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Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor
Dustin Tran1, Sandra Camelo-Piragua, Avneesh Gupta
1Departments 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.
Abstract:
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.
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