Shafik Nevine F, Ibraheem Dalia, Selim Marwa Mahmoud, Allam Rasha Mahmoud, Fathalla Lamiaa A
Clinical Pathology and Oncologic Laboratory Medicine Department, National Cancer Institute, Cairo University, Egypt.
Medical oncology Department, National Cancer Institute, Cairo University, Egypt.
Clin Lymphoma Myeloma Leuk. 2022 Jun;22(6):e363-e375. doi: 10.1016/j.clml.2021.11.015. Epub 2021 Dec 2.
Many recurrent mutations are encountered in core binding factor acute myeloid leukemia (CBF-AML) which may affect the prognosis. Approximately 20 to 45% of CBF-AML patients have KIT mutations which are having poor prognosis and high incidence of relapse. There is still insufficient data to categorize the patients with c-kit mutation into which risk group and there is a debate around whether Tyrosine kinase inhibitors can decrease the relapse risk and improve the prognosis of those patients.
This study was conducted throughout a period of 3 years, where 102 CBF-AML were enrolled in our study. We analyzed the incidence of c-KIT exon 8 and 17 D816V mutations in CBF-AML patients and studied the prognosis.
The prevalence of CBF-AML was 102 of 989 (10.3%), 13.7% and 8.7% in pediatrics and adults' groups respectively. c-KIT fragment mutation analysis revealed a mutant form in 27 of 102 (26.5%) patients. Exon 8 mutation was found in 4 of 40 pediatric and 2 of 62 adult patients, while exon 17 mutation was found in 9 of 40 pediatric and 12 of 62 adult patients. The c-KIT mutations was more common in t(8;21). There was no significant relationship between c-kit mutation and CR rates, while there was a significant inferior overall, disease free as well as progression free survival in the c-KIT mutant patients as compared to the wild group (P value .045, .036 and .024 respectively) in the pediatric group, however, this significance was not evident in the adults' group.
According to our study, the results may suggest c-KIT mutation as a poor risk factor in pediatric CBF-AML.
核心结合因子急性髓系白血病（CBF-AML）中存在许多复发性突变，这些突变可能影响预后。约20%至45%的CBF-AML患者存在KIT突变，这些患者预后较差且复发率高。目前仍缺乏足够的数据将c-kit突变患者归类到哪个风险组，并且围绕酪氨酸激酶抑制剂是否能降低复发风险并改善这些患者的预后存在争议。
本研究历时3年，共纳入102例CBF-AML患者。我们分析了CBF-AML患者中c-KIT外显子8和17 D816V突变的发生率，并研究了预后情况。
CBF-AML的患病率在989例中为102例（10.3%），儿科组和成人组分别为13.7%和8.7%。c-KIT片段突变分析显示，102例患者中有27例（26.5%）存在突变形式。40例儿科患者中有4例、62例成人患者中有2例检测到外显子8突变；40例儿科患者中有9例、62例成人患者中有12例检测到外显子17突变。c-KIT突变在t(8;21)中更为常见。c-kit突变与完全缓解率之间无显著关系，但与野生型组相比，儿科组中c-KIT突变患者的总生存期、无病生存期和无进展生存期均显著较差（P值分别为0.045、0.036和0.024），然而，在成人组中这种显著性并不明显。
根据我们的研究结果，可能提示c-KIT突变是儿科CBF-AML的一个不良风险因素。
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