Chronic Myeloid Leukemia (CML) is a type of cancer that starts in the blood-forming cells of the bone marrow and invades the blood. It is characterized by the uncontrolled growth of myeloid cells in the bone marrow and the accumulation of these cells in the blood. CML is a genetic disease caused by the reciprocal translocation of chromosomes 9 and 22. This translocation leads to the formation of the Philadelphia chromosome, which produces an abnormal tyrosine kinase called BCR-ABL that drives the proliferation of leukemia cells.
CML Extended is a combination of tests that are critical in the diagnosis and monitoring of CML. This includes Karyotyping, BCR/ABL by Fluorescence In Situ Hybridization (FISH), and BCR/ABL International Scale (IS) by Polymerase Chain Reaction (PCR) Quantitative. These tests provide a comprehensive analysis of the genetic alterations in CML and are important for prognosis and monitoring the response to therapy.
Karyotyping is a test that involves the analysis of chromosomes in a cell. This test can detect the Philadelphia chromosome, which is present in most cases of CML. BCR/ABL by FISH is a test that can detect the BCR-ABL gene fusion at the DNA level, which is a hallmark of CML. BCR/ABL- IS by PCR Quantitative is a highly sensitive test that measures the amount of BCR-ABL mRNA, and it's used to monitor the response to therapy over time
Chronic Myeloid Leukemia (CML) is a cancer of the white blood cells. It is caused by a genetic mutation, specifically a translocation between chromosomes 9 and 22, which forms the Philadelphia chromosome and produces an abnormal enzyme, BCR-ABL, that promotes the proliferation of leukemia cells.
Karyotyping involves the examination of chromosomes in a cell. In CML, Karyotyping is used to detect the presence of the Philadelphia chromosome, which is a diagnostic hallmark of the disease.
BCR/ABL by FISH (Fluorescence In Situ Hybridization) is a technique used to detect the BCR-ABL gene fusion at the DNA level. This gene fusion is characteristic of CML and confirms the diagnosis.
The BCR/ABL- IS by PCR Quantitative test is highly sensitive and measures the amount of BCR-ABL mRNA in the blood. It is used to monitor the patient’s response to therapy, and changes in levels can indicate whether the disease is responding to treatment or progressing.
The Philadelphia chromosome is an abnormal chromosome produced when parts of chromosomes 9 and 22 swap places. This leads to the creation of the BCR-ABL fusion gene which produces an abnormal protein that promotes the growth of leukemia cells.
Early diagnosis of CML is important because it is more treatable in the early stages. Early treatment can help to control the progression of the disease and improve the chances of a positive outcome.
The frequency of the CML Extended test depends on the stage of the disease and the patient’s response to treatment. It is usually done at diagnosis and regularly during treatment to monitor the response.
The common treatment for CML is tyrosine kinase inhibitors (TKIs). These medications block the action of the BCR-ABL protein. Other treatments may include chemotherapy, stem cell transplant, and immunotherapy.
Patients with CML should maintain a balanced diet, stay physically active, avoid smoking and excessive alcohol consumption, and adhere to the treatment and monitoring plan recommended by the doctor.
CML treatments, particularly tyrosine kinase inhibitors, can have side effects such as fatigue, nausea, muscle pain, and changes in blood counts. The healthcare team will monitor and manage side effects during treatment.
If diagnosed with Chronic Myeloid Leukemia, it is imperative to consult a hematologist or oncologist specializing in the treatment of blood cancers.
Yes, there are support groups and organizations that offer help and support to individuals with CML and their families.
CML is not typically hereditary. It is caused by a genetic change that occurs during a person’s lifetime.
CML Extended testing is crucial for the diagnosis, prognosis, and monitoring of Chronic Myeloid Leukemia. It provides in-depth genetic information that is vital for understanding the nature of the disease and planning treatment. Regular monitoring through CML Extended testing is an integral part of managing CML and adjusting treatment plans. Consultation with a hematologist or oncologist is critical for comprehensive care and management.