A t(17;22)(q21;q12) with partial ETV4 deletion in a soft tissue Ewing sarcoma

Cancer Genetics

Volumn 205, Issue 1-2, 2012, Pages 55-60

  Rougemont, Anne Laure ^a,b   Bouron Dal Soglio, Dorothée ^a,c   Patey Mariaud de Serre, Natacha ^a,c   Fetni, Raouf ^a,c   Fan, Li ^a   Barrette, Stéphane ^a   Fournet, Jean Christophe ^a,c  

^a UNIVERSITY OF MONTREAL   (Canada)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

ETS transcription factor family; ETV4; EWSR1; Pediatric small round cell tumor; Single nucleotide polymorphism array genotyping

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME 22Q; CHROMOSOME BANDING PATTERN; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CYTOGENETICS; DNA SEQUENCE; ETV4 GENE; EWING SARCOMA; EWSR1 GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE DELETION; GENE FUSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; INFANT; MOLECULAR MODEL; MOLECULAR PROBE; ONCOGENE; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOFT TISSUE SARCOMA; TRANSCRIPTION REGULATION; TUMOR GENE;

ADENOVIRUS E1A PROTEINS; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; GENE DELETION; HUMANS; INFANT; PROTO-ONCOGENE PROTEINS; SARCOMA, EWING; SOFT TISSUE NEOPLASMS; TRANSLOCATION, GENETIC;

EID: 84860241638     PISSN: 22107762     EISSN: 22107770     Source Type: Journal    
DOI: 10.1016/j.cancergen.2012.01.007     Document Type: Article

References (35)

1. Khoury J.D. Ewing sarcoma family of tumors. Adv Anat Pathol 2005, 12:212-220.
2. Sandberg A.A., Bridge J.A. Updates on cytogenetics and molecular genetics of bone and soft tissue tumors: Ewing sarcoma and peripheral primitive neuroectodermal tumors. Cancer Genet Cytogenet 2000, 123:1-26.
3. Fletcher C.D.M., Unni K.K., Mertens F. Pathology and Genetics of Tumours of Soft Tissue and Bone 2002, IARCPress, Lyon.
4. Riggi N., Stamenkovic I. The Biology of Ewing sarcoma. Cancer Lett 2007, 254:1-10.
5. Szuhai K., Ijszenga M., de Jong D., et al. The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology. Clin Cancer Res 2009, 15:2259-2268.
6. Shing D.C., McMullan D.J., Roberts P., et al. FUS/ERG gene fusions in Ewing's tumors. Cancer Res 2003, 63:4568-4576.
7. Ng T.L., O'Sullivan M.J., Pallen C.J., et al. Ewing Sarcoma with Novel Translocation t(2;16) Producing an In-Frame Fusion of FUS and FEV. J Mol Diagn 2007, 9:459-463.
8. Kaneko Y., Yoshida K., Handa M., et al. Fusion of an ETS-family gene, EIAF, to EWS by t(17;22)(q12;q12) chromosome translocation in an undifferentiated sarcoma of infancy. Genes Chromosomes Cancer 1996, 15:115-121.
9. Urano F., Umezawa A., Hong W., et al. A novel chimera gene between EWS and E1A-F, encoding the adenovirus E1A enhancer-binding protein, in extraosseous Ewing's sarcoma. Biochem Biophys Res Commun 1996, 219:608-612.
10. Seabright M. A rapid banding technique for human chromosomes. Lancet 1971, 2:971-972.
11. Kojima T., Asami S., Chin M., et al. Detection of chimeric genes in Ewing's sarcoma and its clinical applications. Biol Pharm Bull 2002, 25:991-994.
12. Urano F., Umezawa A., Yabe H., et al. Molecular analysis of Ewing's sarcoma: another fusion gene, EWS-E1AF, available for diagnosis. Jpn J Cancer Res 1998, 89:703-711.
13. Navarro S., Noguera R., Pellin A., et al. Atypical pleomorphic extraosseous ewing tumor/peripheral primitive neuroectodermal tumor with unusual phenotypic/genotypic profile. Diagn Mol Pathol 2002, 11:9-15.
14. Arvand A., Denny C.T. Biology of EWS/ETS fusions in Ewing's family tumors. Oncogene 2001, 20:5747-5754.
15. Higashino F., Yoshida K., Noumi T., et al. Ets-related protein E1A-F can activate three different matrix metalloproteinase gene promoters. Oncogene 1995, 10:1461-1463.
16. Takahashi A., Higashino F., Aoyagi M., et al. EWS/ETS fusions activate telomerase in Ewing's tumors. Cancer Res 2003, 63:8338-8344.
17. Tomlins S.A., Mehra R., Rhodes D.R., et al. TMPRSS2:ETV4 gene fusions define a third molecular subtype of prostate cancer. Cancer Res 2006, 66:3396-3400.
18. Hanzawa M., Shindoh M., Higashino F., et al. Hepatocyte growth factor upregulates E1AF that induces oral squamous cell carcinoma cell invasion by activating matrix metalloproteinase genes. Carcinogenesis 2000, 21:1079-1085.
19. Hattinger C.M., Rumpler S., Strehl S., et al. Prognostic impact of deletions at 1p36 and numerical aberrations in Ewing tumors. Genes Chromosomes Cancer 1999, 24:243-254.
20. Lee J., Hopcus-Niccum D.J., Mulvihill J.J., et al. Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3' EWSR1 gene in a patient with Ewing sarcoma. Cancer Genet Cytogenet 2005, 159:177-180.
21. Savola S., Klami A., Tripathi A., et al. Combined use of expression and CGH arrays pinpoints novel candidate genes in Ewing sarcoma family of tumors. BMC Cancer 2009, 9:17.
22. Seite P., Leroux D., Hillion J., et al. Molecular analysis of a variant 18;22 translocation in a case of lymphocytic lymphoma. Genes Chromosomes Cancer 1993, 6:39-44.
23. Udayakumar A.M., Sundareshan T.S. Cytogenetic characterization of Ewing tumors: further update on 20 cases. Cancer Genet Cytogenet 2002, 133:102-103.
24. Udayakumar A.M., Sundareshan T.S., Goud T.M., et al. Cytogenetic characterization of Ewing tumors using fine needle aspiration samples. a 10-year experience and review of the literature. Cancer Genet Cytogenet 2001, 127:42-48.
25. Obata K., Hiraga H., Nojima T., et al. Molecular characterization of the genomic breakpoint junction in a t(11;22) translocation in Ewing sarcoma. Genes Chromosomes Cancer 1999, 25:6-15.
26. 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.
27. Knuutila S., Armengol G., Bjorkqvist A.M., et al. Comparative genomic hybridization study on pooled DNAs from tumors of one clinical-pathological entity. Cancer Genet Cytogenet 1998, 100:25-30.
28. Armengol G., Tarkkanen M., Virolainen M., et al. Recurrent gains of 1q, 8 and 12 in the Ewing family of tumours by comparative genomic hybridization. Br J Cancer 1997, 75:1403-1409.
29. Brisset S., Schleiermacher G., Peter M., et al. CGH analysis of secondary genetic changes in Ewing tumors: correlation with metastatic disease in a series of 43 cases. Cancer Genet Cytogenet 2001, 130:57-61.
30. Tarkkanen M., Kiuru-Kuhlefelt S., Blomqvist C., et al. Clinical correlations of genetic changes by comparative genomic hybridization in Ewing sarcoma and related tumors. Cancer Genet Cytogenet 1999, 114:35-41.
31. Ordonez J.L., Osuna D., Herrero D., et al. Advances in Ewing's sarcoma research: where are we now and what lies ahead?. Cancer Res 2009, 69:7140-7150.
32. Schwindt H., Akasaka T., Zuhlke-Jenisch R., et al. Chromosomal translocations fusing the BCL6 gene to different partner loci are recurrent in primary central nervous system lymphoma and may be associated with aberrant somatic hypermutation or defective class switch recombination. J Neuropathol Exp Neurol 2006, 65:776-782.
33. Kreil S., Pfirrmann M., Haferlach C., et al. Heterogeneous prognostic impact of derivative chromosome 9 deletions in chronic myelogenous leukemia. Blood 2007, 110:1283-1290.
34. Etienne A., Gelsi-Boyer V., Carbuccia N., et al. Combined translocation with ZNF198-FGFR1 gene fusion and deletion of potential tumor suppressors in a myeloproliferative disorder. Cancer Genet Cytogenet 2007, 173:154-158.
35. Raynaud S., Cave H., Baens M., et al. The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia. Blood 1996, 87:2891-2899.