Evans, D. GarethMessiaen, Ludwine M.Foulkes, William D.Irving, Rachel E. A.Murray, Alexandra J.Perez-becerril, CristinaRivera, BarbaraMcDonald McGinn, Donna M.Stevenson, David A.Smith, Miriam J.2021-05-142021-05-142021-04-20https://hdl.handle.net/2445/177297Purpose: 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.4 p.application/pdfengcc by (c) Evans et al., 2021http://creativecommons.org/licenses/by/3.0/es/TumorsGenèticaTumorsGeneticsinfo:eu-repo/semantics/article2021-05-13info:eu-repo/semantics/openAccess33879870