The Northside Hospital Department of Pathology includes seventeen board certified pathologists with a broad range of subspecialty expertise. Five fellowship-trained hematopathologists are part of the Pathology group. The hematopathologists specialize in the diagnosis of hematolymphoid diseases, acute leukemia being among the most critical of these diagnoses.
The diagnosis of acute leukemia requires integration of morphologic, immunophenotypic, cytogenetic, molecular genetic and clinical findings. These data are all essential in providing the patient with the correct diagnosis, adding important prognostic information and, increasingly, impacting therapeutic decisions. NSH- Leukemia Program routinely tests for a number of different gene mutations which may impact diagnosis, prognosis and therapy as part of the initial workup of new acute leukemia patients. Depending on the patient’s presumptive diagnosis, these may include;
- Mutational analysis for FLT3-ITD, NPM1, CEBPA, RUNX1, IDH1/2 and KIT genes
- Rearrangements of PML-RARA, BCR-ABL1 and MLL.
- An additional broader panel of genes is often assessed by next generation sequencing, looking at newer prognostic and potential therapeutic targets.
The hematopathologists work to expediently evaluate and integrate data in order for important clinical decisions to proceed.
In the process of making a diagnosis of acute leukemia, the hematopathologists:
- Review the morphology of peripheral blood, bone marrow aspirate and bone marrow core biopsy samples, looking for increased numbers of immature cells (blasts and blast-equivalents) as well as other essential morphologic findings including dyspoiesis
- Look for morphologic clues which may impact immediate clinical decision-making or suggest alternative testing
- Review flow cytometric immunophenotyping data, integrating this information into the diagnostic algorithm.
- Utilize special studies including immunohistochemistry, in -situ hybridization and cytochemistry, as needed, for appropriate disease categorization
- Review cytogenetic and molecular genetic data which may impact diagnosis or prognosis
Ongoing monitoring of the blood and bone marrow of patients with acute leukemia is also an important role of the hematopathologists. All of the techniques discussed above may be essential in the followup setting. The hematopathologists recognize morphologic and immunophenotypic changes which may be induced by therapy. Understanding these findings is critical in separating therapeutic impact and marrow recovery from residual or relapsed disease.