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Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor

Tran, Dustin BSc*; Camelo-Piragua, Sandra MD; Gupta, Avneesh MD; Gowans, Kate MD; Robertson, Patricia L. MD§; Mody, Rajen MD*; Koschmann, Carl MD*

Journal of Pediatric Hematology/Oncology: November 2017 - Volume 39 - Issue 8 - p e466–e469
doi: 10.1097/MPH.0000000000000873
Online Articles: Clinical and Laboratory Observations

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

Pathology

§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: ckoschma@med.umich.edu).

Received December 9, 2016

Accepted April 24, 2017

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