Mutations of FBXW7 in Adult T-Cell Acute Lymphocytic Leukemia / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 612-618, 2015.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-357305
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>BACKGROUD</b>F-Box and WD40 domain containing protein 7 gene (FBXW7) is part of the E3 ubiquitin ligase complex that controls the turnover of various proteins including NOTCH1, c-MYC and Cyclin E.</p><p><b>OBJECTIVE</b>To investigate the mutations of FBXW7 gene in adult T-cell acute lymphoblastic leukemia (T-ALL).</p><p><b>METHODS</b>Exon 5-12 of FBXW7 were amplified, cloned and sequenced in 54 adult T-ALL patients; the frequency, position and types of FBXW7 mutation were analyzed; the co-existing of mutations with NOTCH1 and their relevant prognostic significance were explored as well.</p><p><b>RESULTS</b>FBXW7 mutations were identified in 11.1% of adult T-ALL patients. A total of 4 types of point mutations (R465H, R465L, R479P and R505C) and 1 deletion/insertion mutation were observed, and all of them located in WD40 domain of FBXW7. In addition, co-existing mutations with NOTCH1 were identified in 83.3% of patients with FBXW7 mutation. Notably, the co-existed NOTCH1 mutations, including 3 point mutations (L1574P, L1596H and L1600P) and 2 deletion/insertion mutations located in HD domain. Furthermore, patients with FBXW7 mutation only had significantly longer overall survival compared with those without mutation (P=0.049).</p><p><b>CONCLUSION</b>FBXW7 mutations may play an important role in NOTCH1 mediated pathogenesis in T-ALL.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Prognóstico
/
Éxons
/
Genes myc
/
Proteínas de Ciclo Celular
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Ubiquitina-Proteína Ligases
/
Proteínas F-Box
/
Leucemia-Linfoma Linfoblástico de Células T Precursoras
/
Proteína 7 com Repetições F-Box-WD
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Humanos
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2015
Tipo de documento:
Artigo