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New mutation?

  • myhoanguyen0709
  • myhoanguyen0709's Avatar Topic Author
7 years 4 months ago #1152 by myhoanguyen0709
New mutation? was created by myhoanguyen0709
I am a doctor from VietNam.
My 42-year- old female patient was diagnosed Ph+ CML in chronic phase, in May 2015. She was treated with Imatinib 400 mg/day from July 2015. After 1 year of Imatinib treatment, she was checked RQ-PCR: BCR/ABL 1.385 % (IS). (She is very poor and did not have enough money to do molecular tests regularly). She was done a tyrosine kinase domain mutation analysis by Sanger sequencing in ATP binding area of BCR/ABL.
Her result is having c.1270-1271ins84 at the join of exon 7 and exon 8 in ABL area.
We do not have any information about this mutation. At this time, in VietNam we just have Imatinib and Nilotinib, another TKIs are not available.
What should we do?
1. Increasing the dose of imatinib in 600 mg/day or
2. Change to nilotinib?
3. Or stop using TKIs?

Dr. Hoa Nguyen
  • Sue Branford
  • Sue Branford's Avatar
7 years 4 months ago #1154 by Sue Branford
Replied by Sue Branford on topic New mutation?
In the first instance I would recommend a repeat mutation analysis on another sample if possible.
Sequence insertions have not been associated with TKI resistance and are often not present on repeat analysis.
It is only point mutations in the kinase domain that have shown TKI resistance.
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