Open AccessBCR ‐ ABL exon 7 deletion and novel point mutation in patient with chronic myelogenous leukemia and TKI resistance
Author(s) -
Mikhailov Ilya
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1794
Subject(s) - point mutation , exon , chronic myelogenous leukemia , breakpoint cluster region , medicine , abl , mutation , cancer research , philadelphia chromosome , leukemia , genetics , gene , biology , chromosomal translocation , immunology , tyrosine kinase , receptor
Key Clinical Message 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.