Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

Genet Med. 2021 Sep;23(9):1779-1782. doi: 10.1038/s41436-021-01175-0. Epub 2021 Apr 20.

Abstract

Purpose: The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in 500 people in the general population will develop a sporadic schwannoma and there are no reports of the occurrence of schwannoma in 22q11.2DS, we investigated whether whole-gene deletion of LZTR1 occurs in schwannomatosis and assessed the risk of schwannoma in 22q11.2DS.

Methods: We assessed the genetic testing results for LZTR1-associated schwannomatosis and the clinical phenotypes of patients with 22q11.2DS.

Results: There were no reports of schwannoma in over 1,500 patients with 22q11.2DS. In addition, no patients meeting clinical diagnostic criteria for schwannomatosis had a whole-gene deletion in LZTR1. Only 1 patient in 110 with an apparently sporadic vestibular schwannoma had a constitutional whole-gene deletion of LZTR1.

Conclusion: People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • DiGeorge Syndrome*
  • Humans
  • Marfan Syndrome*
  • Neurilemmoma* / epidemiology
  • Neurilemmoma* / genetics
  • Neurofibromatoses*
  • Neuroma, Acoustic*
  • Transcription Factors

Substances

  • LZTR1 protein, human
  • Transcription Factors