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Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia

Flow cytometry technique (FC) is a standard diagnostic tool for diagnostics of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) assessing the immunophenotype of blast cells. BCP-ALL is often associated with underlying genetic aberrations, that have evidenced prognostic significance and can im...

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Autores principales: Kulis, Jan, Wawrowski, Łukasz, Sędek, Łukasz, Wróbel, Łukasz, Słota, Łukasz, van der Velden, Vincent H. J., Szczepański, Tomasz, Sikora, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9100578/
https://www.ncbi.nlm.nih.gov/pubmed/35566407
http://dx.doi.org/10.3390/jcm11092281
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author Kulis, Jan
Wawrowski, Łukasz
Sędek, Łukasz
Wróbel, Łukasz
Słota, Łukasz
van der Velden, Vincent H. J.
Szczepański, Tomasz
Sikora, Marek
author_facet Kulis, Jan
Wawrowski, Łukasz
Sędek, Łukasz
Wróbel, Łukasz
Słota, Łukasz
van der Velden, Vincent H. J.
Szczepański, Tomasz
Sikora, Marek
author_sort Kulis, Jan
collection PubMed
description Flow cytometry technique (FC) is a standard diagnostic tool for diagnostics of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) assessing the immunophenotype of blast cells. BCP-ALL is often associated with underlying genetic aberrations, that have evidenced prognostic significance and can impact the disease outcome. Since the determination of patient prognosis is already important at the initial phase of BCP-ALL diagnostics, we aimed to reveal specific genetic aberrations by finding specific multiple antigen expression patterns with FC immunophenotyping. The FC immunophenotype data were analysed using machine learning methods (gradient boosting, decision trees, classification rules). The obtained results were verified with the use of repeated cross-validation. The t(12;21)/ETV6-RUNX1 aberration occurs more often when blasts present high expression of CD10, CD38, low CD34, CD45 and specific low expression of CD81. The t(v;11q23)/KMT2A is associated with positive NG2 expression and low CD10, CD34, TdT and CD24. Hyperdiploidy is associated with CD123, CD66c and CD34 expression on blast cells. In turn, high expression of CD81, low expression of CD45, CD22 and lack of CD123 and NG2 indicates that none of the studied aberrations is present. Detecting aberrations in pediatric BCP-ALL, based on the expression of multiple markers, can be done with decent efficiency.
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spelling pubmed-91005782022-05-14 Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia Kulis, Jan Wawrowski, Łukasz Sędek, Łukasz Wróbel, Łukasz Słota, Łukasz van der Velden, Vincent H. J. Szczepański, Tomasz Sikora, Marek J Clin Med Article Flow cytometry technique (FC) is a standard diagnostic tool for diagnostics of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) assessing the immunophenotype of blast cells. BCP-ALL is often associated with underlying genetic aberrations, that have evidenced prognostic significance and can impact the disease outcome. Since the determination of patient prognosis is already important at the initial phase of BCP-ALL diagnostics, we aimed to reveal specific genetic aberrations by finding specific multiple antigen expression patterns with FC immunophenotyping. The FC immunophenotype data were analysed using machine learning methods (gradient boosting, decision trees, classification rules). The obtained results were verified with the use of repeated cross-validation. The t(12;21)/ETV6-RUNX1 aberration occurs more often when blasts present high expression of CD10, CD38, low CD34, CD45 and specific low expression of CD81. The t(v;11q23)/KMT2A is associated with positive NG2 expression and low CD10, CD34, TdT and CD24. Hyperdiploidy is associated with CD123, CD66c and CD34 expression on blast cells. In turn, high expression of CD81, low expression of CD45, CD22 and lack of CD123 and NG2 indicates that none of the studied aberrations is present. Detecting aberrations in pediatric BCP-ALL, based on the expression of multiple markers, can be done with decent efficiency. MDPI 2022-04-19 /pmc/articles/PMC9100578/ /pubmed/35566407 http://dx.doi.org/10.3390/jcm11092281 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kulis, Jan
Wawrowski, Łukasz
Sędek, Łukasz
Wróbel, Łukasz
Słota, Łukasz
van der Velden, Vincent H. J.
Szczepański, Tomasz
Sikora, Marek
Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia
title Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia
title_full Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia
title_fullStr Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia
title_full_unstemmed Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia
title_short Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia
title_sort machine learning based analysis of relations between antigen expression and genetic aberrations in childhood b-cell precursor acute lymphoblastic leukaemia
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9100578/
https://www.ncbi.nlm.nih.gov/pubmed/35566407
http://dx.doi.org/10.3390/jcm11092281
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