<abstract xmlns="http://www.w3.org/1999/xhtml">
<sec><h3>Introduction:</h3>
<p>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.</p>
</sec>
<sec><h3>Methods:</h3>
<p>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.</p>
</sec>
<sec><h3>Results:</h3>
<p>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.</p>
</sec>
<sec><h3>Conclusion: </h3>
<p>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.</p>
</sec>
</abstract>

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.

MLPA in the initial genetic screening of patients with acute myeloid leukemia

Department of Medical Genetics, Faculty of Medicine

Faculty of Medicine, Medical University of Department of Internal Diseases

Romanian Journal of Internal Medicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"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...

MLPA in the initial genetic screening of patients with acute myeloid leukemia

Published Online: Mar 23, 2024

Page range: 44 - 51

Received: Aug 28, 2023

DOI: https://doi.org/10.2478/rjim-2023-0027

Keywords
leukemia, myeloid, acute, genetic markers, genetic techniques, diagnosis, prognosis

© 2024 Dinnar Yahya et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

MLPA in the initial genetic screening of patients with acute myeloid leukemia

Published Online: Mar 23, 2024

Page range: 44 - 51

Received: Aug 28, 2023

DOI: https://doi.org/10.2478/rjim-2023-0027

Keywordsleukemia, myeloid, acute, genetic markers, genetic techniques, diagnosis, prognosis

© 2024 Dinnar Yahya et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
leukemia, myeloid, acute, genetic markers, genetic techniques, diagnosis, prognosis