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Cancer Genet. 2017 Aug;214-215:26-31. doi: 10.1016/j.cancergen.2017.03.009. Epub 2017 Apr 4.

The novel double-hit, t(8;22)(q24;q11)/MYC-IGL and t(14;15)(q32;q24)/IGH-BCL2A1, in diffuse large B-cell lymphoma.

Author information

1
Department of Hematology, Tenri Hospital, Japan. Electronic address: akasaka@tenriyorozu.jp.
2
Tenri Institute of Medical Research, Japan.
3
Department of Diagnostic Pathology, Tenri Hospital, Japan.
4
Department of Hematology, Tenri Hospital, Japan; Tenri Institute of Medical Research, Japan.

Abstract

An 82-year-old woman presented with generalized lymphadenopathy and skin involvement. Lymph node biopsy revealed diffuse large B-cell lymphoma with a high proliferation index. G-banding and fluorescence in situ hybridization showed a hypertetraploid karyotype with two copies of t(8;22)(q24;q11), generating the fusion of MYC and the immunoglobulin λ chain gene (IGL), and two copies of the novel immunoglobulin heavy chain gene (IGH) translocation, t(14;15)(q32;q24). A long-distance inverse polymerase chain reaction (PCR) using nested primer combinations designed for each constant gene of IGH showed that Cγ4 was juxtaposed to the downstream sequence of the BCL2A1 (BCL2-related protein A1) gene through the Sγ4 switch region. As a result of t(14;15)(q32;q24), BCL2A1 and IGH Sγ4-Cγ4 were aligned in the same transcriptional orientation at a distance of 64 kb. Reverse transcriptase-mediated PCR showed high BCL2A1 mRNA levels in a lymphoma specimen. Since BCL2A1, mapped at 15q24.3 or 15q25.1, encodes a protein that is an anti-apoptotic member of the BCL2 protein family, we herein described the novel double-hit, t(8;22)(q24;q11)/MYC-IGL and t(14;15)(q32;q24)/IGH-BCL2A1, in which BCL2A1 is considered to play a role equivalent to that of BCL2 in the most frequent double-hit, MYC/BCL2.

KEYWORDS:

BCL2A1; Double-hit lymphoma; MYC; anti-apoptotic protein; long-distance inverse PCR

PMID:
28595732
DOI:
10.1016/j.cancergen.2017.03.009
[Indexed for MEDLINE]

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