Pitfalls in the detection of t(11;22) translocation by fluorescence in situ hybridization and RT-PCR: A single-blinded study

Diagnostic Molecular Pathology

Volumn 15, Issue 2, 2006, Pages 83-89

  Friedrichs, Nicolaus ^a   Kriegl, Lydia ^b   Poremba, Christopher ^b   Schaefer, Karl Ludwig ^b   Gabbert, Helmut Erich ^b   Shimomura, Akihiko ^c   Paggen, Ellen ^a   Merkelbach Bruse, Sabine ^a   Buettner, Reinhard ^a  

^a UNIVERSITY OF BONN   (Germany)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

EWS; FISH; PCR; Sarcoma; t(11, 22); Translocation

Indexed keywords

PARAFFIN; PRIMER DNA;

ADULT; AGED; ARTICLE; CHROMOSOME 11; CHROMOSOME 22; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; COLON CARCINOMA; COLON MUCOSA; CONTROLLED STUDY; DISOMY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LABORATORY DIAGNOSIS; MOLECULAR GENETICS; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYSOME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UNIVERSITY HOSPITAL; CASE CONTROL STUDY; CLINICAL TRIAL; COLON TUMOR; COMPARATIVE STUDY; GENE TRANSLOCATION; GENETICS; METHODOLOGY; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; PREDICTION AND FORECASTING; SINGLE BLIND PROCEDURE; SMALL CELL CARCINOMA; SMALL CELL SARCOMA; STATISTICS;

ADULT; AGED; BASE SEQUENCE; CARCINOMA, SMALL CELL; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 22; COLONIC NEOPLASMS; DNA PRIMERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PREDICTIVE VALUE OF TESTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SARCOMA, SMALL CELL; SINGLE-BLIND METHOD; TRANSLOCATION, GENETIC;

EID: 33746470441     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019606-200606000-00004     Document Type: Article

References (28)

1. Kowalczyk JR, Gaworczyk A, Winnicka D, et al. Fluorescence in situ hybridization BCR/ABL fusion signal rate in interphase nuclei of healthy volunteer donors: a test study for establishing false positive rate. Cancer Genet Cytogenet. 2003;142:51-55.
2. Sekiguchi N, Kobayashi Y, Yokota Y, et al. Follicular lymphoma subgrouping by fluorescence in situ hybridization analysis. Cancer Sci. 2005;96:77-82.
3. Nagao K, Ito H, Yoshida H, et al. Chromosomal rearrangement t(11;22) in extraskeletal Ewing's sarcoma and primitive neuroectodermal tumour analysed by fluorescence in situ hybridization using paraffin-embedded tissue. J Pathol. 1997;181:62-66.
4. Nishio J, Iwasaki H, Ishiguro M, et al. Synovial sarcoma with a secondary chromosome change der(22)t(17;22)(q12;q12). Cancer Genet Cytogenet. 2002;137:23-28.
5. Katenkamp K, Richter P, Slatosch T, et al. Simultaneous analysis of t(X;18) by FISH- and SYT/SSX-RT-PCR in synovial sarcoma. Pathologe. 2005;26:111-116.
6. Friedrichs N, Testi MA, Moiraghi L, et al. Clear cell sarkoma-like tumor with giant cells in the small bowel-further evidence for a new tumor entity? Int J Surg Pathol. 2005;13:313-318.
7. May WA, Gishizky ML, Lessnick SL, et al. Ewing sarcoma 11;22 translocation produces a chimeric transcription factor that requires the DNA-binding domain encoded by FLI1 for transformation. Proc Natl Acad Sci U S A. 1993;90:5752-5756.
8. May WA, Lessnick SL, Braun BS, et al. The Ewing's sarcoma EWS/FLI-1 fusion gene encodes a more potent transcriptional activator and is a more powerful transforming gene than FLI-1. Mol Cell Biol. 1993;13:7393-7398.
9. Avigad S, Cohen IJ, Zilberstein J, et al. The predictive potential of molecular detection in the nonmetastatic Ewing family of tumors. Cancer. 2004;100:1053-1058.
10. Dagher R, Pham TA, Sorbara L, et al. Molecular confirmation of Ewing sarcoma. J Pediatr Hematol Oncol. 2001;23:221-224.
11. Dedeurwaerdere F, Giannini C, Sciot R, et al. Primary peripheral PNET/Ewing's sarcoma of the dura: a clinicopathologic entity distinct from central PNET. Mod Pathol. 2002;15:673-678.
12. Gardner LJ, Ayala AG, Monforte HL, et al. Ewing sarcoma/peripheral primitive neuroectodermal tumor: adult abdominal tumors with an Ewing sarcoma gene rearrangement demonstrated by fluorescence in situ hybridization in paraffin sections. Appl Immunohistochem Mol Morphol. 2004;12:160-165.
13. Hill DA, O'Sullivan MJ, Zhu X, et al. Practical application of molecular genetic testing as an aid to the surgical pathologic diagnosis of sarcomas: a prospective study. Am J Surg Pathol. 2002;26:965-977.
14. Izycka-Swieszewska E, Kloc W, Plata-Nazar K, et al. Heterogeneity of extraparenchymal primitive neuroectodermal tumors within the craniospinal axis. Folia Histochem Cytobiol. 2004;42:229-234.
15. Noguera R, Pellin A, Navarro S, et al. Translocation (10;11;22) (p14;q24;q12) characterized by fluorescence in situ hybridization in a case of Ewing's tumor. Diagn Mol Pathol. 2001;10:2-8.
16. O'Sullivan MJ, Perlman EJ, Furman J, et al. Visceral primitive peripheral neuroectodermal tumors: a clinicopathologic and molecular study. Hum Pathol. 2001;32:1109-1115.
17. Yaniv I, Cohen IJ, Stein J, et al. Tumor cells are present in stem cell harvests of Ewings sarcoma patients and their persistence following transplantation is associated with relapse. Pediatr Blood Cancer. 2004;42:404-409.
18. Yoshida H, Nagao K, Ito H, et al. Chromosomal translocations in human soft tissue sarcomas by interphase fluorescence in situ hybridization. Pathol Int. 1997;47:222-229.
19. Ordonez NG. Desmoplastic small round cell tumor: II: an ultrastructural and immunohistochemical study with emphasis on new immunohistochemical markers. Am J Surg Pathol. 1998;22:1314-1327.
20. Trupiano JK, Machen SK, Barr FG, et al. Cytokeratin-negative desmoplastic small round cell tumor: a report of two cases emphasizing the utility of reverse transcriptase-polymerase chain reaction. Mod Pathol. 1999;12:849-853.
21. de Alava E, Kawai A, Healey JH, et al. EWS-FLI-1 fusion transcript structure is an independent determinant of prognosis in Ewing's sarcoma. J Clin Oncol. 1998;16:1248-1255.
22. Qian X, Jin L, Shearer BM, et al. Molecular diagnosis of Ewing's sarcoma/primitive neuroectodermal tumor in formalin-fixed paraffin-embedded tissues by RT-PCR and fluorescence in situ hybridization. Diagn Mol Pathol. 2005;14:23-28.
23. Amiel A, Ohali A, Fejgin M, et al. Molecular cytogenetic parameters in Ewing sarcoma. Cancer Genet Cytogenet. 2003;140:107-112.
24. Ozaki T, Paulussen M, Poremba C, et al. Genetic imbalances revealed by comparative genomic hybridization in Ewing tumors. Genes Chromosomes Cancer. 2001;32:164-171.
25. Paska C, Bogi K, Szilak L, et al. Effect of formalin, acetone, and RNAlater fixatives on tissue preservation and different size amplicons by real-time PCR from paraffin-embedded tissue. Diagn Mol Pathol. 2004;13:234-240.
26. Fritsch MK, Bridge JA, Schuster AE, et al. Performance characteristics of a reverse transcriptase-polymerase chain reaction assay for the detection of tumor-specific fusion transcripts from archival tissue. Pediatr Dev Pathol. 2003;6:43-53.
27. Petersen BL, Sorensen MC, Pedersen S, et al. Fluorescence in situ hybridization on formalin-fixed and paraffin-embedded tissue: optimizing the method. Appl Immunohistochem Mol Morphol. 2004;12:259-265.
28. Poremba C, Scheel C, Hero B, et al. Telomerase activity and telomerase subunits gene expression patterns in neuroblastoma: a molecular and immunohistochemical study establishing prognostic tools for fresh-frozen and paraffin-embedded tissues. J Clin Oncol. 2000;18(13):2582-2592.