What does P210 BCR-ABL1 detected mean?
Positive. BCR-ABL1 fusion transcripts (p210) detected. BCR-ABL1/ABL1 quantitative ratio is provided (normalized copy number) Weakly positive. BCR-ABL1 fusion transcripts detected below the limit of quantitation.
What does BCR-ABL1 do?
The presence of the gene sequence known as BCR-ABL1 confirms the diagnosis of CML and a form of acute lymphoblastic lymphoma (ALL), specifically a type of B-lymphoblastic leukemia/lymphoma. In very rare cases, the abnormal chromosome is linked to cases of acute myeloid leukemia and T-lymphoblastic leukemia/lymphoma.
What is p230 BCR-ABL1?
p230BCR-ABL1 (e19a2), also known as the μ BCR-ABL1 transcript (μ-BCR), encodes a hybrid 230-kDa protein. p230BCR-ABL1 is generated by the fusion of almost the entire BCR gene with the ABL1 gene and is considered a molecular diagnostic marker for neutrophilic-chronic myeloid leukemia (CML-N) [23].
Does BCR-ABL phosphorylation?
In addition, we identified Y242 as a novel Gab1 phosphorylation site. Bcr-Abl is known to phosphorylate cytoskeletal regulating proteins such as Dok1. In addition, Drosophila Abl kinase phosphorylates the Drosophila Ena/VASP protein, which is also involved in cytoskeletal regulation.
Is BCR ABL a tumor suppressor gene?
Normal ABL1 is a tumor suppressor in BCR-ABL1–induced leukemia. Allosteric stimulation of the normal ABL1 kinase activity enhanced the antileukemia effect of ABL1 tyrosine kinase inhibitors.
How does BCR-ABL1 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 do you need to know about BCR-ABL1?
The quantitative BCR-ABL1 molecular test measures either of the breakpoints in the fusion gene. It is used to establish a baseline value and then to monitor the person’s response to treatment and, if the person achieves remission, to monitor for recurrence.
Where do BCR-ABL1 translocations occur in the CML gene?
In CML, most translocations fall in the major breakpoint cluster region of the BCR gene, and result in either of two BCR-ABL1 mRNA molecules having an e13a2 junction (fusion of BCR exon 13 with ABL1 exon 2) or an e14a2 junction (fusion of BCR exon 14 with ABL1 exon 2) that encodes the p210 BCR-ABL1 fusion protein.
What does BCR-ABL1 mean for imatinib resistance?
If the BCR-ABL1 level rises, then it indicates disease progression or recurrence and it may also indicate that the person has become resistant to imatinib. Additional genetic testing is often performed to detect the development of BCR-ABL1 kinase domain mutations associated with imatinib resistance.
When to perform BCR-ABL1 kinase domain mutation analysis?
When a person is not responding and treatment resistance is suspected or disease recurrence occurs after remission, BCR-ABL1 kinase domain mutation analysis may be performed. What does the test result mean? An interpretation of test results is typically done by a healthcare practitioner with specialized training and provided with the report.