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Comprehensive molecular genetic studies of Epstein-Barr virus-negative aggressive Natural killer-cell leukemia/lymphoma

Human Pathology Oct 07, 2020

Gao J, Zhang Y, Yaseen NR, et al. - Researchers conducted comprehensive molecular genetic studies, including chromosomal analysis, fluorescence in situ hybridization, single nucleotide polymorphism microarray, and next-generation sequencing, on 4 patients diagnosed in our institution. The outcomes highlighted that the EBV-negative aggressive NK-cell leukemia/lymphomas (ANKLs) have highly complex genomic profiles defined by near-triploid/near-tetraploid karyotype (3 of 3) with numerous structural abnormalities, inactivation of TP53 (3 of 3), overexpression of c-Myc (4 of 4), strong expression of PD-L1 in neoplastic cells (2 of 4), and gain of the 11q23-ter region (2 of 2). This research serves important insights of EBV-negative ANKL, which share many of the genetic features with their EBV-positive counterpart. The results of this study recognize that strong expression of Programmed death-ligand 1 (PD-L1) implies that immune checkpoint inhibitors may be future explored as a potential therapeutic option for this highly aggressive, chemotherapy-resistant NK-cell neoplasm.

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