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Title: | Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma |
Author: | Evans, D. Gareth Messiaen, Ludwine M. Foulkes, William D. Irving, Rachel E. A. Murray, Alexandra J. Perez-becerril, Cristina Rivera, Barbara McDonald McGinn, Donna M. Stevenson, David A. Smith, Miriam J. |
Keywords: | Tumors Genètica Tumors Genetics |
Issue Date: | 20-Apr-2021 |
Publisher: | Springer Nature |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41436-021-01175-0 |
It is part of: | Genetics in Medicine, 2021 |
URI: | http://hdl.handle.net/2445/177297 |
Related resource: | https://doi.org/10.1038/s41436-021-01175-0 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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