ArticleBlood2021
Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity.
Article in Blood, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 2 of them syntheses that pooled it.
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Who cites it
74 citing papers in PubMed, 2 syntheses or guidelines pooled it, 91 citations in OpenAlex.
- A genetic profiling guideline to support diagnosis and clinical management of lymphomas.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024Guideline
- Allogeneic stem cell transplant for treatment of mycosis fungoides and Sezary syndrome: a systematic review and meta-analysis.Bone marrow transplantation · 2024Pooled it
- Phase 2 trial of the farnesyltransferase inhibitor tipifarnib for relapsed/refractory peripheral T-cell lymphoma.Blood advances · 2024Trial
- Hyperprogression of cutaneous T cell lymphoma after anti-PD-1 treatment.JCI insight · 2023Trial
- Cutaneous T Cell Lymphoma: Targeting the Survival Network in Mycosis Fungoides and Sézary Syndrome.Cancers · 2026Review
- Article
- Review
- T cell lymphomas: cancers of aberrant immune synapse signalling.Nature reviews. Immunology · 2026Review
- Regulation of immune checkpoint molecules in cancer immune evasion and therapy.Nature reviews. Cancer · 2026Review
- Article
- IL4Rα blockade inhibits proliferation of malignant lymphocytes and the immunosuppressive tumor microenvironment of mycosis fungoides.Journal for immunotherapy of cancer · 2026Article
- Article
- Emerging Therapeutic Strategies in Cutaneous T-Cell Lymphoma: A Comprehensive Review of Clinical Trials.American journal of clinical dermatology · 2026Review
- Pathway-Centric Comparative Molecular Profiling of Sézary Syndrome and Primary Cutaneous CD8Cancers · 2026Article
- A Conversational Artificial Intelligence Framework for Comparative Pathway-Level Profiling of Sézary Syndrome and Primary Cutaneous CD8medRxiv : the preprint server for health sciences · 2026Article
- Mycosis Fungoides Is a Proliferation of Multiple Mutational Subclones.The Journal of dermatology · 2026Review
- Mimicry in Cutaneous Malignancy-Rare Forms of Mycosis Fungoides as Diagnostic Pitfalls: A Narrative Review.Medicina (Kaunas, Lithuania) · 2026Review
- Conversational Artificial Intelligence-Enabled Molecular Characterization of Sézary Syndrome Reveals Distinct Pathway-Level Alterations Compared with Non-Sézary Cutaneous T-Cell Lymphoma.medRxiv : the preprint server for health sciences · 2026Article
- Fine-tuning BACH2 dosage balances stemness and effector function to enhance antitumor T cell therapy.Nature immunology · 2026Article
- Targeting FOXM1 regulates metabolic signatures through ROS-dependent JNK/Bmi1/Skp2 axis in human cutaneous T-cell lymphoma.Cell death & disease · 2026Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 9 institutions in 2 countries.
Funding
Abstract
Cutaneous T-cell lymphomas (CTCLs) are a clinically heterogeneous collection of lymphomas of the skin-homing T cell. To identify molecular drivers of disease phenotypes, we assembled representative samples of CTCLs from patients with diverse disease subtypes and stages. Via DNA/RNA-sequencing, immunophenotyping, and ex vivo functional assays, we identified the landscape of putative driver genes, elucidated genetic relationships between CTCLs across disease stages, and inferred molecular subtypes in patients with stage-matched leukemic disease. Collectively, our analysis identified 86 putative driver genes, including 19 genes not previously implicated in this disease. Two mutations have never been described in any cancer. Functionally, multiple mutations augment T-cell receptor-dependent proliferation, highlighting the importance of this pathway in lymphomagenesis. To identify putative genetic causes of disease heterogeneity, we examined the distribution of driver genes across clinical cohorts. There are broad similarities across disease stages. Many driver genes are shared by mycosis fungoides (MF) and Sezary syndrome (SS). However, there are significantly more structural variants in leukemic disease, leading to highly recurrent deletions of putative tumor suppressors that are uncommon in early-stage skin-centered MF. For example, TP53 is deleted in 7% and 87% of MF and SS, respectively. In both human and mouse samples, PD1 mutations drive aggressive behavior. PD1 wild-type lymphomas show features of T-cell exhaustion. PD1 deletions are sufficient to reverse the exhaustion phenotype, promote a FOXM1-driven transcriptional signature, and predict significantly worse survival. Collectively, our findings clarify CTCL genetics and provide novel insights into pathways that drive diverse disease phenotypes.
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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.