Characterization of Acute Myeloid Leukemia With RUNX1/RUNX1T1 Gene Rearrangement: Clinical, Hematological, and Morphological Features

Objectives: This study aimed to determine the frequency of RUNX1/RUNX1T1 gene rearrangement in acute myeloid leukemia (AML) patients by polymerase chain reaction (PCR) and analyze their clinical, hematological, and morphological features of positive patients.

Patients and methods: A cross-sectional study was conducted in which newly diagnosed patients with AML were included in the study. A total of 101 AML cases were calculated from the World Health Organization (WHO) formula. Sysmex Hematology Analyzer XP-100 (Sysmex Corporation, Kobe, Japan) performed a complete blood picture of these positive patients. Molecular analysis was carried out by reverse transcriptase-polymerase chain reaction (RT-PCR).

Results: A total of 101 AML cases were enrolled. Twelve (11.9%) were found positive for this specific recurrent RUNX1/RUNX1T1 gene rearrangement. Nine (75%) were males, while three (25%) were females. The mean age of the participants was 42 years. The most common clinical feature was pallor. The average count of hemoglobin, platelets, and total leukocyte count was 8 g/dl, 41.5×10⁹/L, and 71.4×10⁹/L, respectively. Bone marrow aspiration showed erythropoiesis, thrombopoiesis, and myelopoiesis depressed in all positive cases of acute myeloblastic leukemia with maturation (AML-M2). The mean blast percentage of AML-M2 was 58%. Auer rods were also found in these positive patients.

Conclusion: Identifying this fusion protein in AML patients with the AML-M2 FAB subtype is valuable because it has prognostic and therapeutic significance.