title: Visceral primitive peripheral neuroectodermal tumors: a clinicopathologic and molecular study.
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, chi(2) test). These results firmly establish the genetic relationship between EWS/PNET of visceral sites, soft tissue, and bone.
authors.affiliation: Lauren V. Ackerman Laboratory of Surgical Pathology, Washington University Medical Center, St Louis, MO 63110, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: O'Sullivan
authors.forename: E J
authors.initials: EJ
authors.lastname: Perlman
authors.forename: J
authors.initials: J
authors.lastname: Furman
authors.forename: P A
authors.initials: PA
authors.lastname: Humphrey
authors.forename: L P
authors.initials: LP
authors.lastname: Dehner
authors.forename: J D
authors.initials: JD
authors.lastname: Pfeifer
mesh_terms: D000008:Abdominal Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000032:analysis; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D015514:Oncogene Proteins, Fusion / Q000032:analysis / Q000235:genetics; D051789:Proto-Oncogene Protein c-fli-1; D012333:RNA, Messenger / Q000378:metabolism; D012334:RNA, Neoplasm / Q000032:analysis; D034802:RNA-Binding Protein EWS; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012512:Sarcoma, Ewing / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D012983:Soft Tissue Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000032:analysis / Q000235:genetics; D014781:Viscera / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor; D017931:DNA Primers; D004273:DNA, Neoplasm; C106031:EWS-FLI fusion protein; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D012333:RNA, Messenger; D012334:RNA, Neoplasm; D034802:RNA-Binding Protein EWS; D014157:Transcription Factors