Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Genomic analysis reveals low tumor mutation burden which may be associated with GNAQ/11 alteration in a series of primary leptomeningeal melanomas.

Pigment cell & melanoma research - 1 May 2020

Fortin Ensign Shannon, Bollin Kathryn, Millis Sherri Z, Hinds Brian R, Kosty Michael, Uchiyama Christopher

Abstract excerpt

Primary central nervous system melanoma is rare and characterized by a variable prognosis, and no current treatment guidelines exist. We describe the clinical course of a 70-year-old female patient diagnosed with primary leptomeningeal melanoma (LMN) whose case represents the diagnostic and management challenges of this tumor. Targeted genomic sequencing of 315 genes from this tumor revealed GNAQ Q209L mutation...

Topics

Aged
Cohort Studies
Female
GTP-Binding Protein alpha Subunits
GTP-Binding Protein alpha Subunits, Gq-G11
Genetic Association Studies
Genetic Predisposition to Disease
Genomics
Humans
Meningeal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Tomography, X-Ray Computed

Source

Identifiers

PMID: 31663661
DOI: 10.1111/pcmr.12839

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic analysis reveals low tumor mutation burden which may be associated with GNAQ/11 alteration in a series of primary leptomeningeal melanomas.PMID 31663661Read ↗

Primary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin.Semantic proximity Read ↗

Mutations in g protein encoding genes and chromosomal alterations in primary leptomeningeal melanocytic neoplasms.Semantic proximity Read ↗

Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.Semantic proximity Read ↗

Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system.Semantic proximity Read ↗

Genomic Landscape of GNAQ and GNA11 Mutations in Metastatic Solid Tumors: A Real-World Data Analysis.Semantic proximity Read ↗

NRAS(Q61K) mutated primary leptomeningeal melanoma in a child: case presentation and discussion on clinical and diagnostic implications.Semantic proximity Read ↗

Primary melanocytic tumors of the central nervous system: a review with focus on molecular aspects.Semantic proximity Read ↗

Mutation analysis of metastatic melanomas in the central nervous system: results of a panel of 5 genes in 48 cases.Semantic proximity Read ↗

Utility of next-generation sequencing in the diagnosis of metastatic melanoma: A case report.Semantic proximity Read ↗

Primary leptomeningeal melanocytic neoplasms: A clinicopathologic, immunohistochemical, and molecular study of 12 cases.Semantic proximity Read ↗

A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance.Semantic proximity Read ↗

NRASQ61K mutated diffuse leptomeningeal melanomatosis in an adult patient with a brief review of the so-called "forme fruste" of neurocutaneous melanosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.