ArticleNature communications2015
Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 115 papers.
What it found
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Who cites it
115 citing papers in PubMed, 200 citations in OpenAlex.
- Sequential lymphoid neoplasms mimicking relapse of mediastinal grey zone lymphoma in a patient with germline variants in EP300 and PTPRK.Virchows Archiv : an international journal of pathology · 2026Article
- Review
- T cell lymphomas: cancers of aberrant immune synapse signalling.Nature reviews. Immunology · 2026Review
- JAK-STAT signaling pathway in cancer: from molecular mechanisms to clinical intervention.Molecular cancer · 2026Review
- Emerging Therapeutic Strategies in Cutaneous T-Cell Lymphoma: A Comprehensive Review of Clinical Trials.American journal of clinical dermatology · 2026Review
- Cellular and molecular aberrations generating new immunotherapeutic approaches in mycosis fungoides and Sézary syndrome: a comprehensive review of literature.Frontiers in immunology · 2026Review
- IQDMA disrupts STAT5 nuclear transport through CDC42-PAK2 axis collapse in cutaneous T-cell lymphoma.Frontiers in immunology · 2026Article
- Co-expression of CD30 and SLFN11 serves as a dual biomarker for the treatment of cutaneous T-cell lymphoma.NAR cancer · 2025Article
- CDK9 is a dependency in GATA-3 driven and MCL-1 independent T-cell Lymphomas.Blood cancer journal · 2025Article
- Angiogenesis and lymphangiogenesis in primary cutaneous lymphomas: a narrative review.Clinical and experimental medicine · 2025Review
- Expressed mutated genes in Sezary syndrome and their potential prognostic value in patients treated with extracorporeal photopheresis.Frontiers in immunology · 2025Article
- Janus kinase inhibitors - a role for the treatment of cutaneous T-cell lymphomas?Oncology reviews · 2025Review
- Romidepsin and Afatinib Abrogate Jak-Signal Transducer and Activator of Transcription Signaling and Elicit Synergistic Antitumor Effects in Cutaneous T-Cell Lymphoma.The Journal of investigative dermatology · 2024Article
- Article
- RuBi-Ruxolitinib: A Photoreleasable Antitumor JAK Inhibitor.Journal of the American Chemical Society · 2024Article
- Unraveling the Mechanisms of PD-1 Regulation in Sézary Syndrome: Epigenetic Regulation as Potential Mechanism?The Journal of investigative dermatology · 2023Article
- TCR Pathway Mutations in Mature T Cell Lymphomas.Journal of immunology (Baltimore, Md. : 1950) · 2023Review
- Interplay between epigenetic and genetic alterations in inborn errors of immunity.Trends in immunology · 2023Review
- Sézary syndrome originates from heavily mutated hematopoietic progenitors.Blood advances · 2023Article
- Extranodal lymphoma: pathogenesis, diagnosis and treatment.Molecular biomedicine · 2023Review
55 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
Sézary syndrome (SS) is an aggressive leukaemia of mature T cells with poor prognosis and limited options for targeted therapies. The comprehensive genetic alterations underlying the pathogenesis of SS are unknown. Here we integrate whole-genome sequencing (n=6), whole-exome sequencing (n=66) and array comparative genomic hybridization-based copy-number analysis (n=80) of primary SS samples. We identify previously unknown recurrent loss-of-function aberrations targeting members of the chromatin remodelling/histone modification and trithorax families, including ARID1A in which functional loss from nonsense and frameshift mutations and/or targeted deletions is observed in 40.3% of SS genomes. We also identify recurrent gain-of-function mutations targeting PLCG1 (9%) and JAK1, JAK3, STAT3 and STAT5B (JAK/STAT total ∼11%). Functional studies reveal sensitivity of JAK1-mutated primary SS cells to JAK inhibitor treatment. These results highlight the complex genomic landscape of SS and a role for inhibition of JAK/STAT pathways for the treatment of SS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.