Diagnosis of Chronic Lymphocytic Leukaemia
Diagnosis of chronic lymphocytic leukaemia often begins with an incidental finding during routine blood work. Many individuals with chronic lymphocytic leukaemia show no symptoms initially, but blood tests may reveal elevated white blood cell counts, prompting further investigation.
1. Complete Blood Count (CBC)
The first clue is usually a high lymphocyte count on a CBC. A sustained elevation of lymphocytes, especially when not linked to an active infection, raises suspicion for CLL. Other abnormalities may include low red blood cells (anaemia) and reduced platelets (thrombocytopenia).
2. Peripheral Blood Smear
This test involves examining a drop of blood under a microscope. It helps identify the presence of small, mature-appearing lymphocytes and smudge cells (damaged lymphocytes), which are typical in CLL.
3. Flow Cytometry | Diagnosis of Chronic Lymphocytic Leukaemia
Flow cytometry is a key diagnostic tool. It analyses surface markers on white blood cells to distinguish between normal and abnormal lymphocytes. In CLL, the cancerous B-cells express a characteristic pattern of proteins, including CD5, CD19, and CD23.
4. FISH Testing and Cytogenetics
Fluorescence in situ hybridisation (FISH) identifies chromosomal abnormalities that have prognostic significance. Deletions on chromosomes 13q, 11q, and 17p, or the presence of trisomy 12, help predict how aggressive the disease may be and guide treatment planning.
5. Bone Marrow Biopsy
While not always necessary at diagnosis, a biopsy of the bone marrow may be performed to assess the extent of disease involvement, especially if treatment is being considered.
6. Imaging Tests | Diagnosis of Chronic Lymphocytic Leukaemia
Ultrasound, CT, or PET scans may be used to evaluate enlarged lymph nodes, spleen, or liver. Imaging is especially useful if bulky disease or complications are suspected.
7. Beta-2 Microglobulin and IGHV Mutation Status
These blood tests offer additional information about disease progression and prognosis. Unmutated IGHV genes, for example, are associated with a more aggressive disease course.
Diagnosis is usually confirmed through a combination of these tests. Once diagnosed, CLL is staged using systems like the Rai or Binet classification, which help determine prognosis and treatment necessity.
A timely and accurate diagnosis of chronic lymphocytic leukaemia provides the foundation for effective disease monitoring and tailored care. Not all cases require immediate treatment — many are simply observed until symptoms develop or blood counts change significantly.
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