Visceral primitive peripheral neuroectodermal tumors: A clinicopathologic and molecular study

被引:77
作者
O'Sullivan, MJ
Perlman, EJ
Furman, J
Humphrey, PA
Dehner, LP
Pfeifer, JD
机构
[1] Washington Univ, Med Ctr, Lauren v Ackerman Lab Surg Pathol, St Louis, MO 63110 USA
[2] Johns Hopkins Sch Med, Dept Surg Pathol, Baltimore, MD USA
[3] Univ Florida, Dept Pathol, Gainesville, FL 32611 USA
关键词
Ewing sarcoma-primitive neuroectodermal tumor; viscera; fusion transcript;
D O I
10.1053/hupa.2001.28247
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
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. Hum PATHOL 32:1109-1115. Copyright (C) 2001 by W.B. Saunders Company.
引用
收藏
页码:1109 / 1115
页数:7
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