ID
45882
Description
Principal Investigator: Teresa Palomero, Columbia University, New York, NY, USA MeSH: Sezary Syndrome,Mycosis Fungoides https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000994 Sezary syndrome is a leukemic and aggressive form of cutaneous T-cell lymphoma (CTCL) resulting from the malignant transformation of skin-homing central memory CD4+ T cells. To identify new genetic alterations involved in Sezary syndrome and CTCL transformation we performed whole-exome sequencing of tumor-normal sample pairs from 26 Sezary syndrome and 16 CTCL patients. These analyses revealed a distinctive pattern of somatic copy number alterations in Sezary syndrome including highly prevalent recurrent chromosomal deletions involving the TP53, RB1, PTEN, DNMT3A, and CDKN1B tumor suppressor genes. Mutation analysis identified a broad spectrum of somatic mutations involving key genes involved in epigenetic regulation (TET2, CREBBP, MLL3, BRD9, SMARCA4 and CHD3) and signaling, including mutations in MAPK1, BRAF, CARD11 and PRKG1 driving increased MAPK, NFKB and NFAT activity upon T-cell receptor stimulation. Collectively, our findings provide new insights into the genetics of Sezary syndrome and CTCL and support the development of personalized therapies targeting key oncogenically activated signaling pathways for the treatment of these diseases.
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Versions (1)
- 11/13/23 11/13/23 - Simon Heim
Copyright Holder
Teresa Palomero, Columbia University, New York, NY, USA
Uploaded on
November 13, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000994 The Mutational Landscape of CTCL and Sezary Syndrome.
Subject ID, consent group, subject source, source subject ID, and affection status of participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
- StudyEvent: SEV1
- Subject ID, consent group, subject source, source subject ID, and affection status of participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable obtained from participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
- Subject ID, age, and sex of participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type, primary or metastatic tumor, primary tumor location, and sequencing center of participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
Similar models
Subject ID, consent group, subject source, source subject ID, and affection status of participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
- StudyEvent: SEV1
- Subject ID, consent group, subject source, source subject ID, and affection status of participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable obtained from participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
- Subject ID, age, and sex of participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type, primary or metastatic tumor, primary tumor location, and sequencing center of participants with or without aggressive form of cutaneous T-cell lymphoma and involved in the "The Mutational Landscape of CTCL and Sezary Syndrome" project.
C0441833 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])