C-KIT突变在伴t(8;21)或inv(16)的急性髓系白血病中的研究进展

Research advancement of C-KIT mutation in acute myeloid leukemia with t(8;21)or inv(16)

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, genie abnormality of C-KIT of type Ⅲ receptor tyrosine kinase family in acute myeloid leukemia（AML） has received emphasis. Of C-KIT mutations,8 exon mutation（ mutKIT 8 ） and 17 exon mutation （mutKIT 17 ）were the focuses of research, which were common in A ML with t（ 8 ;21 ）or inv （16）and associated with the clinical prognosis, Amount of researches in our country and oversea showed C-KIT mutation （mutKIT） predicted comparatively high incidence of relapse and negative prognosis, especially such as mutKIT 17. By inhibiting the activity of tyrosine kinase,imatinib mesylate had good effect on AML patients with C-KIT mutation, but had no effect on malignant cells with D816 codon mutation which was sensitive to dasatinib,AP 23464,AP 23848 and PKC412. Apparently,it is important to screen for mutKIT at diagnosis for both prognostic and therapeutic purpose.