Diverse B-cell tumors associated with t(14;19)(q32;q13)/IGH::BCL3 identified by G-banding and fluorescence in situ hybridization

• Published in: Journal of Clinical and Experimental Hematopathology Vol. 64; no. 1; pp. 21 - 31
• Main Authors: Ohno, Hitoshi, Maekawa, Fumiyo, Hayashida, Masahiko, Nakagawa, Miho, Fukutsuka, Katsuhiro, Matsumura, Mitsuko, Takeoka, Kayo, Maruyama, Wataru, Ukyo, Naoya, Sumiyoshi, Shinji, Tanaka, Yasuhiro, Haga, Hironori
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society for Lymphoreticular Tissue Research 01.01.2024; JSLRT
• Subjects: 19)(q32; Aged; Aged, 80 and over; Chromosomes, Human, Pair 14 - genetics; Epstein-Barr Virus Infections - genetics; Herpesvirus 4, Human; Humans; In Situ Hybridization, Fluorescence; Leukemia, Lymphocytic, Chronic, B-Cell - genetics; Leukemia, Lymphocytic, Chronic, B-Cell - pathology; Lymphoma, Large B-Cell, Diffuse - genetics; Middle Aged; Original; q13)/IGH::BCL3, B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma, diffuse large B-cell lymphoma, fluorescence in situ hybridization, immunohistochemistry; Translocation, Genetic; t; q13)/IGH::BCL3, B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma, diffuse large B-cell lymphoma, fluorescence in situ hybridization, immunohistochemistry; 19)(q32
• ISSN: 1346-4280; 1880-9952
• DOI: 10.3960/jslrt.23053

We characterized 5 B-cell tumors carrying t(14;19)(q32;q13) that creates the IGH::BCL3 fusion gene. The patients’ ages ranged between 55 and 88 years. Two patients presented with progression or recurrence of B-cell chronic lymphocytic leukemia (B-CLL)/small lymphocytic lymphoma (SLL), two with diffuse large B-cell lymphoma (DLBCL) of non-germinal center B-like phenotype, and the remaining one with composite angioimmunoblastic T-cell lymphoma and Epstein-Barr virus-positive DLBCL. The presence of t(14;19)(q32;q13) was confirmed by fluorescence in situ hybridization (FISH), showing colocalization of 3′ IGH and 3′ BCL3 probes on der(14)t(14;19) and 5′ BCL3 and 5′ IGH probes on der(19)t(14;19). One B-CLL case had t(2;14)(p13;q32)/IGH::BCL11A, and 2 DLBCL cases had t(8;14)(q24;q32) or t(8;11;14)(q24;q11;q32), both of which generated IGH::MYC by FISH, and showed nuclear expression of MYC and BCL3 by immunohistochemistry. The IGH::BCL3 fusion gene was amplified by long-distance polymerase chain reaction in 2 B-CLL/SLL cases and the breakpoints occurred immediately 5′ of BCL3 exon 1 and within the switch region associated with IGHA1. The 5 cases shared IGHV preferentially used in B-CLL cells, but the genes were unmutated in 2 B-CLL/SLL cases and significantly mutated in the remaining 3. B-cell tumors with t(14;19)(q32;q13) can be divided into B-CLL/SLL and DLBCL groups, and the anatomy of IGH::BCL3 in the latter may be different from that of the former.