Acute Myeloid Leukemia is not one but a diverse group of myeloproliferative neoplasms defined by, among other criteria, the myeloid cell type affected and more recently the genetic profile of the clone in question. For a more detailed review of the various AML subtypes the reader is kindly referred to the WHO Classification of Tumours of Hematopoetic and Lymphoid Tissues (2017).
Testing – Diagnostic
Confirmation of an AML diagnosis is routinely performed by hematopathologic review and generally does not depend on the genetics service.
Testing – Pretreatment Testing
While the diagnosis of AML does not generally depend on genetics, both the classification, prognosis, and therapeutic options increasingly depend on genetic results obtained post the initial diagnosis. As cytogenetic and molecular profiling of patients with new diagnoses of AML is standard of care, the following tests should be initiated immediately upon confirmation of diagnosis.
- Karyotype (with reflex FISH as appropriate)
- FLT3 ITD and TKD mutation screen (Diagnoses of APL excepted)
- Myeloid Panel based mutation screen (Diagnoses of APL excepted)
Testing – Monitoring Response to Therapy (MRD testing)
The Cancer Genetics and Genomics Laboratory offers MRD testing targeting the following three biomarkers