Bone Marrow Karyotype, Flow Cytometry, and FISH Analysis: Essential Tests to Improve the Initial Diagnosis of Patients with Myeloid Malignancies

Diagnosing hematologic malignancies requires implementing several tests. This study aims to evaluate the chromosomal changes in patients with myeloid disorders and compare the results of flow cytometry and cytogenetics with the initial diagnosis performed by the oncologist.

115 patients with myeloid disorders, 57.2% males and 42.8% females with a mean age of 50.3 years, previously diagnosed by an oncologist based on the clinical features, complete blood count, and peripheral blood smear interpretations, were considered. Moreover, flow cytometry and cytogenetic analysis were implemented on the bone marrow samples.

Cytogenetic results showed that 30% of patients with myeloid disorders had abnormal karyotypes. 77% of patients with myelodysplastic syndromes, 65% of acute myeloid leukemia, and 30.7% of chronic myeloid leukaemia indices showed normal karyotypes, and the others resulted in common and uncommon abnormalities, including the translocation (13;17), 92, XXYY, and del (4q). Considering the flow cytometry and karyotype results, the improved diagnoses were made for 41 patients who had not been diagnosed initially.

This study showed that, in some cases, an initial diagnosis is inconsistent with the flow cytometry and karyotype analysis results. Also, the flow cytometry results may differ from the karyotype depending on the case. Therefore, combining the results obtained by the cytogenetic investigation, flow cytometry, fluorescence in situ hybridization, and molecular testing is preferable to provide a comprehensive report for the appropriate disease diagnosis and prognosis.