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BCR-ABL exon 7 deletion and novel point mutation in patient with chronic myelogenous leukemia and TKI resistance.

Adhamjon AbdullaevIrina NemchenkoOlga NesterovaIlya MikhailovAndrey Sudarikov
Published in: Clinical case reports (2018)
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.
Keyphrases
  • chronic myeloid leukemia
  • tyrosine kinase
  • epidermal growth factor receptor
  • wild type
  • case report
  • rna seq
  • acute myeloid leukemia
  • bone marrow
  • advanced non small cell lung cancer
  • single cell