Abstract A29: Balanced translocations disrupting SMARCB1 are hallmark recurrent genetic alterations in renal medullary carcinomas

摘要: Renal medullary carcinoma (RMC) is a rare and highly aggressive neoplasm that most often occurs in young patients or children with sickle cell trait disease (SCD). Although BAF47 staining constantly negative these tumors, the genetic mechanism underlying this phenotype remains unknown, since all cases reported so far show SMARCB1 hemizygous deletion only. By investigating series of five RMC by gene expression profiling, array-CGH, RNA whole-exome sequencing, we demonstrated inactivation related to an original inter-chromosomal balanced translocations disrupt sequence thus contribute its inactivation. were also characterised simple genome, low mutation rate lack recurrent molecular alterations other than deficiency, emphasizing potency as single event drive oncogenesis. Finally, profiling revealed share common oncogenic pathways pediatric malignant rhabdoid another lethal tumor subtype deficiency Citation Format: Julien Calderaro, Masliah-Planchon, Wilfrid Richer, Laetitia Planque, Pascale Maille, Alexandre de la Taille, Helene Boussion, Olivier Delattre, Yves Allory, Franck Bourdeaut. Balanced disrupting are hallmark renal carcinomas. [abstract]. In: Proceedings AACR Special Conference on Advances Pediatric Cancer Research: From Mechanisms Models Treatment Survivorship; 2015 Nov 9-12; Fort Lauderdale, FL. Philadelphia (PA): AACR; Res 2016;76(5 Suppl):Abstract nr A29.