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Article

Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report.

Journal of clinical laboratory analysis - 1 Jun 2022

Li Yu, Chen Lulu, Shao Dongqi, Zhang Binbin, Xie Shan, Zheng Xialin, Jiang Zhiquan

Abstract excerpt

BACKGROUND: Schwannomatosis is the third subtype of neurofibromatosis. Schwannomatosis, particularly the familial variant, is uncommon. Recently, germline mutations of the SMARCB1 gene have been found to cause schwannomatosis. In this report, we describe a case of familial inherited intraspinal schwannomatosis. Postoperative pathology indicated a schwannoma. The results of gene testing showed that the...

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Identifiers

PMID: 35446994
DOI: 10.1002/jcla.24448
PMCID: PMC9169182

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