Objective: To investigate the translocations of MYC, bcl-2 and bcl-6 genes, the Epstein-Barr virus (EBV) status and the clinicopathological features of primary cardiac large B cell lymphoma (LBCL). Methods: Seven cases of primary cardiac LBCL were collected at Beijing Friendship Hospital, Capital Medical University, China from February 2013 to May 2019. The clinical feature, pathological morphology and immunophenotype were analyzed. The detections of EBV and gene rearrangements of MYC, bcl-2 and bcl-6 were conducted. The 2017 WHO classification of tumors of haematopoietic and lymphoid tissues was used to classify the tumors. Results: Four patients with right atrial lesions showed diffuse infiltration of medium size lymphoid cells with small vascular hyperplasia, without evidence of EBV infection. Without detectable gene rearrangements of MYC and bcl-2, 2 of the patients showed bcl-6 gene break-apart. The diagnosis was revised from diffuse LBCL to high-grade B-cell lymphoma, not otherwise specified (HGBL-NOS). There was a case of CD5+ diffuse LBCL involving the right atrium and ventricle and 2 cases of fibrin-associated diffuse LBCL located at left atrium without gene rearrangements of MYC, bcl-2 and bcl-6. However, EBER and EBNA2 were highly expressed in fibrin-associated diffuse LBCL. The patients were followed up for 10-71 months. Four cases of HGBL-NOS and a case of CD5+ diffuse LBCL received R-CHOP with/without autologous stem cell transplantation. All but two patients survived. Two cases of fibrin-associated diffuse LBCL were disease free without adjuvant chemotherapy and radiotherapy. Conclusions: Primary cardiac LBCL is heterogeneous, including at least HGBL-NOS. Primary cardiac HGBL-NOS most frequently occurs in the right atrium. Tumor cells of primary cardiac LBCL have the morphological characteristics similar to Burkitt lymphoma, lacking MYC and bcl-2 gene rearrangements, but usually show bcl-6 gene disruption. Fibrin-associated diffuse LBCL has a good prognosis and postoperative chemotherapy seems unnecessary.
目的： 探讨原发心脏大B细胞淋巴瘤（large B cell lymphoma，LBCL）MYC、bcl-2、bcl-6基因特征和EB病毒感染情况，以及相关的临床病理特征。 方法： 收集首都医科大学附属北京友谊医院病理科2013年2月至2019年5月会诊的7例原发心脏LBCL，分析7例原发心脏LBCL的临床特征、病理形态及免疫表型，完善EB病毒检测和MYC、bcl-2、bcl-6的荧光原位杂交（FISH）检测，并应用2017版WHO淋巴造血组织肿瘤分类修正诊断。 结果： 7例原发心脏LBCL患者中，4例右心房病变以中等大小淋巴样细胞弥漫浸润伴小血管增生，缺乏EB病毒感染，均未见MYC和bcl-2基因断裂，2例出现bcl-6基因断裂，由最初弥漫LBCL（DLBCL）诊断修正为非特殊类型高级别B细胞淋巴瘤（HGBL-NOS）。1例累及右侧心房心室的CD5+ DLBCL和2例发生于左心房的纤维素相关DLBCL，均缺乏MYC、bcl-2和bcl-6基因断裂，但纤维素相关DLBCL的肿瘤细胞大量表达EB病毒编码的RNA和EBNA2。所有病例随访10~71个月。4例HGBL-NOS和1例CD5+ DLBCL行R-CHOP化疗伴/不伴自体干细胞移植，2例患者死亡，其余均存活；2例纤维素相关DLBCL患者未行放化疗长期无病生存。 结论： 原发心脏LBCL也存在异质性，至少包括HGBL-NOS类型，好发于右心房，形态学类似于Burkitt淋巴瘤，缺乏MYC和bcl-2基因断裂，常出现bcl-6基因断裂。纤维素相关DLBCL预后良好，术后不一定要进行化疗。.