From the Guidelines
To diagnose leukemia in a patient with a white blood cell count of 35,000/μL and platelet count of 1,150,000/μL, I would recommend immediate bone marrow aspirate and biopsy, as well as peripheral blood films, to identify the clonal proliferation of myeloid cells and specific genetic abnormalities, as outlined in the ESMO clinical practice guidelines for diagnosis, treatment, and follow-up of acute myeloblastic leukaemias in adult patients 1. The diagnostic workup should include:
- Immunophenotyping of peripheral blood and bone marrow aspirates to characterize the cell populations
- Cytogenetics and molecular genetics, including PCR and FISH techniques, to identify specific genetic abnormalities
- Routine chemistry, including liver and kidney parameters, to assess for any potential organ dysfunction
- Coagulation profile to evaluate the risk of bleeding or thrombotic complications
- Radiology, including a dental survey, CT scan of chest and abdomen, or chest X-ray and abdominal ultrasound, to assess for any potential extramedullary disease The patient's elevated white blood cell count and extreme thrombocytosis raise concern for potential complications, such as thrombosis or hemorrhage, and require urgent hematology consultation. The diagnosis of leukemia relies on identifying the clonal proliferation of myeloid cells and specific genetic abnormalities, and the diagnostic workup should be guided by the most recent and highest quality evidence, as outlined in the ESMO clinical practice guidelines 1.
From the Research
Diagnostic Approach to Leukemia
The patient's symptoms and laboratory results, including a white blood cell (WBC) count of 35 and a platelet count of 1150, suggest the possibility of leukemia. To diagnose leukemia, the following steps can be taken:
- A complete blood count (CBC) is usually the initial test, which can reveal leukocytosis and other abnormally elevated or depressed cell lines, as seen in this patient 2.
- Further examination of the bone marrow or peripheral blood is necessary to confirm the diagnosis of leukemia 2.
- Immunophenotyping, karyotype analysis, and molecular genetic testing may also be performed to determine the specific subtype of leukemia 3.
Laboratory Testing
Laboratory testing is crucial in the diagnosis of leukemia. The following tests may be performed:
- Complete blood count (CBC) to evaluate the patient's blood cell counts, including WBC, red blood cell (RBC), and platelet counts 4.
- Bone marrow biopsy or aspiration to examine the bone marrow for abnormal cells 2.
- Immunophenotyping to determine the specific type of leukemia cells present 3.
- Karyotype analysis to identify any genetic abnormalities, such as the Philadelphia chromosome, which is characteristic of chronic myeloid leukemia (CML) 5, 6.
Subtypes of Leukemia
There are several subtypes of leukemia, including: