Cytologic diagnosis of Ewing sarcoma/peripheral neuroectodermal tumor with paired prospective molecular genetic analysis

BACKGROUND. Ewing sarcoma/peripheral neuroectodermal tumor (EWS/PNET), since its characterization immunophenotypically and cytogenetically, has emerged as one of most common sarcomas of childhood. Currently, it is recognized that EWS/PNET can occur in any number of extraosseous sites and is one of s...

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Published inCancer Vol. 111; no. 3; pp. 192 - 199
Main Authors Sanati, Souzan, Lu, Danielle W., Schmidt, Edith, Perry, Arie, Dehner, Louis P., Pfeifer, John D.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 25.06.2007
Wiley-Liss
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ISSN0008-543X
1097-0142
DOI10.1002/cncr.22692

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Summary:BACKGROUND. Ewing sarcoma/peripheral neuroectodermal tumor (EWS/PNET), since its characterization immunophenotypically and cytogenetically, has emerged as one of most common sarcomas of childhood. Currently, it is recognized that EWS/PNET can occur in any number of extraosseous sites and is one of several distinctive tumor types with an EWS translocation. In the past, the pathologic diagnosis of EWS/PNET relied on an open biopsy with the application of various ancillary studies, ranging from periodic acid‐Schiff stain to molecular testing, but the tumor increasingly is diagnosed on the basis of cytologic specimens alone. METHODS. The authors report 3 cases of EWS/PNET in patients aged 11 years to 53 years. These 3 patients had tumors that involved the parotid gland, cervical soft tissue, and pelvis, and were diagnosed by cytologic evaluation of fine‐needle aspiration (FNA) biopsy material alone. The FNA materials also were evaluated prospectively by fluorescence in situ hybridization and/or reverse transcriptase‐polymerase chain reaction. RESULTS. The results emphasized the diagnostic utility of FNA biopsy material for morphologic and molecular analysis without compromising conventional cytologic and immunocytochemical analysis, and that prospective molecular testing of FNA specimens has utility in routine practice although it is subject to many of the same limitations that impact molecular analysis when applied to conventional tissue biopsy specimens. CONCLUSIONS. The current results demonstrated that molecular genetic techniques can provide clinically useful ancillary information for FNA specimens when cytologic features and/or immunophenotype are equivocal on the basis of limited sampling or secondary changes, such as hemorrhage and/or necrosis. Cancer (Cancer Cytopathol) 2007. © 2007 by the American Cancer Society. The results from this study indicated that fine‐needle aspiration (FNA) needle rinse or cell block preparations provided sufficient material for molecular genetic testing by either fluorescence in situ hybridization or reverse transcriptase‐polymerase chain reaction without compromising conventional cytologic and immunocytochemical analyses. The findings showed that molecular testing can provide clinically useful ancillary information when a tumor's cytologic features and/or immunophenotype are equivocal, although testing is subject to many of the same limitations that impact the utility of molecular analysis when applied to conventional biopsy specimens.
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ISSN:0008-543X
1097-0142
DOI:10.1002/cncr.22692