背景:一些研究报道了并发滤泡性淋巴瘤(FL)和弥漫性大B细胞淋巴瘤(DLBCL),而由FL/DLBCL转化的MYC和BCL2重排(“双重命中”)的TdT(末端脱氧核苷酸转移酶)阳性高级别B细胞淋巴瘤(HGBL)的诊断很少报道。在这里,我们描述了1例FL/DLBCL治疗后诊断为TdT阳性\"双命中\"HGBL的病例的临床特征和突变谱.
方法:这是一名43岁的中国男性,在IVB阶段被诊断为低度FL(占80%)合并DLBCL(20%)。患者出现BCL2/IGH易位,无MYC重排,以及最初诊断FL/DLBCL时CD20,CD19,CD10和BCL2的表达。治疗后发生MYC重排和TdT表达。靶向测序揭示了KMT2D中的突变,FOXO1,CREBBP,ATM,STAT6,BCL7A,DDX3X,MUC4,FGFR3,ARID5B,DDX11和PRKCSH基因是FL/DLBCL和TdT阳性“双重打击”HGBL共有的共突变,而CCND3、BIRC6、ROBO1和CHEK2突变在治疗后特异性发生。初次诊断FL/DLBCL和TdT阳性“双重打击”HGBL后,总生存时间分别为37.8和17.8个月,分别。
结论:本研究报告了一例罕见的在并发FL/DLBCL治疗后出现TdT阳性“双重打击”HGBL的病例,并突出了突变特征。总的来说,本研究将有助于丰富FL/DLBCL转化的TdT阳性“双命中”HGBL的知识。
BACKGROUND: Concurrent follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL)was reported in some studies, while the diagnosis of TdT (terminal deoxynucleotydil transferase) positive high grade B cell lymphoma (HGBL) with MYC and BCL2 rearrangements (\"double hit\") transformed from FL/DLBCL has been rarely reported. Herein, we described the clinical features and mutation profiles of a case diagnosed with TdT positive \"double hit\" HGBL following the treatment of FL/DLBCL.
METHODS: This is a 43-year-old Chinese man who was diagnosed with low grade FL (account for 80%) combined with DLBCL (20%) at a stage of IVB. The patient presented with BCL2/IGH translocation without MYC rearrangement, as well as the expressions of CD20, CD19, CD10 and BCL2 at the initial diagnosis of FL/DLBCL. MYC rearrangement and TdT expression occurred after the treatment. The targeted sequencing revealed mutations in KMT2D, FOXO1, CREBBP, ATM, STAT6, BCL7A, DDX3X, MUC4, FGFR3, ARID5B, DDX11 and PRKCSH genes were the co-mutations shared by the FL/DLBCL and TdT positive \"double hit\" HGBL, while CCND3, BIRC6, ROBO1 and CHEK2 mutations specifically occurred after the treatment. The overall survival time was 37.8 and 17.8 months after the initial diagnosis of FL/DLBCL and TdT positive \"double hit\" HGBL, respectively.
CONCLUSIONS: This study reports a rare case of TdT positive \"double hit\" HGBL following the treatment of concurrent FL/DLBCL and highlights the mutation characteristics. Collectively, this study will help enrich the knowledge of TdT positive \"double hit\" HGBL transformed from FL/DLBCL.