A novel PLAG1-RAD51L1 gene fusion resulting from a t(8;14)(q12;q24) in a case of lipoblastoma

Cancer Genetics

Volumn 206, Issue 6, 2013, Pages 233-237

  Deen, Mazin ^a   Ebrahim, Salah ^a   Schloff, Debbie ^a   Mohamed, Anwar N ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

14q24; 8q12; Lipoblastoma; PLAG1; RAD51L1

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME 8Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 14; CHROMOSOME TRANSLOCATION 8; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FUSION; GENE MAPPING; HEAD AND NECK SURGERY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; LIPOBLASTOMA; MALE; NECK TUMOR; NUCLEAR MAGNETIC RESONANCE IMAGING; PLAG1 RAD51L1 GENE; PRIORITY JOURNAL;

14Q24; 8Q12; LIPOBLASTOMA; PLAG1; RAD51L1;

CYTOGENETIC ANALYSIS; DNA-BINDING PROTEINS; HEAD AND NECK NEOPLASMS; HUMANS; INFANT; LIPOBLASTOMA; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; ONCOGENE PROTEINS, FUSION; TRANSLOCATION, GENETIC;

EID: 84884152657     PISSN: 22107762     EISSN: 22107770     Source Type: Journal    
DOI: 10.1016/j.cancergen.2013.05.019     Document Type: Article

References (20)

1. Collins M.H., Chatten J. Lipoblastoma/lipoblastomatosis: a clinicopathologic study of 25 tumors. Am J Surg Pathol 1997, 21:1131-1137.
2. World Health Organization classification of tumours. pathology and genetics of tumours of soft tissue and bone 2002, 26-27. Internaltional Agency for Research on Cancer (IARC) Press, Lyon. C.D.M. Fletcher, K.K. Unni, F. Mertens (Eds.).
3. Fletcher J.A., Kozakewich H.P., Schoenberg M.L., et al. Cytogenetic findings in pediatric adipose tumors: consistent rearrangement of chromosome 8 in lipoblastoma. Genes Chromosomes Cancer 1993, 6:24-29.
4. Dal Cin P., Sciot R., De Wever I., et al. New discriminative chromosomal marker in adipose tissue tumors. The chromosome 8q11-q13 region in lipoblastoma. Cancer Genet Cytogenet 1994, 78:232-235.
5. Nishio J. Contributions of cytogenetics and molecular cytogenetics to the diagnosis of adipocytic tumors. J Biomed Biotechnol 2011, 1-9. Article ID 524067.
6. Gisselsson D., Hibbard M.K., Dal Cin P., et al. PLAG1 alterations in lipoblastoma: involvement in varied mesenchymal cell types and evidence for alternative oncogenic mechanisms. Am J Pathol 2001, 159:955-962.
7. Meloni-Ehrig A.M., Riggott L., Christacos N.C., et al. A case of lipoblastoma with seven copies of chromosome 8. Cancer Genet Cytogenet 2009, 190:49-51.
8. Morerio C., Rapella A., Rosanda C., et al. PLAG1-HAS2 fusion in lipoblastoma with masked 8q intrachromosomal rearrangement. Cancer Genet Cytogenet 2005, 156:183-184.
9. Hibbard M.K., Kozakewich H.P., Dal Cin P., et al. PLAG1 fusion oncogenes in lipoblastoma. Cancer Res 2000, 60:4869-4872.
10. Brandal P., Bjerkehagen B., Heim S. Rearrangement of chromosomal region 8q11-13 in lipomatous tumours: correlation with lipoblastoma morphology. J Pathol 2006, 208:388-394.
11. Bartuma H., Domanski H.A., Von Steyern F.V., et al. Cytogenetic and molecular cytogenetic findings in lipoblastoma. Cancer Genet Cytogenet 2008, 183:60-63.
12. ISCN: an international system for human cytogenetic nomenclature 2009, Karger, Basel. L.G. Shaffer, M.L. Slovak, L.J. Campbell (Eds.).
13. Somerhausen N.A., Coindre J.M., Bebiec-Rychter M., et al. Lipoblastoma in adolescents and young adults: report of six cases with FISH analysis. Histopathology 2008, 52:294-298.
14. Matsuyama A., Hisaoka M., Hashimoto H. PLAG1 expression in mesenchymal tumors: an immunohistochemical study with special emphasis on the pathogenetical distinction between soft tissue myoepithelioma and pleomorphic adenoma of the salivary gland. Pathol Int 2012, 62:1-7.
15. Kas K., Voz M.L., Roijer E., et al. Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations. Nat Genet 1997, 15:170-174.
16. Stenman G. Fusion oncogenes and tumor type specificity-insights from salivary gland tumors. Semin Cancer Biol 2005, 15:224-235.
17. Flake G.P., Andersen J., Dixon D. Etiology and pathogenesis of uterine leiomyomas: a review. Environ Health Persp 2003, 111:1037-1054.
18. Medikare V., Kandukuri L.R., Ananthapur V., et al. The genetic bases of uterine fibroids; a review. J Reprod Infertil 2011, 12:181-191.
19. Rice M.C., Smith S.T., Bullrich F., et al. Isolation of human and mouse genes based on homology to REC2, a combinational repair gene from the fungus Ustilago maydis. Proc Natl Acad Sci U S A 1997, 94:7417-7422.
20. Havre P.A., Rice M., Ramos R., et al. HsRec2/Rad51L1, a protein influencing cell cycle progression, has protein kinase activity. Exp Cell Res 2000, 254:33-44.