|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
This study functionally interrogated nine PLCG1 mutations (p.R48W, p.S312L, p.D342N, p.S345F, p.S520F, p.R1158H, p.E1163K, p.D1165H, and the in-frame indel p.VYEEDM1161V) identified in Sézary Syndrome, the leukemic variant of CTCL.
|
31376383 |
2020 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
AlteredExpression
|
disease |
BEFREE |
Recent evidence suggests that disturbances in specific intracellular signalling pathways, such as RAS-mitogen-activated protein kinase, T-cell receptor (TCR)-phospholipase C gamma 1 (PLCG1)-nuclear factor of activated T cells (NFAT) and Janus kinase (JAK)-signal transducer and activator of transcription (STAT), may play an essential role in the pathogenesis of CTCL.
|
31049933 |
2020 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
Biomarker
|
disease |
BEFREE |
Subsequently, 13 hub genes including CFLAR, GCNT2, IFNG, IL17A, IL22, MIP, PLCG1, PTH, PTPN6, REG1A, SNAP25, SUPT7L, and TP63 were shown to be related to cutaneous T-cell lymphoma (CTCL) and adult T-cell lymphoma/leukemia (ATLL).In summary, in addition to the reported genes (IL17F, PLCG1, IFNG, and PTH) in CTCL/ATLL, the other high instable genes may serve as novel biomarkers for the regulation of the biological processes and molecular mechanisms of CTLT (MF/SS).
|
29794791 |
2018 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
Biomarker
|
disease |
CTD_human |
Genomic landscape of cutaneous T cell lymphoma.
|
26192916 |
2015 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
This new study finds that only 3-5% of the CTCL tumor genomes (mycosis fungoides and Sézary syndrome) harbor PLCG1 mutations.
|
26269406 |
2015 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Thus, increased proliferative and survival mechanisms in CTCL may partially depend on the acquisition of somatic mutations in PLCG1 and other genes that are essential for normal T-cell differentiation.
|
24497536 |
2014 |