Liu H Y, Liu S X, Wang X W, Wang B, Wang X H, Yu F, Li Z L, Zhong D R
Department of Pathology, ChinaJapan Friendship Hospital, Beijing 100029, China.
Department of Hematology, ChinaJapan Friendship Hospital, Beijing 100029, China.
Zhonghua Xue Ye Xue Za Zhi. 2024 Sep 14;45(9):821-826. doi: 10.3760/cma.j.cn121090-20240424-00160.
To investigate the clinicopathological features and genetic mutation status of pulmonary intravascular large B cell lymphoma. The clinicopathological data of eight patients diagnosed with pulmonary intravascular large B cell lymphoma, from April 2018 to May 2023, were retrospectively analyzed. The genetic profile of six patients was detected via next-generation sequencing (NGS) and followed up. All patients included one male and seven females, with a median age of 64 years (ranging from 45 to 66 years). Respiratory symptoms were the most common (7 cases), B symptoms in two cases, hemophagocytic syndrome in two cases. Multiple diffuse ground-glass opacities in both lungs were observed based on the high-resolution chest CT scan. Six cases of mild to moderate ventilation or diffusion dysfunction were observed based on the pulmonary function tests. Moreover, two cases of hypoxemia and two cases with type Ⅰ respiratory failure were recorded. The serum lactate dehydrogenase level increased (7/8), β2-MG level increased (2/8), neuron-specific enolase level increased (7/8), total number of peripheral blood lymphocytes decreased (7/8), and clinical stages were all stage Ⅳ. The neoplastic lymphoid cells were lodged in the lumina of venules and capillaries of the alveolar septum; the tumor cells were large, with prominent nucleoli and frequent mitotic figures. The malignant cells were detected in the extravascular surrounding lung tissue in all cases. The tumor cells expressed mature B cell-associated antigens CD20 and CD79a, and the vascular endothelial markers CD31 and CD34 showed that the tumor cells were filled in the blood vessels, infiltrated blood vessel walls, and perivascular areas. One case was germinal center-type, seven cases were non-germinal center-type, two cases were double-expressing lymphoma, and all cases were EBER-negative. Furthermore, the top five genes with mutation frequencies detected by NGS were MYD88 (5/6), PIM1 (5/6), CD79B (4/6), TCF3 (4/6), and TP53 (3/6). Of the eight cases, seven patients received R-CHOP-based chemotherapy, six cases had complete remission after chemotherapy, one case died, and one case was lost to follow-up. Pulmonary vascular large B cell lymphoma is rare, which shares similar patterns with interstitial lung disease on imaging. Transbronchial lung biopsy is an effective method to confirm the diagnosis. Immunochemotherapy with BTK inhibitors can provide a survival advantage for patients in the future based on molecular typing.
探讨肺血管内大B细胞淋巴瘤的临床病理特征及基因突变状态。回顾性分析2018年4月至2023年5月期间确诊为肺血管内大B细胞淋巴瘤的8例患者的临床病理资料。对6例患者进行二代测序（NGS）检测基因谱并进行随访。所有患者中男性1例，女性7例，中位年龄64岁（45至66岁）。呼吸道症状最为常见（7例），B症状2例，噬血细胞综合征2例。高分辨率胸部CT扫描显示双肺多发弥漫性磨玻璃影。肺功能检查显示6例存在轻度至中度通气或弥散功能障碍。此外，记录到2例低氧血症和2例Ⅰ型呼吸衰竭。血清乳酸脱氢酶水平升高（7/8），β2微球蛋白水平升高（2/8），神经元特异性烯醇化酶水平升高（7/8），外周血淋巴细胞总数减少（7/8），临床分期均为Ⅳ期。肿瘤性淋巴细胞位于肺泡间隔小静脉和毛细血管腔内；肿瘤细胞大，核仁明显，有丝分裂象常见。所有病例在血管外周围肺组织均检测到恶性细胞。肿瘤细胞表达成熟B细胞相关抗原CD20和CD79a，血管内皮标志物CD3l和CD34显示肿瘤细胞充满血管、浸润血管壁及血管周围区域。1例为生发中心型，7例为非生发中心型，2例为双表达淋巴瘤，所有病例EBER均为阴性。此外，NGS检测到的突变频率前五位的基因分别为MYD88（5/6）、PIM1（5/6）、CD79B（4/6）、TCF3（4/6）和TP53（3/6）。8例患者中，7例接受了以R-CHOP为基础的化疗，6例化疗后完全缓解，1例死亡，1例失访。肺血管大B细胞淋巴瘤罕见，影像学表现与间质性肺疾病有相似之处。经支气管肺活检是确诊的有效方法。基于分子分型，使用BTK抑制剂的免疫化疗未来可为患者提供生存优势。
