Clinicopathological Significance of Common Genetic Alterations in Patients With Acute Promyelocytic Leukemia.

Q1 Medicine

Hematology/ Oncology and Stem Cell Therapy Pub Date : 2022-06-01 DOI:10.1016/j.hemonc.2020.07.004

Sukanta Nath, Jina Bhattacharyya, Prem Chandra, Renu Saxena, Sudha Sazawal, Kandarpa Kumar Saikia

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引用次数: 5

Abstract

Objective/background: Acute myeloid leukemia (AML) is one of the common forms of hematological malignancy and acute promyelocytic leukemia (APL) is a unique subtype of AML conferring favorable prognosis. We aimed to determine the prevalence and prognostic impact of Fms-like tyrosine kinase 3 (FLT3), nucleophosmin 1 (NPM1) mutation, epidermal growth factor receptor (EGFR), and flow marker's expression in patients with APL.

Methods: In the present study, 165 de novo APL patients were molecularly characterized for promyelocytic leukemia (PML) breakpoint and additional genetic alterations. Reverse transcriptase polymerase chain reaction (PCR) and real-time PCR assays were used to detect genetic alterations.

Results: PML/RARα was detected in 29/165 (17.5%) samples with breakpoint cluster region 1 (bcr1) in 17/29 (58.5%) and bcr3 in 12/29 (41.5%) samples. The prevalence of FLT3-ITD, NPM1, and EGFR were detected in 5/29 (17.5%), 11/29 (38%), and 5/29 (17.5%) patients, respectively. Patients expressing bcr-3 hybrid transcript had lower overall survival compared with bcr1 ( p = .254). White blood cell (WBC) count was significantly higher in bcr3 in comparison with bcr1 patients ( p = .002). Patients with positive EGFR expression ( p = .042) and higher WBC ( p = .002) were significantly associated with poor survival ( p < .05).

Conclusions: We documented the higher prevalence of bcr1 and confirmed that the association of FLT3-ITD significantly reduced the chances of survival in APL. The mortality rate of bcr3 was comparatively higher than that of bcr1. Higher WBC count and EGFR expression were significantly associated with poor survival.

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急性早幼粒细胞白血病患者常见基因改变的临床病理意义。

目的/背景:急性髓性白血病(AML)是一种常见的血液系统恶性肿瘤，而急性早幼粒细胞白血病(APL)是AML中一种独特的亚型，具有良好的预后。我们旨在确定APL患者中fms样酪氨酸激酶3 (FLT3)、核磷蛋白1 (NPM1)突变、表皮生长因子受体(EGFR)和血流标志物表达的患病率及其对预后的影响。方法:在本研究中，165例新发APL患者的早幼粒细胞白血病(PML)断点和其他遗传改变的分子特征。采用逆转录聚合酶链反应(PCR)和实时PCR检测基因改变。结果:PML/RARα在29/165(17.5%)样本中检出，断点簇区1 (bcr1)在17/29 (58.5%)，bcr3在12/29(41.5%)。FLT3-ITD、NPM1和EGFR的检出率分别为5/29(17.5%)、11/29(38%)和5/29(17.5%)。与bcr1相比，表达bcr-3混合转录本的患者总生存率较低(p = 0.254)。bcr3患者的白细胞计数明显高于bcr1患者(p = 0.002)。EGFR阳性表达(p = 0.042)和较高WBC (p = 0.002)的患者与较差的生存率显著相关(p < 0.05)。结论:我们记录了bcr1的较高患病率，并证实FLT3-ITD的相关性显著降低了APL患者的生存机会。bcr3的死亡率相对高于bcr1。较高的WBC计数和EGFR表达与较差的生存率显著相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Hematology/ Oncology and Stem Cell Therapy Medicine-Hematology

CiteScore

4.30

自引率

0.00%

发文量

审稿时长

27 weeks

期刊介绍： Hematology Oncology and Stem Cell Therapy is an international, peer-reviewed, open access journal that provides a vehicle for publications of high-quality clinical as well as basic science research reports in hematology and oncology. The contents of the journal also emphasize the growing importance of hematopoietic stem cell therapy for treatment of various benign and malignant hematologic disorders and certain solid tumors.The journal prioritizes publication of original research articles but also would give consideration for brief reports, review articles, special communications, and unique case reports. It also offers a special section for clinically relevant images that provide an important educational value.