滤泡性淋巴瘤（FL）和弥漫性大B细胞淋巴瘤（DLBCL）并伴有BCL2和IRF4重排的情况很少见。尚不清楚此类病例是否应分类为具有IRF4重排的大B细胞淋巴瘤或FL/DLBCL-未另作说明。我们确定了5名成年患者(FL，N=3和FL/DLBCL，N=2）同时进行BCL2和IRF4重排。演示时的平均年龄为77岁，和三名患者出现晚期疾病。淋巴结和结外部位均受累，受累不仅限于头颈部。中位随访时间为18个月，1例患者死亡，4例患者存活，包括3名接受化疗的患者和1名观察患者。肿瘤在组织学上是异质性的，包括2级和3级FL和DLBCL。4例CD10、BCL6、BCL2和MUM1/IRF4共表达。Ki67标签指数范围为20％至95％。在4名患者中，BCL2重排的细胞百分比等于或略大于IRF4重排的细胞。2例接受了针对淋巴肿瘤量身定制的下一代测序。两者均缺乏涉及IRF4和NF-kB途径基因的突变，这些突变在具有IRF4重排的大B细胞淋巴瘤中经常检测到，1例显示DLBCL-EZH2型突变，包括KMT2D和BCL2突变，与先前报道的2例具有BCL2和IRF4重排的DLBCL相似。具有BCL2和IRF4重排的FL和FL/DLBCL的成年人显示出更类似于FL和DLBCL的临床病理和突变特征，不应被表征为具有IRF4重排的大B细胞淋巴瘤。
Follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL) with concurrent BCL2 and IRF4 rearrangements are rare. It is unclear whether such cases should be classified as large B- cell lymphoma with IRF4 rearrangement or FL/DLBCL-not otherwise specified. We identified 5 adult patients (FL, N = 3 and FL/DLBCL, N = 2) with concurrent BCL2 and IRF4 rearrangements. The median age at presentation was 77 years, and three patients presented with advanced stage disease. Both nodal and extranodal sites were involved and involvement was not limited to head and neck region. With a median follow-up of 18 months, 1 patient died and 4 patients were alive, including 3 who received chemotherapy and 1 who was observed. The neoplasms were histologically heterogeneous, including grade 2 and 3 FL and DLBCL. Four cases coexpressed CD10, BCL6, BCL2 and MUM1/IRF4. The Ki67 labelling index ranged from 20% to 95%. In 4 patients, the percentage of cells with BCL2 rearrangement was equal to or slightly greater than the cells harboring IRF4 rearrangement. Two cases underwent next generation sequencing tailored for lymphoid neoplasms. Both lacked mutations involving IRF4 and NF-kB pathway genes that are frequently detected in large B-cell lymphoma with IRF4 rearrangement, and one case showed DLBCL-EZH2 type mutations, including KMT2D and BCL2 mutations, similar to 2 previously reported DLBCL with BCL2 and IRF4 rearrangements. Adults with FL and FL/DLBCL with BCL2 and IRF4 rearrangements display clinicopathologic and mutational features more akin to FL and DLBCL and should not be characterized as large B-cell lymphoma with IRF4 rearrangement.
