ArticleOncotarget2017
Genetic rearrangements result in altered gene expression and novel fusion transcripts in Sézary syndrome.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 48 citations in OpenAlex.
- A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies.Traffic (Copenhagen, Denmark) · 2026Review
- Expressed mutated genes in Sezary syndrome and their potential prognostic value in patients treated with extracorporeal photopheresis.Frontiers in immunology · 2025Article
- HDAC10 and its implications in Sézary syndrome pathogenesis.Frontiers in cell and developmental biology · 2025Article
- Unleashed monocytic engagement in Sézary syndrome during the combination of anti-CCR4 antibody with type I interferon.Blood advances · 2024Article
- Deciphering Tumor Cell Evolution in Cutaneous T-Cell Lymphomas: Distinct Differentiation Trajectories in Mycosis Fungoides and Sézary Syndrome.The Journal of investigative dermatology · 2024Article
- Mogamulizumab Combined with Extracorporeal Photopheresis as a Novel Therapy in Erythrodermic Cutaneous T-cell Lymphoma.Cancers · 2023Article
- Case Report: Giant Thyroid Angiolipoma-Challenging Clinical Diagnosis and Novel Genetic Alterations.Head and neck pathology · 2023Article
- Article
- The implication of next-generation sequencing in the diagnosis and clinical management of non-Hodgkin lymphomas.Frontiers in oncology · 2023Review
- Article
- High expression of TMEM244 is associated with poor overall survival of patients with T-cell lymphoma.Biomarker research · 2022Article
- Review
- Bidirectional regulation of calcium release-activated calcium (CRAC) channel by SARAF.The Journal of cell biology · 2021Article
- Article
- Regulation of Store-Operated CaCells · 2021Review
- Whole-Genome Sequencing of Common Salivary Gland Carcinomas: Subtype-Restricted and Shared Genetic Alterations.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- Mycosis Fungoides and Sézary Syndrome: An Integrative Review of the Pathophysiology, Molecular Drivers, and Targeted Therapy.Cancers · 2021Review
- Current Progress in Investigating Mature T- and NK-Cell Lymphoma Gene Aberrations by Next-Generation Sequencing (NGS).Cancer management and research · 2021Review
- Hypomethylation of the promoter region drives ectopic expression of TMEM244 in Sézary cells.Journal of cellular and molecular medicine · 2020Article
- Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sézary syndrome (SS) is an aggressive, leukemic cutaneous T-cell lymphoma variant. Molecular pathogenesis of SS is still unclear despite many studies on genetic alterations, gene expression and epigenetic regulations. Through whole genome and transcriptome next generation sequencing nine Sézary syndrome patients were analyzed in terms of copy number variations and rearrangements affecting gene expression. Recurrent copy number variations were detected within 8q (MYC, TOX), 17p (TP53, NCOR1), 10q (PTEN, FAS), 2p (DNMT3A), 11q (USP28), 9p (CAAP1), but no recurrent rearrangements were identified. However, expression of five genes involved in rearrangements (TMEM244, EHD1, MTMR2, RNF123 and TOX) was altered in all patients. Fifteen rearrangements detected in Sézary syndrome patients and SeAx resulted in an expression of new fusion transcripts, nine of them were in frame (EHD1-CAPN12, TMEM66-BAIAP2, MBD4-PTPRC, PTPRC-CPN2, MYB-MBNL1, TFG-GPR128, MAP4K3-FIGLA, DCP1A-CCL27, MBNL1-KIAA2018) and five resulted in ectopic expression of fragments of genes not expressed in normal T-cells (BAIAP2, CPN2, GPR128, CAPN12, FIGLA). Our results not only underscored the genomic complexity of the Sézary cancer cell genome but also showed an unpreceded large variety of novel gene rearrangements resulting in fusions transcripts and ectopically expressed genes.
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Registered trials
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