Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.

doi:10.1007/s11060-017-2711-6

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Article

Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.

Journal of neuro-oncology - 1 Mar 2018

Paganini Irene, Capone Gabriele Lorenzo, Vitte Jeremie, Sestini Roberta, Putignano Anna Laura, Giovannini Marco, Papi Laura

Abstract excerpt

In sporadic schwannomas, inactivation of both copies of the NF2 tumor suppressor gene on 22q is common. Constitutional mutations of SMARCB1 are responsible of schwannomatosis, an inherited tumor predisposition syndrome, characterized by the development of multiple schwannomas. We analysed the frequency of copy number changes on chromosome 22 and the mutation of NF2 and SMARCB1 in 26 sporadic schwannomas. We found...

Topics

Adult
Aged
Child
Chromosomes, Human, Pair 22
Female
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Mutation
Neurilemmoma
Neurofibromin 2
Neuroma, Acoustic
SMARCB1 Protein
Spinal Neoplasms
Young Adult

Source

Open in PubMed

Identifiers

PMID: 29230670
DOI: 10.1007/s11060-017-2711-6

Genes

SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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