Cargando…

Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction

Immunophenotypic characterization of leukemic cells with the use of flow cytometry (FC) is a fundamental tool in acute lymphoblastic leukemia (ALL) diagnostics. A variety of genetic aberrations underlie specific B-cell precursor ALL (BCP-ALL) subtypes and their identification is of great importance...

Descripción completa

Detalles Bibliográficos
Autores principales: Kulis, Jan, Sędek, Łukasz, Słota, Łukasz, Perkowski, Bartosz, Szczepański, Tomasz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407579/
https://www.ncbi.nlm.nih.gov/pubmed/36011285
http://dx.doi.org/10.3390/genes13081374
_version_ 1784774398503288832
author Kulis, Jan
Sędek, Łukasz
Słota, Łukasz
Perkowski, Bartosz
Szczepański, Tomasz
author_facet Kulis, Jan
Sędek, Łukasz
Słota, Łukasz
Perkowski, Bartosz
Szczepański, Tomasz
author_sort Kulis, Jan
collection PubMed
description Immunophenotypic characterization of leukemic cells with the use of flow cytometry (FC) is a fundamental tool in acute lymphoblastic leukemia (ALL) diagnostics. A variety of genetic aberrations underlie specific B-cell precursor ALL (BCP-ALL) subtypes and their identification is of great importance for risk group stratification. These aberrations include: ETV6::RUNX1 fusion gene, Philadelphia chromosome (BCR::ABL1 fusion gene), rearrangements of the KMT2A, TCF3::PBX1 fusion gene and changes in chromosome number (hyperdiploidy and hypodiploidy). Diagnostic panels for BCP-ALL usually include B-cell lineage specific antigens: CD19, CD10, CD20, maturation stage markers: CD34, CD10, CD38, TdT, IgM and other markers useful for possible genetic subtype indication. Some genetic features of leukemic cells (blasts) are associated with expression of certain antigens. This review comprehensively summarizes all known research data on genotype-immunophenotype correlations in BCP-ALL. In some cases, single molecules are predictive of particular genetic subtypes, i.e., NG2 with KMT2A gene rearrangements or CD123 with hyperdiploidy. However, much more information on possible genotype or prognosis can be obtained with wider (≥8-color) panels. In several studies, a quantitative antigen expression scale and advanced statistical analyses were used to further increase the specificity and sensitivity of genotype/immunophenotype correlation detection. Fast detection of possible genotype/immunophenotype correlations makes multicolor flow cytometry an essential tool for initial leukemia diagnostics and stratification.
format Online
Article
Text
id pubmed-9407579
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-94075792022-08-26 Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction Kulis, Jan Sędek, Łukasz Słota, Łukasz Perkowski, Bartosz Szczepański, Tomasz Genes (Basel) Review Immunophenotypic characterization of leukemic cells with the use of flow cytometry (FC) is a fundamental tool in acute lymphoblastic leukemia (ALL) diagnostics. A variety of genetic aberrations underlie specific B-cell precursor ALL (BCP-ALL) subtypes and their identification is of great importance for risk group stratification. These aberrations include: ETV6::RUNX1 fusion gene, Philadelphia chromosome (BCR::ABL1 fusion gene), rearrangements of the KMT2A, TCF3::PBX1 fusion gene and changes in chromosome number (hyperdiploidy and hypodiploidy). Diagnostic panels for BCP-ALL usually include B-cell lineage specific antigens: CD19, CD10, CD20, maturation stage markers: CD34, CD10, CD38, TdT, IgM and other markers useful for possible genetic subtype indication. Some genetic features of leukemic cells (blasts) are associated with expression of certain antigens. This review comprehensively summarizes all known research data on genotype-immunophenotype correlations in BCP-ALL. In some cases, single molecules are predictive of particular genetic subtypes, i.e., NG2 with KMT2A gene rearrangements or CD123 with hyperdiploidy. However, much more information on possible genotype or prognosis can be obtained with wider (≥8-color) panels. In several studies, a quantitative antigen expression scale and advanced statistical analyses were used to further increase the specificity and sensitivity of genotype/immunophenotype correlation detection. Fast detection of possible genotype/immunophenotype correlations makes multicolor flow cytometry an essential tool for initial leukemia diagnostics and stratification. MDPI 2022-07-31 /pmc/articles/PMC9407579/ /pubmed/36011285 http://dx.doi.org/10.3390/genes13081374 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 Review
Kulis, Jan
Sędek, Łukasz
Słota, Łukasz
Perkowski, Bartosz
Szczepański, Tomasz
Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction
title Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction
title_full Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction
title_fullStr Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction
title_full_unstemmed Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction
title_short Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction
title_sort commonly assessed markers in childhood bcp-all diagnostic panels and their association with genetic aberrations and outcome prediction
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407579/
https://www.ncbi.nlm.nih.gov/pubmed/36011285
http://dx.doi.org/10.3390/genes13081374
work_keys_str_mv AT kulisjan commonlyassessedmarkersinchildhoodbcpalldiagnosticpanelsandtheirassociationwithgeneticaberrationsandoutcomeprediction
AT sedekłukasz commonlyassessedmarkersinchildhoodbcpalldiagnosticpanelsandtheirassociationwithgeneticaberrationsandoutcomeprediction
AT słotałukasz commonlyassessedmarkersinchildhoodbcpalldiagnosticpanelsandtheirassociationwithgeneticaberrationsandoutcomeprediction
AT perkowskibartosz commonlyassessedmarkersinchildhoodbcpalldiagnosticpanelsandtheirassociationwithgeneticaberrationsandoutcomeprediction
AT szczepanskitomasz commonlyassessedmarkersinchildhoodbcpalldiagnosticpanelsandtheirassociationwithgeneticaberrationsandoutcomeprediction