Abstract
The malignant rhabdoid tumor (RT) is one of the most aggressive childhood neoplasm. RTs are characterized by the presence of inactivating mutations in the SMARCB1 (hSNF5/INI1/BAF47) gene – a tumor suppressor localized in 22q11.2. Up to 30 % of RTs caused by germline mutations of this gene, to date those cases are considered as a manifestation of the rhabdoid tumor predisposition syndrome type 1 (RTPS1). We have analyzed the SMARCB1 mutations by polymerase chain reaction and subsequent Sanger sequencing in 18 patients with RT in different localizations for improving of genetic laboratory diagnostics of the RTPS1, as well as searching of genotype-phenotype correlations in this disease. Three patients had de novo nonsense-mutations c.157C→T (p.R53*), c.669_670del (p.C223*) and c.843G→A (p.W281*), confirming RTPS1, which were associated with RT in the kidney, early age at diagnosis (median 2.6 months) and poor prognosis. Identification of germline SMARCB1 mutations in the patients with RTs is essential to assess the risk of metachronous tumors and for genetic counseling of other family members.
Highlights
Злокачественные рабдоидные опухоли (ЗРО) относятся к одним из наиболее агрессивных новообразований раннего детского возраста
rhabdoid tumor (RT) are characterized by the presence of inactivating mutations in the SMARCB1 gene – a tumor suppressor localized in 22q11.2
Up to 30 % of RTs caused by germline mutations of this gene, to date those cases are considered as a manifestation of the rhabdoid tumor predisposition syndrome type 1 (RTPS1)
Summary
Злокачественные рабдоидные опухоли (ЗРО) относятся к одним из наиболее агрессивных новообразований раннего детского возраста. Для их развития характерно наличие инактивирующей мутации гена SMARCB1 (hSNF5 / INI1 / BAF47), супрессора опухолевого роста, локализованного в локусе 22q11.2. До 30 % случаев заболевания обусловлены наличием герминальных мутаций этого гена, что на сегодняшний день расценивается как проявление синдрома предрасположенности к развитию рабдоидных опухолей 1-го типа (rhabdoid tumor predisposition syndrome type 1, RTPS1).
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
