{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["137(23)"],"submitter":["Pastoret C"],"pubmed_abstract":["Distinguishing chronic lymphoproliferative disorders of NK cells (CLPD-NK) from reactive NK-cell expansion is challenging. We assessed the value of killer immunoglobulin-like receptor(KIR) phenotyping and targeted high-throughput sequencing in a cohort of 114 consecutive patients with NK cell proliferation, retrospectively assigned to a CLPD-NK group (n = 46) and a reactive NK group (n = 68). We then developed an NK-cell clonality score combining flow cytometry and molecular profiling with a positive predictive value of 93%. STAT3 and TET2 mutations were respectively identified in 27% and 34% of the patients with CLPD-NK, constituting a new diagnostic hallmark for this disease. TET2-mutated CLPD-NK preferentially exhibited a CD16low phenotype, more frequently displayed a lower platelet cou"],"journal":["Blood"],"pagination":["3237-3250"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8351897"],"repository":["biostudies-literature"],"pubmed_title":["Linking the KIR phenotype with STAT3 and TET2 mutations to identify chronic lymphoproliferative disorders of NK cells."],"pmcid":["PMC8351897"],"pubmed_authors":["Thannberger A","Veyrat-Masson R","Roussel M","Salaun V","Boulland ML","Pangault C","Fest T","Doncker AV","Lamy T","Le Gallou S","Damaj GL","Moignet A","Desmots F","Pastoret C","Drillet G","Tournilhac O"],"additional_accession":[]},"is_claimable":false,"name":"Linking the KIR phenotype with STAT3 and TET2 mutations to identify chronic lymphoproliferative disorders of NK cells.","description":"Distinguishing chronic lymphoproliferative disorders of NK cells (CLPD-NK) from reactive NK-cell expansion is challenging. We assessed the value of killer immunoglobulin-like receptor(KIR) phenotyping and targeted high-throughput sequencing in a cohort of 114 consecutive patients with NK cell proliferation, retrospectively assigned to a CLPD-NK group (n = 46) and a reactive NK group (n = 68). We then developed an NK-cell clonality score combining flow cytometry and molecular profiling with a positive predictive value of 93%. STAT3 and TET2 mutations were respectively identified in 27% and 34% of the patients with CLPD-NK, constituting a new diagnostic hallmark for this disease. TET2-mutated CLPD-NK preferentially exhibited a CD16low phenotype, more frequently displayed a lower platelet cou","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jun","modification":"2025-04-04T22:33:41.861Z","creation":"2025-02-19T03:23:53.21Z"},"accession":"S-EPMC8351897","cross_references":{"pubmed":["33512451"],"doi":["10.1182/blood.2020006721"]}}