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A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.

Blood cancer journal - 22 Apr 2020

Gasparini Vanessa Rebecca, Binatti Andrea, Coppe Alessandro, Teramo Antonella, Vicenzetto Cristina, Calabretto Giulia, Barilà Gregorio, Barizza Annica, Giussani Edoardo, Facco Monica, Mustjoki Satu, Semenzato Gianpietro, Zambello Renato, Bortoluzzi Stefania

Abstract excerpt

The molecular pathogenesis of chronic lymphoproliferative disorder of natural killer (NK) cells (CLPD-NK) is poorly understood. Following the screening of 57 CLPD-NK patients, only five presented STAT3 mutations. WES profiling of 13 cases negative for STAT3/STAT5B mutations uncovered an average of 18 clonal, population rare and deleterious somatic variants per patient. The mutational landscape of CLPD-NK showed...

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Aged
Biomarkers, Tumor
Clonal Evolution
Exome Sequencing
Killer Cells, Natural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lymphoproliferative Disorders

STAT3 Transcription Factor

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Identifiers

PMID: 32321919
DOI: 10.1038/s41408-020-0309-2
PMCID: PMC7176632

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