MLPA在急性髓系白血病患者初步基因筛查中的应用。

IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Romanian Journal of Internal Medicine Pub Date : 2024-03-23 Print Date: 2024-03-01 DOI:10.2478/rjim-2023-0027
Dinnar Yahya, Mari Hachmeriyan, Tsanka Ruseva, Trifon Chervenkov, Ilina Micheva
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引用次数: 0

摘要

引言:本研究旨在评估多重连接酶依赖性探针扩增(MLPA)在急性髓系白血病(AML)患者初始基因筛查中的有效性,因为目前的风险分层和临床管理依赖于分子遗传标记。方法:我们对2022年2月至2023年2月期间来自瓦尔纳UMHAT“St.Marina”临床血液学诊所的新诊断患者进行了前瞻性病例对照研究。MLPA是一种基于半定量PCR的方法,用探针检测40例AML/骨髓增生异常综合征的典型遗传变化。我们将这些发现与平行进行的细胞遗传学分析进行了比较,细胞遗传学分析是常规诊断过程的一部分。结果:我们评估了61名患者——29名女性和32名男性,女性的中位年龄为61岁,男性为65岁(最小-最大20-89岁)。34例(56%)有病理结果,其余27例(44%)无病理结果。在34个基因中,22个(65%)在NPM1、DNMT3A、FLT3和IDH2基因中存在单一基因变体,无论是分离的还是组合的。在同一34条染色体中,有18条(53%)在第4、5、6、7、11、14、17和21号染色体上也有拷贝数畸变(CNA)。后者要么是孤立的,要么与其他发现相结合。18例中有8例也进行了细胞遗传学分析,两种方法在4例中一致。结论:MLPA是一种除细胞遗传学分析外的初步遗传评估方法。尽管如此,仍需要更多的患者对其是否适合常规使用得出有限的结论。考虑到正常结果的显著百分比(44%),同时评估当前指南中包含的更多遗传标记是合理的。
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MLPA in the initial genetic screening of patients with acute myeloid leukemia.

Introduction: This study aimed to assess the effectiveness of multiplex ligase-dependent probe amplification (MLPA) in the initial genetic screening of patients with acute myeloid leukemia (AML) since current risk stratification and clinical management depend on molecular-genetic markers.

Methods: We performed a prospective case-control study on newly diagnosed patients from the Clinical hematology clinic of UMHAT "St. Marina", Varna, for the period 02.2022 - 02.2023. MLPA - a semiquantitative PCR-based method, was implemented with probes for 40 AML/myelodysplastic syndrome-typical genetic changes. We compared these findings with a parallelly carried out cytogenetic analysis, part of the routine diagnostic process.

Results: We assessed 61 patients - 29 females and 32 males, median age of 61 years for females and 65 for males (min-max 20-89). 34 (56%) of all showed pathological results, while the rest 27 (44%) did not. Of the 34, 22 (65%) had a single gene variant in genes NPM1, DNMT3A, FLT3, and IDH2, isolated or in combination. 18 (53%) of the same 34 also had copy number aberration (CNA) in chromosomes 4, 5, 6, 7, 11, 14, 17, and 21. The latter were either isolated or in combination with other findings. 8 of the 18 cases also underwent cytogenetic analysis, with concordance between the two methods in 4.

Conclusion: MLPA is an informative method for initial genetic assessment in addition to cytogenetic analysis. Still, more patients are needed to draw finite conclusions on its eligibility for routine use. Given the significant percentage of normal results - 44%, simultaneous evaluation of more genetic markers, included in current guidelines, is reasonable.

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来源期刊
Romanian Journal of Internal Medicine
Romanian Journal of Internal Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
3.20
自引率
5.30%
发文量
35
审稿时长
15 weeks
期刊介绍: Romanian Journal of Physics is a journal publishing physics contributions on the following themes: •Theoretical Physics & Applied Mathematics •Nuclear Physics •Solid State Physics & Materials Science •Statistical Physics & Quantum Mechanics •Optics •Spectroscopy •Plasma & Lasers •Nuclear & Elementary Particles Physics •Atomic and Molecular Physics •Astrophysics •Atmosphere and Earth Science •Environment Protection
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