Sample results
Hairy cell leukemia is a rare, slow-growing blood cancer that affects B-lymphocytes, a type of white blood cell. It is caused by a BRAF V600E gene mutation that triggers abnormal growth of B-lymphocytes with distinctive hair-like projections. The BRAF Mutation Analysis is the most important test for diagnosis because this genetic mutation is present in nearly all hairy cell leukemia cases.
Hairy cell leukemia is caused by a specific mutation in the BRAF gene, particularly the BRAF V600E mutation, which is found in nearly all patients with this condition. This genetic change causes B-lymphocytes to grow abnormally and develop characteristic hair-like projections on their surface. While the exact trigger for this mutation is unknown, the BRAF mutation disrupts normal cell growth signals, leading to the accumulation of cancerous white blood cells in the bone marrow and spleen.
The BRAF Mutation Analysis is the most important test for hairy cell leukemia because it detects the BRAF V600E genetic mutation present in almost all cases of this rare blood cancer. This specialized blood test identifies the specific genetic change in B-lymphocytes that confirms the diagnosis and distinguishes hairy cell leukemia from other blood disorders. The test also provides valuable information for treatment planning, as targeted therapies are available for BRAF-positive cancers. Your healthcare provider may also order a complete blood count, blood cell analysis, and bone marrow examination to assess the extent of the disease.
You should get tested if you experience unexplained fatigue, frequent infections, easy bruising or bleeding, or notice an enlarged spleen or abdominal fullness. Testing is also important if routine blood work shows abnormal white blood cell counts, low red blood cell counts (anemia), or low platelet counts without another clear cause. Because hairy cell leukemia is slow-growing, symptoms may develop gradually over months or years, making early detection through blood testing crucial for timely treatment.
What this means
Your test shows no BRAF V600E mutation was detected in your tumor sample. This means your cancer does not have this specific genetic change, which helps your oncologist understand which treatment options are most appropriate for you. While BRAF inhibitors may not be effective, other targeted therapies or treatment approaches can still be highly successful.
Recommended actions
Discuss alternative targeted therapy options with your oncologist based on your cancer type
Consider testing for other genetic mutations like RAS or other actionable markers
Work with your cancer care team to develop a personalized treatment plan
Maintain open communication with your healthcare providers about treatment response and any new symptoms
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Sample results
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