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Somatic mutations in PLCG1 are found in cutaneous T-cell lymphoma (CTCL), driving T-cell receptor (TCR) signaling and promoting cancer cell growth. Targeting this pathway may offer new therapeutic strategies for CTCL.

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Area of Science:

  • Oncology
  • Molecular Biology
  • Immunology

Background:

  • Cutaneous T-cell lymphoma (CTCL) comprises diverse T-cell lymphoproliferative disorders, including mycosis fungoides and Sézary syndrome.
  • Aggressive forms of CTCL currently lack effective treatments.
  • The molecular underpinnings of CTCL pathogenesis remain largely elusive, despite observed T-cell receptor (TCR) signaling dysregulation in neoplastic cells.

Purpose of the Study:

  • To investigate the molecular alterations in TCR-signaling-related genes in CTCL.
  • To identify specific mutations contributing to CTCL development and progression.
  • To explore the functional consequences of identified mutations on cellular signaling and proliferation.

Main Methods:

  • Massive parallel sequencing of 524 TCR-signaling-related genes in tumor and normal DNA from 11 CTCL patients.
  • Validation of identified variants using capillary sequencing.
  • Quantitative PCR genotyping and immunohistochemical analysis in larger CTCL cohorts.
  • Functional studies to assess the impact of mutations on downstream signaling pathways and cell behavior.

Main Results:

  • Multiple mutations affecting TCR, nuclear factor κB (NF-κB), and Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathways were identified.
  • The PLCG1 gene was found to be mutated in 3 samples, with a specific recurrent mutation (c.1034T>C, S345F) in exon 11 affecting the PLCx catalytic domain.
  • This PLCG1 mutation was present in 19% of a validation cohort of 42 CTCL patients.
  • PLCG1-mutated CTCL cells showed enhanced nuclear factor of activated T cells (NFAT) immunostaining and increased downstream signaling, leading to elevated CTCL cell proliferation and viability.
  • Inhibition of the NFAT pathway reduced CTCL cell proliferation and viability.

Conclusions:

  • Somatic mutations in PLCG1 contribute to aberrant TCR signaling and promote proliferation and survival in CTCL.
  • These findings suggest that PLCG1 mutations and subsequent NFAT pathway activation play a significant role in CTCL pathogenesis.
  • Targeting the PLCG1-NFAT signaling axis presents a potential therapeutic strategy for CTCL patients with these specific mutations.