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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Nat+Genet
2015 ; 47
(12
): 1426-34
Nephropedia Template TP
gab.com Text
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English Wikipedia
Genomic profiling of Sézary syndrome identifies alterations of key T cell
signaling and differentiation genes
#MMPMID26551670
Wang L
; Ni X
; Covington KR
; Yang BY
; Shiu J
; Zhang X
; Xi L
; Meng Q
; Langridge T
; Drummond J
; Donehower LA
; Doddapaneni H
; Muzny DM
; Gibbs RA
; Wheeler DA
; Duvic M
Nat Genet
2015[Dec]; 47
(12
): 1426-34
PMID26551670
show ga
Sézary syndrome is a rare leukemic form of cutaneous T cell lymphoma
characterized by generalized redness, scaling, itching and increased numbers of
circulating atypical T lymphocytes. It is rarely curable, with poor prognosis.
Here we present a multiplatform genomic analysis of 37 patients with Sézary
syndrome that implicates dysregulation of cell cycle checkpoint and T cell
signaling. Frequent somatic alterations were identified in TP53, CARD11, CCR4,
PLCG1, CDKN2A, ARID1A, RPS6KA1 and ZEB1. Activating CCR4 and CARD11 mutations
were detected in nearly one-third of patients. ZEB1, encoding a transcription
repressor essential for T cell differentiation, was deleted in over one-half of
patients. IL32 and IL2RG were overexpressed in nearly all cases. Our results
demonstrate profound disruption of key signaling pathways in Sézary syndrome and
suggest potential targets for new therapies.