Hi all,
Has anyone dealt with or even heard of MECOM rearrangement (mutation?)?
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MECOM rearrangement
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I have never heard of the MECOM rearrangement, but my curiosity uncovered the following:
"MECOM (also known as EVI1) is a gene that plays a critical role in regulating the development and differentiation of blood cells. Rearrangements of the MECOM gene are associated with various hematologic malignancies, including myelodysplastic syndrome, acute myeloid leukemia, and chronic myelomonocytic leukemia.
MECOM rearrangement refers to a chromosomal abnormality where the MECOM gene is disrupted and its normal function is altered. This can occur through a variety of mechanisms, including translocations, inversions, deletions, and duplications.
One of the most common MECOM rearrangements is the t(3;3)(q21;q26) translocation, which involves the fusion of the MECOM gene with the RPN1 gene. This rearrangement results in the formation of a chimeric protein that can interfere with normal blood cell development and contribute to the development of leukemia.
Other MECOM rearrangements include inv(3)(q21;q26), which also involves the fusion of MECOM with RPN1, and del(3)(q26), which results in the loss of the MECOM gene.
MECOM rearrangements are often associated with poor prognosis and resistance to standard chemotherapy. However, targeted therapies that inhibit the activity of the abnormal MECOM protein are currently being developed and tested in clinical trials."