PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications

Cancer Genet. 2019 Jun:235-236:28-30. doi: 10.1016/j.cancergen.2019.03.004. Epub 2019 Mar 26.

Abstract

Ewing sarcoma (ES), a common pediatric primary bone neoplasm, has a well-defined genomic landscape with various predisposing genomic elements including TP53, PMS2 and RET. Additionally, germline and somatic variants in protein tyrosine phosphatase delta (PTPRD), a tumor suppressor gene, have been identified in a limited number of ES patients. Here we present an ES patient, remarkable in terms of his young age and extent at presentation, found to have a PTPRD CNV. We explore the pathogenicity of this CNV, describe the patient's clinical course and touch upon the potential therapeutic implications in this subset of patients.

Keywords: Copy number variant; Ewing sarcoma; Germline; PTPRD.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone Neoplasms / genetics*
  • DNA Copy Number Variations / genetics*
  • Humans
  • Male
  • Receptor-Like Protein Tyrosine Phosphatases, Class 2 / genetics*
  • Sarcoma, Ewing / genetics*

Substances

  • PTPRD protein, human
  • Receptor-Like Protein Tyrosine Phosphatases, Class 2