What Is Philadelphia Chromosome?
The Philadelphia chromosome is a chromosomal abnormality that causes chronic myeloid leukemia (CML).
What Are Symptoms of Philadelphia Chromosome?
Symptoms of chronic myeloid leukemia (CML) are can be vague and include:
- Night sweats
- Weight loss
- Bone pain
- Enlarged spleen (a palpable mass under the left side of the ribcage)
- Pain or a sense of “fullness” in the abdomen
- Feeling full after eating even a small amount of food
- Anemia (low red blood cells) that can cause weakness, tiredness, and shortness of breath
- Leukopenia (low white blood cells) which increases the risk of infections
- Thrombocytopenia (low blood platelets) that can lead to easy bruising or bleeding, including severe nosebleeds and bleeding gums
What Causes Philadelphia Chromosome?
Chronic myeloid leukemia (CML) usually begins during cell division, when DNA is swapped (called a translocation) between chromosomes 9 and 22. Part of chromosome 9 goes to 22 and part of 22 goes to 9. This makes an abnormal chromosome 22 that's shorter than normal, called the Philadelphia chromosome. The Philadelphia chromosome is found in the leukemia cells of most patients with CML.
Risk factors for developing chronic myeloid leukemia (CML) include:
- Radiation exposure
- Age: risk is increased with age
- Gender: CML is slightly more common in males than females
How Is Philadelphia Chromosome Diagnosed?
Chronic myeloid leukemia (CML) and the Philadelphia chromosome is diagnosed with tests such as:
What Is the Treatment for Philadelphia Chromosome?
Treatment for chronic myeloid leukemia (CML) caused by the Philadelphia chromosome includes one or more of the following:
- Targeted therapies: tyrosine kinase inhibitors (TKIs) that target BCR-ABL are the standard treatment for CML
- Interferon therapy
- Radiation therapy
- Not used often for CML
- May be used to shrink the spleen or relieve bone pain
- Removal of the spleen (splenectomy)
- Stem cell transplant
- Allogeneic stem cell transplant is the only proven chance to cure CML
- May be recommended for younger patients, particularly children
- More likely to be considered for patients with an available matched donor, such as a well-matched brother or sister
- May also be recommended if CML is not responding well to TKIs
There is technically no cure for chronic myeloid leukemia (CML) caused by the Philadelphia chromosome, but treatment can help the cancer go into remission (also called “no evidence of disease”). It is not always possible to tell if any cancer cells remain in the body, which is why doctors often refer to “no evidence of disease” as remission rather than a cure.
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