Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
case_series · Level IV
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- Record sourced from PubMed, PMID 27472264.
- Also identified by DOI 10.1002/ana.24753.
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Abstract
Schwannomatosis is a genetic disorder characterized by the occurrence of multiple peripheral schwannomas. Segmental schwannomatosis is diagnosed when schwannomas are restricted to 1 extremity and is thought to be caused by genetic mosaicism. We studied 5 patients with segmental schwannomatosis through microstructural magnetic resonance neurography and mutation analysis of NF2, SMARCB1, and LZTR1. In 4 of 5 patients, subtle fascicular nerve lesions were detected in clinically unaffected extremities. Two patients exhibited LZTR1 germline mutations. This appears contrary to a simple concept of genetic mosaicism and suggests more complex and heterogeneous mechanisms underlying the phenotype of segmental schwannomatosis than previously thought. Ann Neurol 2016;80:625-628.
Medical subject headings
- Lower Extremity
- Neurilemmoma
- Neurofibromatoses
- Peripheral Nerves
- Skin Neoplasms
- Transcription Factors
- Upper Extremity