Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant tumor that is commonly associated with biallelic alterations of SMARCB1. Recurrent or refractory AT/RT has not been molecularly characterized as well. We present the case of a child with recurrent AT/RT who underwent clinically integrated molecular profiling (germline DNA and tumor DNA/RNA sequencing). This demonstrated a somatic lesion in CDKN1C alongside hallmark loss of SMARCB1. This data allowed us to explore potential personalized therapies for this patient and expose a molecular driver that may be involved in similar cases.
Departments of *Pediatrics, Division of Pediatric Hematology-Oncology
§Pediatrics, Division of Neurology, University of Michigan, Ann Arbor
‡Division of Pediatric Hematology-Oncology, Beaumont Hospital, Royal Oak, MI
The University of Michigan PEDS-MIONCOSEQ study was supported by grant 1UM1HG006508 from the National Institutes of Health Clinical Sequencing Exploratory Research Award (PI: Arul Chinnaiyan, Co-I: Rajen Mody).
C.K. is supported by NIH/NINDS grant K08-NS099427-01. The remaining authors declare no conflict of interest.
Reprints: Carl Koschmann, MD, Division of Pediatric Hematology-Oncology, University of Michigan, Ann Arbor, MI 48109 (e-mail: firstname.lastname@example.org).
Received December 9, 2016
Accepted April 24, 2017