Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor

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.

Infantile Brain Tumors: A Review of Literature and Future Perspectives

“…In cases that unexpectedly retain SMARCB1/INI1, it is important to investigate the SMARCA4/BRG1 expression because its inactivation predisposes a worse prognosis and the associated increased risk of a germline mutation [ 62 ]. A case of a recurrent rhabdoid tumor with a mutation in the cell cycle inhibitor CDKN1C in addition to the hallmark biallelic loss of SMARCB1 has recently been reported [ 63 ]. SMARCB1 regulates CDKN1C through LIN28B, a protein involved in early embryogenesis [ 64 ], which upregulates aurora kinase A (AURKA).…”