Visceral primitive peripheral neuroectodermal tumors: A clinicopathologic and molecular study

Maureen J. O’Sullivan, Elizabeth J. Perlman, Jaime Furman, Peter A. Humphrey, Louis P. Dehner, John D. Pfeifer

Research output: Contribution to journalArticle

87 Scopus citations

Abstract

Ewing sarcoma-primitive neuroectodermal tumor (EWS/PNET) belongs to the group of pediatric small round blue cell tumors; although EWS/PNET is classically a tumor of the soft tissue or bone in children and young adults, individual cases have been described in patients of all ages. A group of chromosomal translocations involving the EWS gene and a member of the Ets transcription factor family of genes has been detected in EWS/PNET, and heterogeneity in the precise breakpoint of the translocation has been shown to generate a group of related fusion transcripts that may have prognostic significance. Within the last decade, the clinicopathologic spectrum of EWS/PNET has been markedly expanded by recognition that the tumor may also have a visceral origin. To determine whether visceral EWS/PNET has the same pattern of genetic alterations and range of fusion transcripts as EWS/PNET of bone and soft tissue, we performed reverse-transcription polymerase chain reaction-based testing of formalin-fixed, paraffin-embedded tissue from a series of visceral tumors for which the diagnosis of EWS/PNET was well established. Together with additional cases compiled from the literature, EWS-Fli1 (or a related fusion transcript) was present in 18 of 19 visceral EWS/PNET, with a distribution of transcript types not statistically different from EWS/PNET of soft tissue and bone (P >. 05, χ2test). These results firmly establish the genetic relationship between EWS/PNET of visceral sites, soft tissue, and bone.

Original languageEnglish
Pages (from-to)1109-1115
Number of pages7
JournalHuman Pathology
Volume32
Issue number10
DOIs
StatePublished - Jan 1 2001

Keywords

  • Ewing sarcoma-primitive neuroectodermal tumor
  • Fusion transcript
  • Viscera

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