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Four distinct ipsilateral vestibular schwannomas: A case of mosaic NF2-related schwannomatosis.
- Source :
-
American Journal of Clinical Pathology . Aug2024, Vol. 162 Issue 2, p110-114. 5p. - Publication Year :
- 2024
-
Abstract
- Objectives Distinguishing between sporadic and germline/mosaic NF2- related schwannomatosis is important to ensure that patients have appropriate long-term care. With this report, we describe a unique case of a patient with 4 ipsilateral schwannomas and identify a combination of sequencing modalities that can accurately diagnose mosaic NF2- related schwannomatosis. Methods We present a 32-year-old woman with a familial history of vestibular schwannoma in her father and right-sided schwannomas involving the apical and basal turns of cochlea, lateral semicircular canal, and internal auditory canal (IAC). Genetic analysis of blood and frozen tissue from 2 tumors (intralabyrinthine and IAC tumors) was performed using next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and optical genome mapping (OGM). Results Germline testing for NF2, LZTR1, and SMARCB1 was negative. Tumor genetic testing revealed a shared NF2 pathogenic variant between the 2 tumors ("first hit") but distinct "second hit" NF2 variants, including mosaic loss of chromosome 22 in the IAC tumor seen only with OGM, consistent with mosaic NF2- related schwannomatosis. Conclusions Multimodality sequencing, including NGS, MLPA, and OGM, was required to ensure appropriate diagnosis of mosaic NF2- related schwannomatosis in this patient. A similar approach can be used for other patients with multiple ipsilateral tumors and suspected tumor predisposition. [ABSTRACT FROM AUTHOR]
- Subjects :
- *NEUROFIBROMATOSIS 2
*ACOUSTIC neuroma
*MOSAICISM
*SEMICIRCULAR canals
*GENE mapping
Subjects
Details
- Language :
- English
- ISSN :
- 00029173
- Volume :
- 162
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- American Journal of Clinical Pathology
- Publication Type :
- Academic Journal
- Accession number :
- 178887395
- Full Text :
- https://doi.org/10.1093/ajcp/aqae027