Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.
Where this comes from
- Record sourced from PubMed, PMID 33879870.
- Also identified by DOI 10.1038/s41436-021-01175-0 and PMC identifier 8460436.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
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. We assessed the genetic testing results for LZTR1-associated schwannomatosis and the clinical phenotypes of patients with 22q11.2DS. 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. People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population.
Medical subject headings
- DiGeorge Syndrome
- Marfan Syndrome
- Neurilemmoma
- Neurofibromatoses
- Neuroma, Acoustic