好色先生

好色先生

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Abstract Details

A Case of Schwannomatosis Arising From a Germline POT1 Mutation
Neuro-oncology
P8 - Poster Session 8 (11:45 AM-12:45 PM)
6-007
Schwannomas are benign nerve sheath tumors that can arise from cranial, spinal, or peripheral nerves. In 2022 the nomenclature for tumor predisposition syndromes leading to schwannoma formation was revised to identify syndromes based on the underlying pathogenic genetic variant (PV) rather than clinical features. The three most commonly implicated PVs are NF2, SMARCB1, and LZTR1 [1]. We report the case of a 46-year-old man referred to our clinic following thoracic spine surgery for two pathologically confirmed WHO Grade 1 schwannomas. Genetic counseling and testing revealed a germline POT1 mutation (c.360_363delCAAG). POT1 is a well-established tumor suppressor gene implicated in melanoma and sarcoma predisposition but has not previously been associated with schwannomatosis. Both Ambry Genetics and Invitae/LabCorp databases contained only one prior report of this specific variant.  Next-generation sequencing of both tumor tissue specimens revealed pathogenic frameshift mutations in both POT1 and NF2, consistent with the “four-hit mechanism” proposed by Sestini et al. To our knowledge, this is the first published report describing germline POT1-associated schwannomatosis. This case broadens the genetic landscape of schwannoma predisposition syndromes and highlights the importance of comprehensive germline and somatic testing in patients with multiple schwannomas. 
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Authors/Disclosures
Robert Alavi, MD (WFSOM)
PRESENTER 		Dr. Alavi has nothing to disclose.
Roy E. Strowd III, MD, FAAN (Wake Forest School Of Medicine) Dr. Strowd has received personal compensation for serving as an employee of Kaplan. Dr. Strowd has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Monteris Medical, Inc. Dr. Strowd has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novocure. The institution of Dr. Strowd has received personal compensation in the range of $500-$4,999 for serving as a Consultant for SpringWorks . Dr. Strowd has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for 好色先生. The institution of Dr. Strowd has received research support from Southeastern Brain Tumor Foundation. The institution of Dr. Strowd has received research support from Jazz Pharmaceuticals. The institution of Dr. Strowd has received research support from National Institutes of Health. The institution of Dr. Strowd has received research support from Alpha Omega Alpha. The institution of Dr. Strowd has received research support from American Board of Psychiatry and Neurology. Dr. Strowd has received publishing royalties from a publication relating to health care. Dr. Strowd has received publishing royalties from a publication relating to health care.