Intracardiac Low-grade Sarcoma Following Treatment for Ewing Sarcoma

J Pediatr Hematol Oncol. 2017 Nov;39(8):e443-e445. doi: 10.1097/MPH.0000000000000754.

Abstract

A 16-year-old male was diagnosed with Ewing sarcoma of the ribcage with pulmonary metastases. Six months after completion of scheduled therapy, he was found to have a new intracardiac mass, presumed recurrent Ewing sarcoma. EWSR1 fusion was not detected by droplet digital polymerase chain reaction from blood plasma. After no improvement with salvage chemotherapy, he underwent surgical resection that identified a low-grade spindle cell sarcoma. Despite the near-synchronous presentation of 2 unrelated sarcomas, extensive genomic analyses did not reveal any unifying somatic or germline mutations nor any apparent cancer predisposition. This case also highlights the potential role of utilizing plasma cell-free DNA for diagnosing tumors in locations where biopsy confers high morbidity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Antineoplastic Combined Chemotherapy Protocols / adverse effects
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Biopsy
  • Calmodulin-Binding Proteins / genetics
  • Heart Neoplasms / diagnosis*
  • Heart Neoplasms / etiology*
  • Humans
  • Male
  • Mutation
  • Neoplasms, Second Primary*
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins / genetics
  • Sarcoma / diagnosis*
  • Sarcoma / etiology*
  • Sarcoma, Ewing / complications*
  • Sarcoma, Ewing / diagnosis
  • Sarcoma, Ewing / genetics
  • Sarcoma, Ewing / therapy
  • Tomography, X-Ray Computed

Substances

  • Calmodulin-Binding Proteins
  • EWSR1 protein, human
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins