Dense pattern of embryonal rhabdomyosarcoma, a lesion easily confused with alveolar rhabdomyosarcoma: a report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group

Am J Clin Pathol. 2013 Jul;140(1):82-90. doi: 10.1309/AJCPA1WN7ARPCMKQ.

Abstract

Objectives: To examine whether the frequency of fusion-negative alveolar rhabdomyosarcoma (ARMSn) increased coincident with changes in the definition of alveolar histology.

Methods: We re-reviewed alveolar rhabdomyosarcoma (ARMS) in the Children's Oncology Group study D9803, comparing histopathology with fusion status.

Results: Our review of 255 original ARMS cases (compared with a control group of 38 embryonal rhabdomyosarcomas [ERMS] cases) revealed that many had an ARMS-like densely cellular pattern with cytologic features and myogenin expression more typical of ERMS. Following re-review, 84 (33%) cases of original ARMS were rediagnosed as ERMS. All reclassified ERMS, including dense ERMS, were fusion negative, whereas 82% of confirmed ARMS cases were fusion positive. Total ARMS diagnoses returned to historic rates of 25% to 30% of all rhabdomyosarcomas, and ARMSn decreased from 37% to 18% of ARMS cases. The outcome of reclassified ERMS was similar to confirmed ERMS.

Conclusions: To address the role of fusion status in risk stratification, pathologists should include both a histologic diagnosis and an evaluation of fusion status for all new ARMS diagnoses.

Keywords: Alveolar rhabdomyosarcoma; Embryonal rhabdomyosarcoma; Histologic classification; Myogenin; Rhabdomyosarcoma.

Publication types

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

MeSH terms

  • Child
  • Diagnosis, Differential
  • Disease-Free Survival
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Myogenin / metabolism*
  • Ohio
  • Oncogene Proteins, Fusion / genetics*
  • PAX3 Transcription Factor
  • PAX7 Transcription Factor / genetics
  • Paired Box Transcription Factors / genetics*
  • Paraffin Embedding
  • Reverse Transcriptase Polymerase Chain Reaction
  • Rhabdomyosarcoma, Alveolar / classification*
  • Rhabdomyosarcoma, Alveolar / metabolism
  • Rhabdomyosarcoma, Alveolar / pathology
  • Rhabdomyosarcoma, Embryonal / classification*
  • Rhabdomyosarcoma, Embryonal / metabolism
  • Rhabdomyosarcoma, Embryonal / pathology
  • Sarcoma / classification*
  • Sarcoma / metabolism
  • Sarcoma / pathology
  • Survival Analysis
  • Urogenital Neoplasms / classification*
  • Urogenital Neoplasms / metabolism
  • Urogenital Neoplasms / pathology

Substances

  • FOXO1 protein, human
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors
  • Myogenin
  • Oncogene Proteins, Fusion
  • PAX3 Transcription Factor
  • PAX3 protein, human
  • PAX3-FOXO1A fusion protein, human
  • PAX7 Transcription Factor
  • PAX7 protein, human
  • Paired Box Transcription Factors