Whole-exome sequencing of a patient with primary central nervous system T-cell lymphoma: Clinicopathological features and genomic profiling

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.