Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant

Kornelius Kerl; Florian Oyen; Dimitra Giannikopoulou; Claudia Rössig; Georg Rellensmann; Julia Sandkötter; Angela Brentrup; Georg Selzer; Reinhard Schneppenheim; Michael C Frühwald

doi:10.1002/pbc.25996

Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant

Kornelius Kerl
Florian Oyen
Dimitra Giannikopoulou
Claudia Rössig
Georg Rellensmann
Julia Sandkötter
Angela Brentrup
Georg Selzer
Reinhard Schneppenheim
Michael C Frühwald

Related Research units

Department of Pediatric Hematology and Oncology

Abstract

We report the successful use of multiplex ligation-dependent probe amplification (MLPA) to detect heterozygous loss of SMARCB1/INI1/SNF5 in the germ line of an infant with a huge posterior fossa tumor. MLPA and Sanger sequencing of the SMARCB1 gene in the germ line may be useful for the initial diagnosis in a defined subgroup of infants with rhabdoid tumors, in which biopsies cannot be performed.

Bibliographical data

Original language	English
ISSN	1545-5009
DOIs	https://doi.org/10.1002/pbc.25996
Publication status	Published - 19.04.2016

PubMed	27092963