近来,在急性髓系白血病(AML)中Ⅲ型受体酪氨酸激酶家族中的成员C-KIT基因的异常引起了人们的重视。在C-KIT突变中,8号外显子突变(mutKIT8)和17号外显子突变(mutKIT17)成为了研究的热点,其在伴有t(8;21)或inv(16)的AML中较常见,与临床预后密切相关。国内外的大量研究表明:C-KIT突变预示着有较高的复发率,预后不良,特别是mutKIT17;伊马替尼通过抑制C-KIT受体酪氨酸激酶活性,对伴有C-KIT突变的患者有良好的疗效,而那些伴有C-KIT激酶结构域D816密码子突变的恶性细胞对其不敏感,但对达沙替尼、PKC412、AP23464、AP23848等敏感。可见,筛查C-KIT突变对预后判断和指导治疗具有重要意义。 Recently, the abnormality of the member C-KIT gene in the type III receptor tyrosine kinase family in acute myeloid leukemia (AML) has drawn much attention. In C-KIT mutations, mutKIT8 and mutKIT17 mutations became the hotspot of research, which is more common in AML with t (8; 21) or inv (16) , Which is closely related to clinical prognosis. A large number of studies at home and abroad show that: C-KIT mutation indicates a high recurrence rate and poor prognosis, especially mutKIT17; imatinib inhibits C-KIT receptor tyrosine kinase activity, Mutant patients have good efficacy, but those with C-KIT kinase domain D816 codon mutation of the malignant cells are not sensitive to it, but dasatinib, PKC412, AP23464, AP23848 and other sensitive. Can be seen, screening C-KIT mutation prognosis and guidance of treatment of great significance.