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- Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group
Auteurs
M. C. Frühwald, K. Nemes, H. Boztug, M. C. A. Cornips, D. G. Evans, R. Farah, S. Glentis, M. Jorgensen, K. Katsibardi, S. Hirsch, K. Jahnukainen, I. Kventsel, K. Kerl, C. P. Kratz, K. W. Pajtler, U. Kordes, V. Ridola, E. Stutz, F. Bourdeaut
Résumé
Abstract
The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and the central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 are due to pathogenic variants (PV) in genes encoding constituents of the BAF chromatin remodeling complex, i.e.