Genetics of Cutaneous T Cell Lymphoma: From Bench to Bedside
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Oncology
Link
http://link.springer.com/content/pdf/10.1007/s11864-016-0410-8.pdf
Reference84 articles.
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2. Choi J, Goh G, Walradt T, Hong BS, Bunick CG, Chen K, et al. Genomic landscape of cutaneous T cell lymphoma. Nature genetics. 2015;47(9):1011–9. doi: 10.1038/ng.3356 . Exome analysis of 40 late stage mycosis fungoides specimens identifying recurrent pathogenic mutations in 17 genes. These mutations include ZEB1, FAS, NFKB2, and STAT5B, among others. Also identifies that the majority of pathogenic mutations in MF are SCNVs (specifically focal deletions) and that a there is a high prevalence of UV signature mutations in MF.
3. Ungewickell A, Bhaduri A, Rios E, Reuter J, Lee CS, Mah A, et al. Genomic analysis of mycosis fungoides and Sezary syndrome identifies recurrent alterations in TNFR2. Nature genetics. 2015;47(9):1056–60. doi: 10.1038/ng.3370 . Exome analysis of 11 MF/SS specimens that identified and characterized the effect of recurrent mutations in tumor necrosis factor receptor TNFR2 (TNFRSF1B gene) as a mechanism by which NF-κB signaling is activated in CTCL. Also show that TNFRS1B mutant CTCLs are sensitive to NF-κB blockade with the proteasome inhibitor bortezomib.
4. da Silva Almeida AC, Abate F, Khiabanian H, Martinez-Escala E, Guitart J, Tensen CP, et al. The mutational landscape of cutaneous T cell lymphoma and Sezary syndrome. Nature genetics. 2015;47(12):1465–70. doi: 10.1038/ng.3442 . Exome analysis of 25 SS, 8 MF, and 9 other CTCL variants that identified recurrent mutations in NF-κB, JAK-STAT, and T cell receptor pathways. Specifically identifies JAK3 and STAT3 mutations in CTCL and show that these mutations are targetable using JAK-STAT pathway inhibitors tofacitinib and ruxolitinib.
5. Wang L, Ni X, Covington KR, Yang BY, Shiu J, Zhang X, et al. Genomic profiling of Sezary syndrome identifies alterations of key T cell signaling and differentiation genes. Nature genetics. 2015;47(12):1426–34. doi: 10.1038/ng.3444 . Exome analysis of 37 SS samples identified recurrently mutated components of T cell signaling such as CARD11 and PDCD1 (PD-1) which result in constitutive TCR pathway activation. Also identified recurrent mutations involved in TH2 functional polarization (ZEB1) and skin homing (CCR4).
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