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: Masayuki Shiseki, Akihiro Masuda, Kentaro Yoshinaga, Naoki Mori, Michiko Okada, Toshiko Motoji, Junji Tanaka
• Journal: International journal of hematology (Int J Hematol) Vol. 102 Issue 5 Pg. 633-8 (Nov 2015) ISSN: 1865-3774 [Electronic] Japan
• PMID: 26115875 (Publication Type: Case Reports, Journal Article)

Chemical References

• BCL2 protein, human
• Proto-Oncogene Proteins c-bcl-2
• SOX5 protein, human
• SOXD Transcription Factors

Topics

• Aged
• Chromosomes, Human, Pair 12 (genetics)
• Chromosomes, Human, Pair 14 (genetics)
• Female
• Humans
• Lymphoma, Follicular (genetics, metabolism, pathology)
• Proto-Oncogene Proteins c-bcl-2
• SOXD Transcription Factors (biosynthesis, genetics)
• Translocation, Genetic