2026-04-17T13:57:26Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1772972025-12-05T12:37:15Zcom_2072_1057col_2072_478916col_2072_478917

urn:hdl:2445/177297 Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma 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. Tumors Genètica Tumors Genetics 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. 2021-05-14T09:01:06Z 2021-05-14T09:01:06Z 2021-04-20 2021-05-13T13:46:37Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Reproducció del document publicat a: https://doi.org/10.1038/s41436-021-01175-0 Genetics in Medicine, 2021 https://doi.org/10.1038/s41436-021-01175-0 cc by (c) Evans et al., 2021 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess Springer Nature Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))