慢性粒细胞白血病且对酪氨酸激酶抑制剂耐药患者的BCR-ABL外显子7缺失及新的点突变
BCR-ABL exon 7 deletion and novel point mutation in patient with chronic myelogenous leukemia and TKI resistance.
作者信息
Abdullaev Adhamjon, Nemchenko Irina, Nesterova Olga, Mikhailov Ilya, Sudarikov Andrey
机构信息
Faculty of Fundamental Medicine Lomonosov Moscow State University Moscow Russian Federation.
出版信息
Clin Case Rep. 2018 Sep 14;6(11):2057-2060. doi: 10.1002/ccr3.1794. eCollection 2018 Nov.
Abstract
I report a novel BCR-ABL point mutation c.844G>C p.E282Q and a case of combination of two BCR-ABL point mutations (p.E282Q and p.L298R) and exon 7 deletion (del. c.1086-1270) in TKI-resistant patient. These point mutations were present only in a truncated transcript and were absent in "wild-type" BCR-ABL transcript.
摘要
我报告了1例TKI耐药患者中一种新的BCR-ABL点突变c.844G>C p.E282Q以及1例两种BCR-ABL点突变（p.E282Q和p.L298R）与外显子7缺失（del. c.1086-1270）合并存在的病例。这些点突变仅存在于一个截短的转录本中，而在“野生型”BCR-ABL转录本中不存在。
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