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Article

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.

BMC medical genomics - 24 Jan 2015

Castellanos Elisabeth, Bielsa Isabel, Carrato Cristina, Rosas Imma, Solanes Ares, Hostalot Cristina, Amilibia Emilio, Prades José, Roca-Ribas Francesc, Lázaro Conxi, Blanco Ignacio, Serra Eduard

Abstract excerpt

BACKGROUND: A clinical overlap exists between mosaic Neurofibromatosis Type 2 and sporadic Schwannomatosis conditions. In these cases a molecular analysis of tumors is recommended for a proper genetic diagnostics. This analysis is challenged by the fact that schwannomas in both conditions bear a somatic double inactivation of the NF2 gene. However, SMARCB1-associated schwannomas follow a four-hit, three-step...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25739810
DOI: 10.1186/s12920-015-0076-2
PMCID: PMC4310195

Genes

SMARCB1

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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