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Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor
Author(s) -
Kerl Kornelius,
Oyen Florian,
Leuschner Ivo,
Schneppenheim Reinhard,
Nagel Inga,
Siebert Reiner,
Groll Andreas H.,
Hartmann Wolfgang,
Barth Peter Josef,
Bartelheim Kerstin,
Seringer Angela,
Wardelmann Eva,
Frühwald Michael C.
Publication year - 2015
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25412
Subject(s) - medicine , smarcb1 , blood cancer , multiplex ligation dependent probe amplification , ascites , pathology , biopsy , radiology , cancer , gene , biochemistry , chemistry , chromatin remodeling , chromatin , exon
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.