Name of the Condition

• Chronic Myeloid Leukemia (CML), BCR/ABL-positive, not having achieved remission

Summary

Chronic Myeloid Leukemia (CML) is a type of cancer that affects the bone marrow and blood, characterized by an overproduction of abnormal white blood cells. The BCR/ABL fusion gene is a hallmark genetic abnormality associated with CML. When the disease has not achieved remission, it means the cancerous activity persists despite treatment efforts.

Causes

CML is primarily caused by a genetic mutation that results in the formation of the BCR/ABL fusion gene. This gene produces an abnormal tyrosine kinase protein that leads to uncontrolled cell division.

Risk Factors

• Age: Most common in adults over 65.
• Gender: Slightly more prevalent in males.
• Exposure to ionizing radiation.
• Genetic factors, though there is typically no family history.

Symptoms

• Fatigue or weakness
• Unexplained weight loss or fever
• Night sweats
• Enlarged spleen or discomfort in the abdomen
• Frequent infections
• Anemia or easy bruising/bleeding

Diagnosis

• Blood tests to check for an abnormal white blood cell count.
• Bone marrow biopsy to examine chromosome abnormalities.
• Genetic testing for the BCR/ABL fusion gene.

Treatment Options

• Tyrosine kinase inhibitors (TKIs) like imatinib, dasatinib, or nilotinib, which target the BCR/ABL protein.
• Chemotherapy to reduce white blood cell counts.
• Stem cell transplant for eligible patients, offering a potential cure.
• Monitoring of disease status through regular blood tests and assessments.

Prognosis and Follow-Up

• Prognosis varies; TKIs have dramatically improved outcomes.
• Regular monitoring is crucial to assess treatment effectiveness and disease progression.
• Lifelong treatment and follow-ups are often necessary.

Complications

• Progression to more aggressive forms of leukemia if untreated.
• Splenomegaly causing discomfort or organ dysfunction.
• Anemia or other blood-related complications.

Lifestyle & Prevention

• Regular physical activity and a balanced diet to support overall health.
• Avoidance of known risk factors, such as exposure to unnecessary ionizing radiation.
• There are no specific preventive measures due to the genetic cause of CML.

When to Seek Professional Help

• Worsening fatigue or abrupt changes in health status.
• Symptoms of infection, significant weight loss, or abdominal discomfort should prompt medical consultation.

Additional Resources

• Leukemia & Lymphoma Society (lls.org)
• National Cancer Institute (cancer.gov)
• American Cancer Society (cancer.org)

Tips for Medical Coders

• Ensure documentation specifies BCR/ABL positivity and remission status.
• Avoid confusing with other types of leukemia; double-check code C92.10.
• Verify that the patient's current treatment and monitoring are reflected in the records to accurately code the condition.