What are the diagnostic tests and treatment options for leukaemia?

From the Guidelines

Diagnosing leukemia requires a comprehensive approach, starting with blood tests such as a complete blood count (CBC) and bone marrow biopsy, followed by specialized tests like flow cytometry, cytogenetic analysis, and molecular testing to guide treatment decisions, as recommended by the most recent guidelines 1. The diagnostic work-up for leukemia involves several key steps, including:

• Blood tests, such as a CBC, to check for abnormal white blood cell levels
• Bone marrow biopsy to confirm the diagnosis and determine the specific type of leukemia
• Flow cytometry to identify the cell type and detect any abnormal cell surface markers
• Cytogenetic analysis, including conventional karyotyping and FISH, to detect any chromosomal abnormalities
• Molecular testing, such as PCR or NGS, to identify specific genetic mutations that may guide treatment decisions According to the European LeukemiaNet 2020 recommendations, treatment for chronic myeloid leukemia (CML) should aim to achieve normal survival and good quality of life without life-long treatment, and should be managed in cooperation with a specialized referral center 1. Treatment options for leukemia vary depending on the type of leukemia, patient age, and overall health, and may include:
• Intensive chemotherapy for acute leukemias (ALL and AML)
• Targeted therapies, such as imatinib (Gleevec) for CML, at a daily dose of 400-600mg
• Combination chemotherapy and immunotherapy for chronic lymphocytic leukemia (CLL)
• Stem cell transplantation for eligible patients, particularly those with high-risk disease or after relapse Supportive care, including blood transfusions, antibiotics, and growth factors, is crucial throughout treatment to manage complications and improve patient outcomes, as emphasized in the initial diagnostic work-up of acute leukemia guidelines 1 and the European LeukemiaNet 2020 recommendations 1.

From the FDA Drug Label

The literature should be consulted for the current recommendations for use in acute lymphocytic leukemia In the induction therapy of acute non-lymphocytic leukemia, the usual cytarabine injection dose in combination with other anti-cancer drugs is 100 mg/m2/day by continuous intravenous infusion (Days 1 to 7) or 100 mg/m2 intravenously every 12 hours (Days 1 to 7). Cytarabine injection has been used intrathecally in acute leukemia in doses ranging from 5 mg/m2 to 75 mg/m2 of body surface area. Daunorubicin hydrochloride, used as a single agent, has produced complete remission rates of 40 to 50%, and in combination with cytarabine, has produced complete remission rates of 53 to 65%

The diagnostic tests and treatment options for leukaemia are not directly stated in the provided drug labels. However, the labels mention the use of cytarabine and daunorubicin in the treatment of acute non-lymphocytic leukemia and acute lymphocytic leukemia.

• The treatment options include:
  • Cytarabine injection in combination with other anti-cancer drugs
  • Daunorubicin hydrochloride as a single agent or in combination with cytarabine
• The labels also mention the importance of consulting the literature for current recommendations on the use of these drugs in the treatment of leukaemia 2 3. Key words: leukaemia, cytarabine, daunorubicin, treatment options.

From the Research

Diagnostic Tests for Leukaemia

• The diagnosis of leukaemia can be made when blasts constitute 30% or more of the nucleated cells in a patient's peripheral blood (PB) sample 4
• Bone marrow aspiration may also be performed as a confirmatory diagnosis 5, 6
• Flow cytometric techniques are widely used in clinical hematology to characterize leukaemias by immunotyping, which is particularly helpful when the morphology is difficult to interpret 5
• Molecular analysis based on various techniques, such as polymerase chain reaction (PCR), has become an essential part of the diagnostic panel for acute leukaemia 7
• Computer-aided diagnosis systems have been proposed to improve the accuracy and reliability of leukaemia diagnosis 8

Treatment Options for Leukaemia

• Chemotherapy of chronic leukaemias remains symptomatic 6
• Various combinations of cytostatic drugs are used for treatment of acute leukaemias 6
• Complete remissions are mostly achieved after transient bone marrow aplasia; this aplastic phase must be overcome by supportive measures 6
• Targeted therapeutic strategies, such as tyrosine kinase inhibitor (TKI) imatinib for BCR-ABL positive ALL, are continuously expanding 7
• Bone marrow transplantation is a potential treatment option, and cure of the leukaemias appears to be theoretically possible 6

Comparison of Diagnostic Tests

• The results of diagnostic studies performed on PB samples with blast counts of 30% or more were compared with those performed on the same patients' BM samples, and no differences in morphologic features, cytochemistry, or immunophenotype were found 4
• However, in some cases, PB samples were insufficient for cytogenetic analysis, while BM samples were sufficient 4
• The correlation between the cytogenetic results for PB and BM samples was strong in cases with adequate metaphases 4