What is BCR-ABL mutation?
BCR-ABL is a mutation that is formed by the combination of two genes, known as BCR and ABL. It’s sometimes called a fusion gene. The BCR gene is normally on chromosome number 22. The ABL gene is normally on chromosome number 9. The BCR-ABL mutation happens when pieces of BCR and ABL genes break off and switch places.
What is the most common mutation for CML?
This study showed 43% of patients having mutations and E255V/K was the most common mutation followed by Y253H/F. The importance of presence of these mutations in CML patients on imatinib without resistance has been studied by Branford S et al.
What is CML mutation?
People with CML have a genetic mutation or change in their bone marrow cells. It is called a translocation. A translocation is when part of a long strand of genes called a chromosome breaks off and reattaches to another chromosome.
What is Irma blood test?
This test is useful for detecting over 90 known and novel mutations in ABL kinase domain of Ph chromosome including T3151 and P-loop mutations responsible for resistance to Imatinib in CML patients.
How does BCR-ABL cause CML?
The swapping of DNA between the chromosomes leads to the formation of a new gene (an oncogene) called BCR-ABL. This gene then produces the BCR-ABL protein, which is the type of protein called a tyrosine kinase. This protein causes CML cells to grow and divide out of control.
What is the normal range of BCR-ABL?
The effective measurement range for the international scale was deemed to be a BCR-ABL level of 10% IS or below. This was because most field methods used ABL as the control gene.
What are the stages of CML?
There are three phases of CML: chronic, accelerated, and blast. Classifying someone into these phases depends on the number of blast cells in the blood or bone marrow. The phase helps determine the preferred treatment and overall outlook.
What gene is associated with chronic myeloid leukemia CML?
Chronic myeloid leukemia is caused by a rearrangement (translocation ) of genetic material between chromosome 9 and chromosome 22. This translocation, written as t(9;22), fuses part of the ABL1 gene from chromosome 9 with part of the BCR gene from chromosome 22, creating an abnormal fusion gene called BCR-ABL1.
What does Irma stand for in CML therapy?
There were few studies reported from India on BCR-ABL kinase mutations in imatinib failure patients. We present our data on imatinib resistance mutation analysis (IRMA) and use of imatinib dose hike and 2nd-generation TKI at our institute.
What is imatinib resistance?
Resistance to imatinib therapy can be defined as one of the following: (1) failure to achieve complete hematologic response and BCR-ABL1 transcript levels less than or equal to 10% (IS) after 3 to 6 months of therapy or partial cytogenetic response by cytogenetics after 3 to 6 months of therapy; (2) failure to achieve …