Recurrent Mutations Of The C-C Motif Chemokine Ligand 22 (Ccl22) Define A Distinct Subgroup Of Chronic Lymphoproliferative Disorder Of Nk Cells (Clpd-Nk)

BLOOD(2020)

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摘要
Background: The pathogenesis of chronic lymphoproliferative disorder of NK-cells (CLPD-NK) is poorly understood. Mutations in the JAK/STAT pathway (especially STAT3) are found in 30% of patients, but the genetic or exogenous drivers responsible for other cases are unknown. Here we comprehensively define the genetic drivers of CLPD-NK by integrated genome and transcriptome sequencing (WGS/WTS) of a large cohort of cases and complementary functional analyses.
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