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.
J Postgrad Med. 2022 Apr-Jun;68(2):93-97. doi: 10.4103/jpgm.JPGM_781_20.
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.
Allele specific oligonucleotide - polymerase chain reaction (ASO-PCR) was done for testing the six common TKD mutations, T315I, G250E, E255K, M244V, M351T, and Y253F.
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.
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。
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。
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。
