Myogenin, AP2β, NOS-1, and HMGA2 are surrogate markers of fusion status in Rhabdomyosarcoma: A report from the soft tissue sarcoma committee of the children's oncology group

Erin R. Rudzinski, James R. Anderson, Elizabeth R. Lyden, Julia A. Bridge, Frederic G. Barr, Julie M. Gastier-Foster, Karen Bachmeyer, Stephen X. Skapek, Douglas S. Hawkins, Lisa A. Teot, David M. Parham

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24 Scopus citations

Abstract

Pediatric rhabdomyosarcoma (RMS) is traditionally classified on the basis of the histologic appearance into alveolar (ARMS) and embryonal (ERMS) subtypes. The majority of ARMS contain a PAX3-FOXO1 or PAX7-FOXO1 gene fusion, but about 20% do not. Intergroup Rhabdomyosarcoma Study stage-matched and group-matched ARMS typically behaves more aggressively than ERMS, but recent studies have shown that it is, in fact, the fusion status that drives the outcome for RMS. Gene expression microarray data indicate that several genes discriminate between fusion-positive and fusion-negative RMS with high specificity. Using tissue microarrays containing a series of both ARMS and ERMS, we identified a panel of 4 immunohistochemical markers-myogenin, AP2β, NOS-1, and HMGA2-which can be used as surrogate markers of fusion status in RMS. These antibodies provide an alternative to molecular methods for identification of fusion-positive RMS, particularly in cases in which there is scant or poor-quality material. In addition, these antibodies may be useful in fusion-negative ARMS as an indicator that a variant gene fusion may be present.

Original languageEnglish (US)
Pages (from-to)654-659
Number of pages6
JournalAmerican Journal of Surgical Pathology
Volume38
Issue number5
DOIs
StatePublished - May 2014

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Keywords

  • fusion status
  • immunohistochemistry
  • rhabdomyosarcoma

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

Cite this

Rudzinski, E. R., Anderson, J. R., Lyden, E. R., Bridge, J. A., Barr, F. G., Gastier-Foster, J. M., Bachmeyer, K., Skapek, S. X., Hawkins, D. S., Teot, L. A., & Parham, D. M. (2014). Myogenin, AP2β, NOS-1, and HMGA2 are surrogate markers of fusion status in Rhabdomyosarcoma: A report from the soft tissue sarcoma committee of the children's oncology group. American Journal of Surgical Pathology, 38(5), 654-659. https://doi.org/10.1097/PAS.0000000000000195