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

Authors :
Nicoletta Coccaro
Luisa Anelli
Antonella Zagaria
Francesco Tarantini
Cosimo Cumbo
Giuseppina Tota
Crescenzio Francesco Minervini
Angela Minervini
Maria Rosa Conserva
Immacolata Redavid
Elisa Parciante
Maria Giovanna Macchia
Giorgina Specchia
Pellegrino Musto
Francesco Albano
Source :
Diagnostics, Vol 13, Iss 11, p 1841 (2023)
Publication Year :
2023
Publisher :
MDPI AG, 2023.

Abstract

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.

Details

Language :
English
ISSN :
13111841 and 20754418
Volume :
13
Issue :
11
Database :
Directory of Open Access Journals
Journal :
Diagnostics
Publication Type :
Academic Journal
Accession number :
edsdoj.50243c36f6fe4f5a829cf10b26071654
Document Type :
article
Full Text :
https://doi.org/10.3390/diagnostics13111841