Case report: Identification of atypical mantle cell lymphoma with CCND3 rearrangement by next-generation sequencing

Luomengjia Dai; Han Zhang; Wen Chen; Yi Xia; Shuchao Qin; Yang Shao; Jianyong Li; Yi Miao; Bingzong Li; Huayuan Zhu

doi:10.3389/fonc.2023.1145376

Case report: Identification of atypical mantle cell lymphoma with CCND3 rearrangement by next-generation sequencing

Front Oncol. 2023 Mar 29:13:1145376. doi: 10.3389/fonc.2023.1145376. eCollection 2023.

Authors

Luomengjia Dai^{1

2

3}, Han Zhang⁴, Wen Chen⁵, Yi Xia^{1

2

3}, Shuchao Qin^{1

2

3}, Yang Shao⁶, Jianyong Li^{1

2

3}, Yi Miao^{1

2

3}, Bingzong Li⁴, Huayuan Zhu^{1

2

3}

Affiliations

¹ Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China.
² Pukou Chronic Lymphocytic Leukemia (CLL) Center, Pukou division of Jiangsu Province Hospital, Nanjing, China.
³ Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, China.
⁴ Department of Hematology, the Second Affiliated Hospital of Soochow University, Suzhou, China.
⁵ Department of Pathology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China.
⁶ Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, China.

Abstract

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 CCND3 rearrangement in the patient, which lead to overexpression of cyclin D3, thereby facilitating the diagnosis of MCL.

Keywords: CCND3 rearrangement; NGS; diagnosis; fusion gene; mantle cell lymphoma.

Publication types

Case Reports

Grants and funding

This study was supported by the National Natural Science Foundation of China (Grant No. 82170166, 82100207), the Youth Talent support Project in Jiangsu Province (Grant No. YNRCQN035). Science and Technology Development Fund Project of Pukou Division of Jiangsu Province Hospital (Grant No.KJ2022-1).