title: Identification of the SOX5 gene as a novel IGH-involved translocation partner in BCL2-negative follicular lymphoma with t(12;14)(p12.2;q32).
abstract: Chromosome translocations involving the immunoglobulin heavy chain (IGH) gene locus at chromosome region 14q32 are often observed in B-cell lymphoid neoplasms. Of these, t(14;18)(q32;q21) results in juxtaposition of the IGH gene on chromosome 14 and the BCL2 gene on chromosome 18, leading to the overexpression of BCL2 anti-apoptotic protein, which plays a critical role in the development of follicular lymphoma (FL). However, BCL2 overexpression is not observed in approximately 10 % of FL, and the molecular pathogenesis of BCL2-negative FL has not been elucidated. Here, we identify the SRY-related high-morbidity-group (HMG) box 5 (SOX5) gene on chromosome 12p12 as a novel IGH-involved translocation partner in the case of BCL2-negative follicular lymphoma (FL) with a complex karyotype including t(12;14)(p12.2;q32) by long-distance inverse PCR. As a result of this translocation, the SOX5 gene is juxtaposed to the enhancer of the IGH gene; SOX5 overexpression in neoplastic cells was demonstrated by immunohistochemistry. The results of the present study suggest a role for SOX5 in the molecular pathogenesis of FL.
authors.affiliation: Department of Hematology, Tokyo Women's Medical University Hospital, 8-1 Kawada-cho, Shinjuku-Ku, Tokyo, 162-8666, Japan. shisekim@dh.twmu.ac.jp.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Shiseki
authors.affiliation: Department of Surgical Pathology, Tokyo Women's Medical University Hospital, Tokyo, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Masuda
authors.affiliation: Department of Hematology, Tokyo Women's Medical University Hospital, 8-1 Kawada-cho, Shinjuku-Ku, Tokyo, 162-8666, Japan.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Yoshinaga
authors.affiliation: Department of Hematology, Tokyo Women's Medical University Hospital, 8-1 Kawada-cho, Shinjuku-Ku, Tokyo, 162-8666, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Mori
authors.affiliation: Department of Hematology, Tokyo Women's Medical University Hospital, 8-1 Kawada-cho, Shinjuku-Ku, Tokyo, 162-8666, Japan.
authors.forename: Michiko
authors.initials: M
authors.lastname: Okada
authors.affiliation: Department of Hematology, Tokyo Women's Medical University Hospital, 8-1 Kawada-cho, Shinjuku-Ku, Tokyo, 162-8666, Japan.
authors.forename: Toshiko
authors.initials: T
authors.lastname: Motoji
authors.affiliation: Department of Hematology, Tokyo Women's Medical University Hospital, 8-1 Kawada-cho, Shinjuku-Ku, Tokyo, 162-8666, Japan.
authors.forename: Junji
authors.initials: J
authors.lastname: Tanaka
mesh_terms: D000368:Aged; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D006801:Humans; D008224:Lymphoma, Follicular / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D019253:Proto-Oncogene Proteins c-bcl-2; D055755:SOXD Transcription Factors / Q000096:biosynthesis / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: C000595707:BCL2 protein, human; D019253:Proto-Oncogene Proteins c-bcl-2; C490301:SOX5 protein, human; D055755:SOXD Transcription Factors
keywords: BCL2; Follicular lymphoma; IGH; SOX5