BCR ‐ ABL  exon 7 deletion and novel point mutation in patient with chronic myelogenous leukemia and  TKI  resistance | Zendy

Mikhailov Ilya | Zendy

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BCR ‐ 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.

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