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

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2024 Dec 30

PMID 39735012

Authors

Sadaf Maqbool

Iqra Maqbool

Marya Yousaf

Birya Farooqi

Mirza Zeeshan Sikandar

Ridha Zainab

Khush Bakht

Mishal Shahid

Affiliations

Soon will be listed here.

Abstract

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, 41.5×10/L, and 71.4×10/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.

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