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Article

A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.

The Journal of molecular diagnostics : JMD - 1 Oct 2005

Ichikawa Tomotsugu, Wakisaka Akiko, Daido Shigeru, Takao Soichiro, Tamiya Takashi, Date Isao, Koizumi Shoichi, Niida Yo

Abstract excerpt

Subependymal giant cell astrocytoma (SEGA) is a unique brain tumor arising in tuberous sclerosis complex (TSC), an autosomal dominant inherited phacomatosis. There are several case reports of solitary SEGA without any other manifestations of TSC. Usually these cases are thought to be forme fruste of TSC due to somatic mosaicism. However, no previous reports have used molecular methodology to fully investigate...

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Source

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Identifiers

PMID: 16237225
DOI: 10.1016/S1525-1578(10)60586-7
PMCID: PMC1888498

Genes

TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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