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Primary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin
- Source :
- BMJ Case Rep
- Publication Year :
- 2023
-
Abstract
- Primary leptomeningeal melanomas are rare, comprising less than one percent of all brain tumours. They are aggressive and radioresistant tumours, with a poor prognosis. The mainstay of treatment is complete surgical resection and chemotherapy with limited success. Distinguishing a primary leptomeningeal melanoma from the more common metastatic disease can be difficult, and often requires the use of ancillary molecular testing. Primary central nervous system melanomas, including uveal melanomas, frequently exhibit mutations in GNAQ and GNA11, rare in the cutaneous and mucosal counterparts.A case of a primary leptomeningeal melanoma of the cerebellopontine angle is described. Molecular studies identified a GNA11 p.Q209L and a KIT p.M541L missense variant, with losses of chromosomes 1p and 3p demonstrated with cytogenetic studies. Complete surgical resection was not possible and leptomeningeal metastatic disease rapidly ensued despite immunotherapy. Further understanding of the molecular signature may translate to improved diagnosis, prognostication and development of targeted therapies.
- Subjects :
- Uveal Neoplasms
Pathology
medicine.medical_specialty
medicine.medical_treatment
Case Report
Disease
03 medical and health sciences
0302 clinical medicine
medicine
Missense mutation
Humans
Melanoma
Chemotherapy
GNA11
business.industry
Neurooncology
General Medicine
Immunotherapy
Cerebellopontine angle
Prognosis
GTP-Binding Protein alpha Subunits
030220 oncology & carcinogenesis
Mutation
GTP-Binding Protein alpha Subunits, Gq-G11
business
030217 neurology & neurosurgery
GNAQ
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 14
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- BMJ case reports
- Accession number :
- edsair.doi.dedup.....330e51041db99618d2b5b03e650d80f1