Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor

J Pediatr Hematol Oncol. 2017 Nov;39(8):e466-e469. doi: 10.1097/MPH.0000000000000873.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Biopsy
  • Brain / pathology
  • Combined Modality Therapy
  • Cyclin-Dependent Kinase Inhibitor p57 / genetics*
  • Female
  • Humans
  • Immunohistochemistry
  • Infant
  • Magnetic Resonance Imaging
  • Mutation*
  • Recurrence
  • Rhabdoid Tumor / diagnosis*
  • Rhabdoid Tumor / genetics*
  • Rhabdoid Tumor / therapy
  • Sequence Analysis, DNA
  • Teratoma / diagnosis*
  • Teratoma / genetics*
  • Teratoma / therapy
  • Treatment Outcome

Substances

  • CDKN1C protein, human
  • Cyclin-Dependent Kinase Inhibitor p57