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

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

D Gareth Evans  1 , Ludwine M Messiaen  2 , William D Foulkes  3 , Rachel E A Irving  4 , Alexandra J Murray  4 , Cristina Perez-Becerril  5 , Barbara Rivera  6 , Donna M McDonald-McGinn  7   8 , David A Stevenson  9 , Miriam J Smith  5
Affiliations

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

D Gareth Evans et al. Genet Med. 2021 Sep.

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.

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Conflict of interest statement

D.G.E. has received travel grants from AstraZeneca. The other authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Schematic diagram of chr 22q11.2 indicating low copy repeat regions.
Solid gray bars indicate (a) the common 3-mb deletion region seen in 22q11.2DS (upper bar), (b) the deleted region in the LZTR1-associated vestibular schwannoma patient with a whole-gene deletion (middle bar), and (c) the approximate breakpoints in tumors from two unrelated LZTR1-associated schwannomatosis patients (lower bar).
See this image and copyright information in PMC

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