Adamantinoma-like Ewing's sarcoma: Genomic confirmation, phenotypic drift

被引:89
作者
Bridge, JA
Fidler, ME
Neff, JR
Degenhardt, J
Wang, M
Walker, C
Dorfman, HD
Baker, KS
Seemayer, TA
机构
[1] Univ Nebraska, Med Ctr, Dept Pathol & Microbiol, Omaha, NE 68198 USA
[2] Univ Nebraska, Med Ctr, Dept Pediat, Omaha, NE 68198 USA
[3] Univ Nebraska, Med Ctr, Dept Orthopaed Surg, Omaha, NE 68198 USA
[4] Univ Nebraska, Med Ctr, Dept Radiol, Omaha, NE 68198 USA
[5] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Pathol, Bronx, NY 10467 USA
[6] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Radiol, Bronx, NY 10467 USA
[7] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Orthopaed Surg, Bronx, NY 10467 USA
关键词
Ewing's sarcoma; adamantinoma; EWS/FLI-1; RT/PCR; karyotype;
D O I
10.1097/00000478-199902000-00004
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Ewing's sarcoma, a highly malignant neoplasm, is characterized by an 11;22 translocation [t(11;22) (q24;q12)], resulting in the fusion of genes FLI1 and EWS. Adamantinoma of extragnathic bones, a low-grade malignant neoplasm with epithelial features, is not typically considered in the differential diagnosis of Ewing's sarcoma. In this study, three osseous Ewing's sarcomas with histological, immunohistochemical, or ultrastructural epithelial features were subjected to reverse transcription-polymerase chain reaction and sequencing studies for the Ewing's sarcoma molecular rearrangement. (Two of the three cases were originally described as adamantinomas or nontypical Ewing's sarcoma before the availability of genetic characterization.) In addition, traditional cytogenetic analysis and a unique combined interphase molecular cytogenetic/immunocytochemical approach with bicolor 11;22 translocation breakpoint flanking probes (cosmids) and pancytokeratin antibodies were performed on one neoplasm. A t(11;22) (q24;q12) was found in one neoplasm and a type II EWS/FLI-1 fusion transcript was detected in all three neoplasms. The combined genetic/immunocytochemical approach revealed the presence of the 11;22 translocation in the nuclei of cytokeratin immunoreactive cells. These genotypic and phenotypic findings delineate a novel Ewing's sarcoma histologic variant, "adamantinoma-like Ewing's sarcoma."
引用
收藏
页码:159 / 165
页数:7
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