Dai Luomengjia, Zhang Han, Chen Wen, Xia Yi, Qin Shuchao, Shao Yang, Li Jianyong, Miao Yi, Li Bingzong, Zhu Huayuan
Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China.
Pukou Chronic Lymphocytic Leukemia (CLL) Center, Pukou division of Jiangsu Province Hospital, Nanjing, China.
Front Oncol. 2023 Mar 29;13:1145376. doi: 10.3389/fonc.2023.1145376. eCollection 2023.
The t(11;14) (q13;q32) translocation resulting in overexpression of cyclin D1 is the major oncogenic mechanism in mantle cell lymphoma (MCL). Most MCLs can be diagnosed based on morphological features, cyclin D1 expression, and IGH/CCND1 rearrangement. However, in some atypical cases where conventional FISH studies fail to detect IGH/CCND1 rearrangement or immunohistochemistry for cyclin D1 is negative, the diagnosis of the disease can be difficult. Hence, next-generation sequencing (NGS) may allow the identification of molecular alterations and assist in the diagnosis of atypical MCL. In this study, we reported a case of a patient diagnosed as asymptomatic MCL who presented with lymphadenopathy during the initial assessment. A lymph node biopsy was performed and the results revealed a high Ki67 index. However, initial diagnosis of aggressive MCL was difficult since the IGH/CCND1 rearrangement result was negative. Ultimately, by the aid of NGS we identified a rare rearrangement in the patient, which lead to overexpression of cyclin D3, thereby facilitating the diagnosis of MCL.
导致细胞周期蛋白D1过表达的t(11;14)(q13;q32)易位是套细胞淋巴瘤(MCL)的主要致癌机制。大多数MCL可根据形态学特征、细胞周期蛋白D1表达及IGH/CCND1重排进行诊断。然而，在一些非典型病例中，传统荧光原位杂交(FISH)研究未能检测到IGH/CCND1重排或细胞周期蛋白D1免疫组化呈阴性，疾病诊断可能会很困难。因此，二代测序(NGS)可能有助于识别分子改变并辅助非典型MCL的诊断。在本研究中，我们报告了1例初诊时表现为淋巴结病、被诊断为无症状MCL的患者。进行了淋巴结活检，结果显示Ki67指数高。然而，由于IGH/CCND1重排结果为阴性，最初诊断为侵袭性MCL较为困难。最终，借助NGS我们在该患者中鉴定出一种罕见重排，其导致细胞周期蛋白D3过表达，从而有助于MCL的诊断。
