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Genomic landscape and PD-1 blockade in Natural-killer/T cell lymphoma

Natural killer/T-cell lymphoma (NKTL) is an aggressive malignancy with a predilection for Asian, Mexican and South American populations. With the exception of Japan, it is the most common mature T-cell lymphoma in Asia. NKTL presents as extranodal disease and mostly affects the upper aerodigestive tract. Neoplastic cells are invariably infected by the Epstein-Barr virus (EBV) and characterized by a cytotoxic phenotype. The genetic landscape of NKTL has been recently unraveled by discoveries describing recurring mutations altering the JAK-STAT pathway, epigenetic modifiers, the DDX3X gene and genetic predisposition in the HLA-DPB1 gene.The genomic landscape of NKTL has been interrogated by whole-exome sequencing, targeted sequencing and single nucleotide polymorphism arrays, but has yet been studied with whole-genome sequencing (WGS). In this study, we will use a combination of WGS, targeted-capture sequencing (TCS) and RNA sequencing data to explore the genetic landscape and its relevance to immunotherapy in NKTL

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003271 Illumina HiSeq 2000 102
EGAD00001004140 HiSeq X Ten Illumina HiSeq 2000 Illumina NovaSeq 6000 34
EGAD00001005230 HiSeq X Ten Illumina HiSeq 2000 Illumina HiSeq 2500 36
EGAD00001005231 HiSeq X Ten Illumina HiSeq 2000 120
EGAD00001005303 Illumina NovaSeq 6000 214
Publications Citations
Whole-genome sequencing identifies responders to Pembrolizumab in relapse/refractory natural-killer/T cell lymphoma.
Leukemia 34: 2020 3413-3419
38
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression.
Genome Med 16: 2024 48
0