Whole‐exome sequencing of a patient with primary central nervous system T‐cell lymphoma: Clinicopathological features and genomic profiling. Issue 1 (21st August 2022)

• Record Type: Journal Article
• Authors: Zhao, Xia; Shao, Shihong; Wu, Mingxuan; Zhang, Qian; Wu, Chuanhong; Zhao, Xiangzhong; Bian, Haiyan; Li, Zhiqiang; Gao, Chengwen
• Is Part Of: Neuropathology. Volume 43:Issue 1(2023)
• Page Start: 100
• Page End: 103
• Publication Date: 2022-08-21
• Subjects: ACSS3 -- clinicopathological features -- genomic profiling; Nervous system -- Diseases -- Periodicals; Nervous system -- Pathophysiology -- Periodicals; 616.8047
• DOI: 10.1111/neup.12855
• Languages: English
• ISSNs: 0919-6544

Abstract

Abstract : Primary central nervous system T‐cell lymphoma (T‐PCNSL) is a rare neoplasm, and its underlying genetic features are poorly understood. Herein, we present the case of a 64‐year‐old man with T‐PCNSL who presented with left‐side limb weakness. Brain magnetic resonance imaging revealed a right parietal space‐occupying lesion. Immunohistochemically, the tumor was positive for CD3, CD4, CD5, CD8, and CD56, and the Ki‐67 labeling index was approximately 20%. These pathological features are consistent with those of T‐cell lymphoma. Whole exome sequencing was performed, and we found a variant in the ACSS3 gene that could be related to disease pathogenesis. Our findings may help advance our understanding of the molecular pathogenesis of T‐PCNSL. Further molecular analysis of such cases could help to improve adjuvant molecular diagnostic methods and targeted therapies for T‐PCNSL.