دورية أكاديمية
Angioimmunoblastic T cell lymphoma: novel molecular insights by mutation profiling
| العنوان: | Angioimmunoblastic T cell lymphoma: novel molecular insights by mutation profiling |
|---|---|
| المؤلفون: | Wang, Ming, Zhang, Shaowei, Chuang, Shih-Sung, Ashton-Key, Margaret, Ochoa, Eguzkine, Bolli, Niccolo, Vassiliou, George, Gao, Zifen, Du, Ming-Qing |
| المساهمون: | Du, MQ (reprint author), Univ Cambridge, Dept Pathol, Div Mol Histopathol, Cambridge, England., Gao, ZF (reprint author), Peking Univ, Hlth Sci Ctr, Dept Pathol, Beijing, Peoples R China., Univ Cambridge, Dept Pathol, Div Mol Histopathol, Cambridge, England., Peking Univ, Hlth Sci Ctr, Dept Pathol, Beijing, Peoples R China., Chi Mei Med Ctr, Dept Pathol, Tainan, Taiwan., Southampton Univ Hosp, Natl Hlth Serv Fdn Trust, Dept Cellular Pathol, Southampton, Hants, England., Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Cambridge, England., Univ Milan, Dept Oncol & Oncohematol, Milan, Italy., Fdn IRCCS, Ist Nazl Tumori, Dept Hematol & Pediat Oncohematol, Milan, Italy. |
| المصدر: | SCI |
| بيانات النشر: | ONCOTARGET |
| سنة النشر: | 2017 |
| المجموعة: | Peking University Institutional Repository (PKU IR) / 北京大学机构知识库 |
| مصطلحات موضوعية: | AITL, WES, somatic mutation, oncogenic mechanism, EPIGENETIC REGULATORS, DEATH RECEPTOR-6, PLCG1 MUTATIONS, IDH2 MUTATIONS, RHOA, KINASE, GENES, TET2, SYK, ITK |
| الوصف: | Angioimmunoblastic T cell lymphoma (AITL) originates from follicular helper T-cells and is characterised by a polymorphic infiltrate with the neoplastic T-cells forming small clusters around the follicle and high endothelial venules. Despite the recent advances in its phenotypic characterisation, the genetics and molecular mechanisms underlying AITL are not fully understood. In the present study, we performed whole exome sequencing in 9 cases of AITL from Taiwan (n = 6) and U. K. (n = 3). We confirmed frequent mutations in TET2 (9/9), DNMT3A (3/9), IDH2 (3/9), RHOA (3/9) and PLCG1 (2/9) as recently reported by others. More importantly, we identified mutations in TNFRSF21 (1/9), CCND3 (1/9) and SAMSN1 (1/9), which are not yet seen or strongly implicated in the pathogenesis of AITL. Among the pathogenic mutations identified in AITL, mutations in DNA methylation regulators TET2 and DNMT3A occur early in hematopoietic stem cells as shown by previous studies, and these genetic events enhance the self-renewal of hematopoietic stem cells, but are unlikely to have any major impact on T-cell differentiation. Mutations in RHOA, PLCG1 and TNFRSF21 (DR6), which encode proteins critical for T-cell biology, most likely promote T-cell differentiation and malignant transformation, consequently generating the malignant phenotype. Our findings extend the molecular insights into the multistage development of AITL. ; Kay Kendall Leukaemia Fund [KKL582]; Bloodwise, U.K. [13006]; Master Hsingyun Cultural and Education Foundation ; SCI(E) ; ARTICLE ; 11 ; 17763-17770 ; 8 |
| نوع الوثيقة: | journal/newspaper |
| اللغة: | English |
| تدمد: | 1949-2553 |
| العلاقة: | ONCOTARGET.2017,8(11),17763-17770.; 1909000; http://hdl.handle.net/20.500.11897/474604Test; WOS:000396877500030 |
| الإتاحة: | https://doi.org/20.500.11897/474604Test https://hdl.handle.net/20.500.11897/474604Test |
| رقم الانضمام: | edsbas.D2D3B307 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 19492553 |
|---|