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Related Experiment Video

Updated: May 11, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

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Published on: September 20, 2016

Somatic STAT3 mutations in large granular lymphocytic leukemia.

Hanna L M Koskela1, Samuli Eldfors, Pekka Ellonen

  • 1Hematology Research Unit Helsinki, Department of Medicine, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

The New England Journal of Medicine
|May 18, 2012
PubMed
Summary

Mutations in the STAT3 gene are common in T-cell large granular lymphocytic leukemia, driving disease development. These STAT3 mutations are linked to neutropenia and rheumatoid arthritis in patients.

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Last Updated: May 11, 2026

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Area of Science:

  • Hematology
  • Molecular Biology
  • Genetics

Background:

  • T-cell large granular lymphocytic leukemia (TLGL) is a rare lymphoproliferative disorder.
  • Characterized by clonal expansion of CD3+CD8+ cytotoxic T lymphocytes (CTLs).
  • Often associated with autoimmune disorders and immune-mediated cytopenias.

Purpose of the Study:

  • To identify somatic mutations in CTLs from patients with TLGL.
  • To investigate the role of STAT3 gene mutations in TLGL pathogenesis.

Main Methods:

  • Next-generation exome sequencing and targeted resequencing.
  • Analysis of CTLs from an index patient and a cohort of 76 TLGL patients.
  • Functional studies of STAT3 mutations in vitro.

Main Results:

  • STAT3 gene mutations identified in 40% of TLGL patients.
  • Recurrent mutations in the SH2 domain (exon 21) including Y640F, D661V, D661Y, and N647I.
  • Mutations led to increased STAT3 transcriptional activity and upregulation of downstream genes (IFNGR2, BCL2L1, JAK2).
  • STAT3 mutations were associated with neutropenia and rheumatoid arthritis.

Conclusions:

  • The SH2 dimerization and activation domain of STAT3 is frequently mutated in TLGL.
  • Aberrant STAT3 signaling is implicated in the pathogenesis of T-cell large granular lymphocytic leukemia.
  • STAT3 mutations may serve as biomarkers for disease subtypes and associated conditions.