Maturation toward neuronal tissue in a Ewing sarcoma of bone after chemotherapy

Diagn Pathol. 2016 Aug 9;11(1):74. doi: 10.1186/s13000-016-0516-0.

Abstract

Background: Ewing sarcoma is the second most common bone tumor, occurring mainly in children and young adults. It shows a typical primitive, small round cell morphology and a characteristic fusion oncogene involving EWSR1 and members of the ETS family in most of the cases. Neuronal maturation after chemotherapy is a rare phenomenon and we herein describe such an exceptional case.

Case presentation: An 8-year old boy was diagnosed with a Ewing sarcoma in the left femur. On biopsy the morphology was typical and there was an EWSR1-FLI1 gene fusion. He underwent neo-adjuvant chemotherapy and resection of the tumor. On microscopic evaluation, part of the tumor showed ganglioneuroblastoma-like differentiation with expression of neuronal markers. The continued presence of EWSR1 rearrangement in both the blue round cell component and the ganglioneuroblastoma-like component was shown by FISH analysis.

Conclusions: In conclusion, this case describes the possibility of a Ewing sarcoma to differentiate into a ganglioneuroblastoma-like lesion after neo-adjuvant chemotherapy treatment; the prognostic value of this phenomenon remains questionable.

Keywords: Differentiation; Ewing sarcoma; Maturation; Neural; Pathology.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Calmodulin-Binding Proteins / genetics*
  • Cell Differentiation
  • Chemotherapy, Adjuvant
  • Child
  • Doxorubicin / administration & dosage
  • Etoposide / administration & dosage
  • Femoral Neoplasms / diagnostic imaging
  • Femoral Neoplasms / drug therapy
  • Femoral Neoplasms / genetics*
  • Femoral Neoplasms / surgery
  • Femur / pathology
  • Ganglioneuroblastoma / diagnostic imaging
  • Ganglioneuroblastoma / drug therapy
  • Ganglioneuroblastoma / genetics*
  • Gene Rearrangement
  • Humans
  • Ifosfamide / administration & dosage
  • Male
  • Neoadjuvant Therapy
  • Oncogene Proteins, Fusion / genetics*
  • Prognosis
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins / genetics*
  • Sarcoma, Ewing / diagnostic imaging
  • Sarcoma, Ewing / drug therapy
  • Sarcoma, Ewing / genetics*
  • Sarcoma, Ewing / surgery
  • Treatment Outcome
  • Vincristine / administration & dosage

Substances

  • Calmodulin-Binding Proteins
  • EWSR1 protein, human
  • EWSR1-FLI1 fusion protein, human
  • Oncogene Proteins, Fusion
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins
  • Vincristine
  • Etoposide
  • Doxorubicin
  • Ifosfamide