通过G-带和荧光原位杂交鉴定与t(14;19)(q32;q13)/IGH::BCL3相关的多种B细胞肿瘤。

Hitoshi Ohno, Fumiyo Maekawa, Masahiko Hayashida, Miho Nakagawa, Katsuhiro Fukutsuka, Mitsuko Matsumura, Kayo Takeoka, Wataru Maruyama, Naoya Ukyo, Shinji Sumiyoshi, Yasuhiro Tanaka, Hironori Haga
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引用次数: 0

摘要

我们鉴定了5例携带t(14;19)(q32;q13)并产生IGH::BCL3融合基因的B细胞肿瘤。患者年龄在 55 岁至 88 岁之间。其中两名患者是B细胞慢性淋巴细胞白血病(B-CLL)/小淋巴细胞淋巴瘤(SLL)进展或复发,两名患者是非皮质中心B样表型的弥漫大B细胞淋巴瘤(DLBCL),其余一名患者是血管免疫母细胞T细胞淋巴瘤和Epstein-Barr病毒阳性DLBCL复合型患者。荧光原位杂交(FISH)证实了t(14;19)(q32;q13)的存在,显示der(14)t(14;19)上3'IGH和3'BCL3探针共定位,der(19)t(14;19)上5'BCL3和5'IGH探针共定位。一个B-CLL病例的基因型为t(2;14)(p13;q32)/IGH::BCL11A,两个DLBCL病例的基因型为t(8;14)(q24;q32)或t(8;11;14)(q24;q11;q32),这两个病例都通过FISH检测出IGH::MYC,并通过免疫组化检测出MYC和BCL3的核表达。2例B-CLL/SLL病例的IGH::BCL3融合基因经长距离聚合酶链反应扩增,断裂点紧邻BCL3外显子1的5',位于与IGHA1相关的开关区内。这 5 个病例共享 B-CLL 细胞优先使用的 IGHV,但其中 2 个 B-CLL/SLL 病例的基因未发生突变,其余 3 个病例的基因发生了明显突变。带有t(14;19)(q32;q13)的B细胞肿瘤可分为B-CLL/SLL组和DLBCL组,后者中IGH::BCL3的解剖结构可能与前者不同。
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Diverse B-cell tumors associated with t(14;19)(q32;q13)/IGH::BCL3 identified by G-banding and fluorescence in situ hybridization.

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.

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来源期刊
CiteScore
2.00
自引率
6.70%
发文量
25
审稿时长
11 weeks
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