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What is the Philadelphia chromosome? Why is it so critical in chronic myelogenous leukemia?
In the field of leukemia, chronic myelogenous leukemia (CML) breaks into people's field of vision. This cancer primarily affects the production of white blood cells, causing the abnormal growth and accumulation of myeloid cells in the bone marrow. CML accounts for 15% to 25% of all adult leukemias. The core reason is the genetic abnormality known as the Philadelphia chromosome.
Gene abnormalities of the Philadelphia chromosome
In 1960, scientists first discovered the Philadelphia chromosome, a characteristic chromosomal translocation involving the 9th and 22nd chromosomes. Behind the story, the fusion of the BCR and ABL genes creates the BCR-ABL fusion gene, a tyrosine kinase that triggers uncontrolled growth of cells.
This fused BCR-ABL protein not only accelerates cell division, but also inhibits DNA repair, further enhancing the genetic instability of the cell.
Symptoms and diagnosis of CML
CML usually has no obvious symptoms in the early stages, and many patients have abnormally increased white blood cell counts during examination. When the disease enters an accelerated phase or a crisis phase, more obvious symptoms will appear, such as fever, bleeding, etc. The key to confirming the diagnosis is to conduct a chromosomal examination to look for the Philadelphia chromosome.
Diagnostic methods for chronic myelogenous leukemia include bone marrow biopsy and cytogenetic testing. These techniques can help doctors pinpoint the cause when abnormally proliferating cells are found.
Treatment methods
With the development of drugs, the treatment options for CML have undergone revolutionary changes. Since 2001, tyrosine kinase inhibitors (TKIs) have become the mainstay of treatment for CML, significantly improving patient prognosis. Take Imatinib as an example. This drug not only effectively controls the growth of myeloid cells, but also allows many patients to return to normal quality of life.
Research shows that long-term survival rates for CML patients have improved since 2001, with the five-year survival rate reaching 89%.
The importance of the Philadelphia chromosome
The importance of the Philadelphia chromosome in CML is reflected in its central role as the cause. Many new therapies developed are designed to target the BCR-ABL fusion gene. If it cannot be detected and treated in time, it is likely to worsen the course of the disease and even enter the acute leukemia stage.
Conclusion
With in-depth research on the Philadelphia chromosome and its related mechanisms, the medical community's vision for the treatment of chronic myelogenous leukemia has become clearer. However, it also raises a question about future treatments: Faced with the increasingly complex causes of leukemia, how can we prevent and respond to the disease more effectively?
