Title: PLAG1-HAS2 fusion in lipoblastoma with masked 8q intrachromosomal rearrangement
Abstract: Lipoblastomas are rare benign tumors of white fat tissue characteristic of children younger than 3 years [ [1] Chun Y.S. Kim W.K. Park K.-W. Lee S.C. Jung S.E. Lipoblastoma. J Pediatr Surg. 2001; 36: 905-907 Abstract Full Text Full Text PDF PubMed Scopus (78) Google Scholar ]. Surgery is the only treatment, and local recurrence is possible. A clonal chromosomal rearrangement occurs in the 8q11∼q13 region, which is uncommon in other types of adipose tumors, namely lipoma and liposarcoma [ 2 Chen Z. Coffin C.M. Scott S. Meloni-Ehrig A. Shepard R. Issa B. Forsyth D.R. Sandberg A.A. Brothman A.R. Lowichik A. Evidence by spectral karyotyping that 8q11.2 is nonrandomly involved in lipoblastoma. J Mol Diagn. 2000; 2: 73-77 Abstract Full Text Full Text PDF PubMed Scopus (30) Google Scholar , 3 Sandberg A.A. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: lipoma. Cancer Genet Cytogenet. 2004; 150: 93-115 Abstract Full Text Full Text PDF PubMed Scopus (70) Google Scholar ]. Two groups have separately demonstrated the involvement of the developmentally regulated zinc finger gene pleomorphic adenoma gene 1 (PLAG1) in lipoblastoma [ 4 Hibbard M.K. Kozakewich H.P. Dal Cin P. Sciot R. Tan X. Xiao S. Fletcher J. PLAG1 Fusion oncogenes in lipoblastoma. Cancer Res. 2000; 60: 4869-4872 PubMed Google Scholar , 5 Astrom A.-K. D'Amore E.S.G. Sainati L. Panarello C. Morerio C. Mark J. Stenman G. Evidence of involvement of the PLAG1 gene in lipoblastomas. Int J Oncol. 2000; 16: 1107-1110 PubMed Google Scholar ]. The 8q12 rearrangement results in a promoter-swapping event, whereby the PLAG1 promoter element is replaced by promoting regions from other genes, notably hyaluronic acid synthase 2 (HAS2) or collagen 1 α 2 (COL1A2), thus determining up-regulation of PLAG1 gene expression [ [4] Hibbard M.K. Kozakewich H.P. Dal Cin P. Sciot R. Tan X. Xiao S. Fletcher J. PLAG1 Fusion oncogenes in lipoblastoma. Cancer Res. 2000; 60: 4869-4872 PubMed Google Scholar ]. Furthermore, nonrearranged PLAG1 lipoblastomas could entail an alternative oncogenic mechanism involving PLAG1 copy number gains [ [6] Gisselsson D. Hibbard M.K. Dal Cin P. Sciot R. Hsi B.-L. Kozakewich H.P. Fletcher J.A. PLAG1 alterations in lipoblastoma. Am J Pathol. 2001; 159: 955-962 Abstract Full Text Full Text PDF PubMed Scopus (110) Google Scholar ]. In the present report, we describe the molecular cytogenetic study of a case in which the peculiar chromosome 8 rearrangement and consequent PLAG1 involvement were masked by a complex translocation among 3 chromosomes.
Publication Year: 2005
Publication Date: 2005-01-01
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 45
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