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二代测序检测克隆性基因突变对RUNX1-RUNX1T1阳性急性髓系白血病的预后价值

OBJECTIVE: To investigate the prognostic value of clonal gene mutations detected by second-generation sequencing in patients with positive RUNX1-RUNX1T1 acute myeloid leukemia (AML) who received high-dose chemotherapy or autologous transplantation (intensive consolidation therapy)in the first comple...

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Detalles Bibliográficos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Editorial office of Chinese Journal of Hematology 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357927/
https://www.ncbi.nlm.nih.gov/pubmed/32311890
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2020.03.005
Descripción
Sumario:OBJECTIVE: To investigate the prognostic value of clonal gene mutations detected by second-generation sequencing in patients with positive RUNX1-RUNX1T1 acute myeloid leukemia (AML) who received high-dose chemotherapy or autologous transplantation (intensive consolidation therapy)in the first complete remission(CR(1))state. METHODS: 79 AML patients with positive RUNX1-RUNX1T1 who received intensive consolidation therapy in CR(1) state from July 2011 to August 2017 were analyzed retrospectively. Kaplan-Meier curve and Cox regression model were used to figure out the effect of leukocyte counts at onset and gene mutations for prognosis. RESULTS: C-KIT, FLT3, CEBPA and DNMT3A gene mutations were found in 25(31.6%), 6(7.6%), 7(8.9%)and 1(1.3%)patient among the population. Mutations in C-KIT exon17 and C-KIT exon8 were detected in 19(24.1%)and 5(6.3%)cases, respectively, and mutations of FLT3-ITD were confirmed in 5(6.3%)cases. The higher leukocyte counts presented at onset of leukemia, the shorter overall survival(OS)was seen in these patients(P=0.03). Patients with C-KIT exon17 mutation had significantly shorter OS(P=0.01)and disease free survival(DFS)(P=0.006)compared with those without gene mutations, and patients with FLT3-ITD gene mutation got the inferior OS(P=0.048) and DFS (P=0.071). CONCLUSION: In AML patients with positive RUNX1-RUNX1T1 receiving intensive consolidation therapy, the white blood cell counts at onset of leukemia, C-KIT mutations in exon 17, and FLT3-ITD gene mutations suggest poor prognosis, which would contribute to elaborate risk stratification, personalized treatment and predict prognosis for these patients.