慢性髓性白血病患者的酪氨酸激酶结构域突变：单中心经验。
Tyrosine kinase domain mutations in chronic myelogenous leukemia patients: A single center experience.
机构信息
Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
出版信息
J Postgrad Med. 2022 Apr-Jun;68(2):93-97. doi: 10.4103/jpgm.JPGM_781_20.
INTRODUCTION
Despite the impressive responses achieved with tyrosine kinase inhibitor (TKI) therapy, treatment resistance develops in 16-33% of patients of chronic myelogenous leukemia (CML). Of the BCR-ABL1 dependent mechanisms, mutations in the tyrosine kinase domain (TKD) are the commonest cause of resistance.
MATERIAL AND METHODS
Allele specific oligonucleotide - polymerase chain reaction (ASO-PCR) was done for testing the six common TKD mutations, T315I, G250E, E255K, M244V, M351T, and Y253F.
RESULTS AND CONCLUSION
TKD mutation study was done on 83 patients. Of these 44 (53%) were positive for one or more mutations. On analyzing specific mutations, E255K was the commonest mutation seen in 24 (29%) cases, followed by T315I in 23(28%) cases. Y253F mutation was not seen in the present study sample. In the present cohort of 83 patients, 29 (35%) cases were positive for single mutation, 12 (14%) had two mutations and 3 (4%) had three mutations.
简介
尽管酪氨酸激酶抑制剂（TKI）治疗取得了令人印象深刻的疗效，但仍有 16-33%的慢性髓系白血病（CML）患者出现治疗耐药。在 BCR-ABL1 依赖性机制中，酪氨酸激酶结构域（TKD）突变是最常见的耐药原因。
材料和方法
采用等位基因特异性寡核苷酸-聚合酶链反应（ASO-PCR）检测六种常见的 TKD 突变，即 T315I、G250E、E255K、M244V、M351T 和 Y253F。
结果和结论
对 83 例患者进行了 TKD 突变研究。其中 44 例（53%）存在一种或多种突变。在分析特定突变时，E255K 是最常见的突变，见于 24 例（29%）患者，其次是 T315I，见于 23 例（28%）患者。本研究样本中未发现 Y253F 突变。在本研究的 83 例患者中，29 例（35%）存在单一突变，12 例（14%）存在两种突变，3 例（4%）存在三种突变。
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