Artigo Revisado por pares

Prevalence and prognostic significance of c-KIT mutations in core binding factor acute myeloid leukemia: A comprehensive large-scale study from a single Chinese center

2014; Elsevier BV; Volume: 38; Issue: 12 Linguagem: Inglês

10.1016/j.leukres.2014.09.017

ISSN

1873-5835

Autores

Ya‐Zhen Qin, Hong‐Hu Zhu, Qian Jiang, Hao Jiang, Leping Zhang, Lan‐Ping Xu, Yu Wang, Yanrong Liu, Yue‐Yun Lai, Hongxia Shi, Bin Jiang, Xiao‐Jun Huang,

Tópico(s)

Chronic Lymphocytic Leukemia Research

Resumo

To clarify the prevalence and prognostic significance of c-KIT mutations in patients with core binding factor acute myeloid leukemia (CBF-AML), a total of 351 patients who were categorized as pediatric t(8;21), adult t(8;21), pediatric inv(16), or adult inv(16) were screened at diagnosis for c-KIT mutations in exons 17 and 8 using direct sequencing. A total of 250 patients underwent follow-up. Overall, 36.5% of the patients had a c-KIT mutation. Adult t(8;21) and inv(16) patients had mutations predominantly in exons 17 and 8, respectively. Higher White blood cell (WBC) count, WBC index, and AML1-ETO transcript levels in adult t(8;21) patients were significantly associated with c-KIT mutations and mutations in exon 17 (P ≤ 0.030). c-KIT mutations in adult t(8;21) patients were significantly correlated with a high cumulative incidence of relapse (CIR, P = 0.0070) at 2 years and a low 2-year disease-free survival (DFS, P = 0.013) and overall survival (OS, P = 0.0055). However, no significant difference was revealed in the effect of c-KIT mutations on outcome of adult inv(16) and pediatric t(8;21) patients (all P > 0.05). Multivariate analysis revealed that c-KIT mutation is an independent prognostic factor for relapse, DFS, and OS (P ≤ 0.016) in adult t(8;21) AML patients. Therefore, with regard to c-KIT mutation, CBF-AML is a heterogeneous disease. c-KIT mutations have a strong adverse effect on the relapse and survival of adult t(8;21) AML patients.

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