Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor

We report on how MLPA and Sequencing of SMARCB1/INI1/SNF5 might be applied for initial diagnosis of rhabdoid tumor patients. These techniques were successfully used to detect loss of SMARCB1 in tumor cells of the ascites in a 3-month-old patient in which tumor biopsy could not initially be made due to life threatening intraabdominal bleedings. Pediatr Blood Cancer 2015;62:897-900. © 2015 Wiley Periodicals, Inc.