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Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA

Optical genome mapping (OGM) is a new genome-wide technology that can reveal both structural genomic variations (SVs) and copy number variations (CNVs) in a single assay. OGM was initially employed to perform genome assembly and genome research, but it is now more widely used to study chromosome abe...

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Autores principales: Coccaro, Nicoletta, Anelli, Luisa, Zagaria, Antonella, Tarantini, Francesco, Cumbo, Cosimo, Tota, Giuseppina, Minervini, Crescenzio Francesco, Minervini, Angela, Conserva, Maria Rosa, Redavid, Immacolata, Parciante, Elisa, Macchia, Maria Giovanna, Specchia, Giorgina, Musto, Pellegrino, Albano, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252312/
https://www.ncbi.nlm.nih.gov/pubmed/37296693
http://dx.doi.org/10.3390/diagnostics13111841
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author Coccaro, Nicoletta
Anelli, Luisa
Zagaria, Antonella
Tarantini, Francesco
Cumbo, Cosimo
Tota, Giuseppina
Minervini, Crescenzio Francesco
Minervini, Angela
Conserva, Maria Rosa
Redavid, Immacolata
Parciante, Elisa
Macchia, Maria Giovanna
Specchia, Giorgina
Musto, Pellegrino
Albano, Francesco
author_facet Coccaro, Nicoletta
Anelli, Luisa
Zagaria, Antonella
Tarantini, Francesco
Cumbo, Cosimo
Tota, Giuseppina
Minervini, Crescenzio Francesco
Minervini, Angela
Conserva, Maria Rosa
Redavid, Immacolata
Parciante, Elisa
Macchia, Maria Giovanna
Specchia, Giorgina
Musto, Pellegrino
Albano, Francesco
author_sort Coccaro, Nicoletta
collection PubMed
description Optical genome mapping (OGM) is a new genome-wide technology that can reveal both structural genomic variations (SVs) and copy number variations (CNVs) in a single assay. OGM was initially employed to perform genome assembly and genome research, but it is now more widely used to study chromosome aberrations in genetic disorders and in human cancer. One of the most useful OGM applications is in hematological malignancies, where chromosomal rearrangements are frequent and conventional cytogenetic analysis alone is insufficient, necessitating further confirmation using ancillary techniques such as fluorescence in situ hybridization, chromosomal microarrays, or multiple ligation-dependent probe amplification. The first studies tested OGM efficiency and sensitivity for SV and CNV detection, comparing heterogeneous groups of lymphoid and myeloid hematological sample data with those obtained using standard cytogenetic diagnostic tests. Most of the work based on this innovative technology was focused on myelodysplastic syndromes (MDSs), acute myeloid leukemia (AML), and acute lymphoblastic leukemia (ALL), whereas little attention was paid to chronic lymphocytic leukemia (CLL) or multiple myeloma (MM), and none was paid to lymphomas. The studies showed that OGM can now be considered as a highly reliable method, concordant with standard cytogenetic techniques but able to detect novel clinically significant SVs, thus allowing better patient classification, prognostic stratification, and therapeutic choices in hematological malignancies.
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spelling pubmed-102523122023-06-10 Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA Coccaro, Nicoletta Anelli, Luisa Zagaria, Antonella Tarantini, Francesco Cumbo, Cosimo Tota, Giuseppina Minervini, Crescenzio Francesco Minervini, Angela Conserva, Maria Rosa Redavid, Immacolata Parciante, Elisa Macchia, Maria Giovanna Specchia, Giorgina Musto, Pellegrino Albano, Francesco Diagnostics (Basel) Review Optical genome mapping (OGM) is a new genome-wide technology that can reveal both structural genomic variations (SVs) and copy number variations (CNVs) in a single assay. OGM was initially employed to perform genome assembly and genome research, but it is now more widely used to study chromosome aberrations in genetic disorders and in human cancer. One of the most useful OGM applications is in hematological malignancies, where chromosomal rearrangements are frequent and conventional cytogenetic analysis alone is insufficient, necessitating further confirmation using ancillary techniques such as fluorescence in situ hybridization, chromosomal microarrays, or multiple ligation-dependent probe amplification. The first studies tested OGM efficiency and sensitivity for SV and CNV detection, comparing heterogeneous groups of lymphoid and myeloid hematological sample data with those obtained using standard cytogenetic diagnostic tests. Most of the work based on this innovative technology was focused on myelodysplastic syndromes (MDSs), acute myeloid leukemia (AML), and acute lymphoblastic leukemia (ALL), whereas little attention was paid to chronic lymphocytic leukemia (CLL) or multiple myeloma (MM), and none was paid to lymphomas. The studies showed that OGM can now be considered as a highly reliable method, concordant with standard cytogenetic techniques but able to detect novel clinically significant SVs, thus allowing better patient classification, prognostic stratification, and therapeutic choices in hematological malignancies. MDPI 2023-05-24 /pmc/articles/PMC10252312/ /pubmed/37296693 http://dx.doi.org/10.3390/diagnostics13111841 Text en © 2023 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
Coccaro, Nicoletta
Anelli, Luisa
Zagaria, Antonella
Tarantini, Francesco
Cumbo, Cosimo
Tota, Giuseppina
Minervini, Crescenzio Francesco
Minervini, Angela
Conserva, Maria Rosa
Redavid, Immacolata
Parciante, Elisa
Macchia, Maria Giovanna
Specchia, Giorgina
Musto, Pellegrino
Albano, Francesco
Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA
title Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA
title_full Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA
title_fullStr Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA
title_full_unstemmed Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA
title_short Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA
title_sort feasibility of optical genome mapping in cytogenetic diagnostics of hematological neoplasms: a new way to look at dna
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252312/
https://www.ncbi.nlm.nih.gov/pubmed/37296693
http://dx.doi.org/10.3390/diagnostics13111841
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