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RUNX1/RUNX1T1基因重排的急性髓系白血病的特征:临床、血液学和形态学特征

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

作者信息

Maqbool Sadaf, Maqbool Iqra, Yousaf Marya, Farooqi Birya, Sikandar Mirza Zeeshan, Zainab Ridha, Bakht Khush, Shahid Mishal

机构信息

Internal Medicine, Egon German Clinic Accra, Accra, GHA.

Internal Medicine, Akhter Saeed Medical and Dental College, Lahore, PAK.

出版信息

Cureus. 2024 Nov 29;16(11):e74760. doi: 10.7759/cureus.74760. eCollection 2024 Nov.

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.

摘要

目的

本研究旨在通过聚合酶链反应(PCR)确定急性髓系白血病(AML)患者中RUNX1/RUNX1T1基因重排的频率,并分析阳性患者的临床、血液学和形态学特征。

患者与方法

进行了一项横断面研究,纳入新诊断的AML患者。根据世界卫生组织(WHO)公式计算出101例AML病例。使用Sysmex血液分析仪XP - 100(Sysmex公司,日本神户)对这些阳性患者进行全血细胞计数。通过逆转录聚合酶链反应(RT-PCR)进行分子分析。

结果

共纳入101例AML病例。发现12例(11.9%)存在这种特定的复发性RUNX1/RUNX1T1基因重排阳性。9例(75%)为男性,3例(25%)为女性。参与者的平均年龄为42岁。最常见的临床特征是面色苍白。血红蛋白、血小板和白细胞总数的平均值分别为8 g/dl、41.5×10⁹/L和71.4×10⁹/L。骨髓穿刺显示,在所有成熟型急性髓系白血病(AML-M2)阳性病例中,红细胞生成、血小板生成和粒细胞生成均受抑制。AML-M2的原始细胞平均百分比为58%。在这些阳性患者中也发现了Auer小体。

结论

在AML-M2 FAB亚型的AML患者中鉴定这种融合蛋白具有重要价值,因为它具有预后和治疗意义。

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