical, radiological, pathological, and molecular features of six cases.

Neuropathology : official journal of the Japanese Society of Neuropathology
2021

The blood-tumour barrier in cancer biology and therapy.

Nature reviews. Clinical oncology
2021

Intracranial response after extracranial radiation in a patient with rapidly progressing metastatic melanoma.

BMJ case reports
2021

Intradural Extramedullary Primary Central Nervous System Melanoma of the Craniovertebral Junction during Pregnancy: Observations and Outcomes.

Surgical neurology international
2021

Immunotherapy for Glioblastoma: Current Progress and Challenges.

Frontiers in immunology
2021

Primary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin.

BMJ case reports
2021

Linking Parkinson's Disease and Melanoma: Interplay Between α-Synuclein and Pmel17 Amyloid Formation.

Movement disorders : official journal of the Movement Disorder Society
2021

Novel Insights into Diagnosis, Biology and Treatment of Primary Diffuse Leptomeningeal Melanomatosis.

Journal of personalized medicine
2021

Clinical outcome of patients with metastatic melanoma of unknown primary in the era of novel therapy.

Cancer immunology, immunotherapy : CII
2021

Primary Brain Melanoma in a Pediatric Patient: A Case Report.

The American journal of case reports
2021

Primary Spinal Melanoma With Intra- and Extradural Extensions: A Rare Case.

Cureus
2021

Ultrastructural and clinical features of central nervous system melanoma:Analysis of nine cases.

Ultrastructural pathology
2021

A 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 pharmacology
2021

Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors.

British journal of cancer
2021

Brain metastasis in a patient with multiple malignancies.

JAAPA : official journal of the American Academy of Physician Assistants
2021

Fatal GNAQ-mutated CNS melanoma in an adolescent with nevus of Ota.

Pediatric dermatology
2021

Neurological Death After Radiotherapy for Brain Metastases: Role of the LabBM Score.

Anticancer research
2021

Differences in Genomic Alterations Between Brain Metastases and Primary Tumors.

Neurosurgery
2023

Definitive radiotherapy for meningeal brainstem melanocytoma: a case report.

British journal of neurosurgery
2020

Primary leptomeningeal melanomatosis successfully treated with PD-1 inhibitor pembrolizumab: A case report.

Medicine
2020

The Molecular and Microenvironmental Landscape of Glioblastomas: Implications for the Novel Treatment Choices.

Frontiers in neuroscience
2021

Diagnosis of meningeal melanomatosis in a dog using magnetic resonance imaging and cerebrospinal fluid findings.

The Journal of veterinary medical science
2020

Malignant Melanoma Metastasis to Sigmoid Colon: New Endoscopic Appearance Detected for the First Time.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2020

An Uncommon Case of Primary Leptomeningeal Melanoma in a 66-Year-Old White Caucasian Male.

Cureus
2020

PD-1 inhibitors might limit the development of brain metastases in patients with advanced melanoma.

Melanoma research
2020

Primary intramedullary malignant melanoma: can imaging lead to the correct diagnosis?

The Journal of international medical research
2020

The primary sites leading to brain metastases: Shifting trends at a tertiary care center.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2020

Identification of a Novel BRCA1 Alteration in Recurrent Melanocytoma Resulting in Increased Proliferation.

Journal of neuropathology and experimental neurology
2020

Ipilimumab: an investigational immunotherapy for glioblastoma.

Expert opinion on investigational drugs
2020

Pathological Features of Brain Metastases.

Neurosurgery clinics of North America
2020

Dual inhibition of BRAF and mTOR in BRAFV600E -mutant pediatric, adolescent, and young adult brain tumors.

Cold Spring Harbor molecular case studies
2020

Immunotherapy for Glioblastoma: Current State, Challenges, and Future Perspectives.

Cancers
2020

An uncommon intramedullary tumor: Primary medullary cone melanoma.

Surgical neurology international
2020

Combined microscope and endoscopy total resection of primary pineal malignant melanoma: case report and literature review.

Journal of cancer research and clinical oncology

Associações

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Primary Central Nervous System Melanoma (pCNSM) and Treatment Protocols: A Literature Review.
    American journal of clinical oncology· 2026· PMID 41844168mais citado
  2. Glycoprotein Non-Metastatic Melanoma Protein B (GPNMB): A Translational Pharmacodynamic Biomarker for PIKfyve Inhibition With VRG50635.
    Clinical and translational science· 2026· PMID 41708347mais citado
  3. Special Issue "Invasion and Metastasis in Brain Cancer".
    International journal of molecular sciences· 2026· PMID 41683974mais citado
  4. Microsurgical resection of a primary mixed intramedullary-extramedullary thoracic meningeal melanoma.
    Surgical neurology international· 2026· PMID 41660310mais citado
  5. Cancer diagnoses, referrals, and survival in people with a learning disability in the UK: a population-based, matched cohort study.
    The Lancet regional health. Europe· 2026· PMID 41497315mais citado
  6. Sudden death associated with primary leptomeningeal melanocytosis without features of neurocutaneous melanosis syndrome.
    J Forensic Leg Med· 2025· PMID 40850286recente
  7. Determine the Antimetastasis Effect of Artesunate in Lung Cancer-Driven Brain Metastasis Model.
    Mol Carcinog· 2025· PMID 40618417recente
  8. An AIM2 inflammasome biomimetic mineralization inhibitor for vascular dementia therapy.
    Theranostics· 2025· PMID 40521199recente
  9. Unlocking the Role of Metabolic Pathways in Brain Metastatic Disease.
    Cells· 2025· PMID 40422210recente
  10. Multi-institutional atlas of brain metastases informs spatial modeling for precision imaging and personalized therapy.
    Nat Commun· 2025· PMID 40374598recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:252050(Orphanet)
  2. MONDO:0016747(MONDO)
  3. GARD:12016(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Melanoma primário do sistema nervoso central
Compêndio · Raras BR

Melanoma primário do sistema nervoso central

ORPHA:252050 · MONDO:0016747
Prevalência
<1 / 1 000 000
CID-10
C70.9 · Neoplasia maligna da meninge, não especificada
CID-11
Início
Adult
Prevalência
0.007 (Worldwide)
MedGen
UMLS
C0349626
Repurposing
9 candidatos
binimetinibMEK inhibitor
cobimetinibRAF inhibitor
dabrafenibDNA alkylating agent
+6 outros
EuropePMC
Wikidata
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