Wang Huan-You, Sokol Ethan S, Goodman Aaron M, Feldman Andrew L, Mulroney Carolyn M
Division of Laboratory and Genomic Medicine, Department of Pathology, University of California San Diego Health System, La Jolla, CA, United States.
Foundation Medicine, Cambridge, MA, United States.
Front Oncol. 2021 Mar 10;11:620435. doi: 10.3389/fonc.2021.620435. eCollection 2021.
The pathogenesis of follicular lymphoma is a multi-step process, in which chromosomal translocation between immunoglobulin heavy chain (IgH) and anti-apoptotic B-cell lymphoma 2 (BCL2), namely IgH-BCL2, is an earliest step, followed by other genetic/genomic alterations including but not limited to mutation of CREB binding protein (CREBBP). MHC class II transactivator (CIITA) is a transcription regulator responsible for expression of MHC class II molecules including HLA-DR in human. We report herein a novel fusion gene involving CIITA and CREBBP in a patient with a low-grade follicular lymphoma (FL) but with high Ki-67 proliferation index. In addition, our patient also harbors CREBBP mutation. Together, we postulate that total loss of CREBBP function may contribute, in part, to the lymphoma genesis. Furthermore, this patient has addition rare (TBL1XR1-TP63) and common (IgH-BCL2) chromosomal translocations and multiple mutations including , and .
滤泡性淋巴瘤的发病机制是一个多步骤过程，其中免疫球蛋白重链（IgH）与抗凋亡的B细胞淋巴瘤2（BCL2）之间的染色体易位，即IgH-BCL2，是最早的步骤，随后是其他遗传/基因组改变，包括但不限于CREB结合蛋白（CREBBP）的突变。MHC II类反式激活因子（CIITA）是一种转录调节因子，负责人类中包括HLA-DR在内的MHC II类分子的表达。我们在此报告了一例低级别滤泡性淋巴瘤（FL）但Ki-67增殖指数高的患者中涉及CIITA和CREBBP的一种新型融合基因。此外，我们的患者还存在CREBBP突变。我们共同推测，CREBBP功能的完全丧失可能部分促成淋巴瘤的发生。此外，该患者还存在另外罕见的（TBL1XR1-TP63）和常见的（IgH-BCL2）染色体易位以及多种突变，包括 ，以及 。
