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

被引:10
作者
Coccaro, Nicoletta [1 ]
Anelli, Luisa [1 ]
Zagaria, Antonella [1 ]
Tarantini, Francesco [1 ]
Cumbo, Cosimo [1 ]
Tota, Giuseppina [1 ]
Minervini, Crescenzio Francesco [1 ]
Minervini, Angela [1 ]
Conserva, Maria Rosa [1 ]
Redavid, Immacolata [1 ]
Parciante, Elisa [1 ]
Macchia, Maria Giovanna [1 ]
Specchia, Giorgina [2 ]
Musto, Pellegrino [1 ]
Albano, Francesco [1 ]
机构
[1] Univ Bari Aldo Moro, Dept Precis & Regenerat Med & Ionian Area DiMePRe, Hematol & Stem Cell Transplantat Unit, I-70124 Bari, Italy
[2] Univ Bari Aldo Moro, Sch Med, I-70124 Bari, Italy
关键词
cytogenetics; hematologic neoplasms; optical genome mapping; CHRONIC LYMPHOCYTIC-LEUKEMIA; STRUCTURAL VARIATION; LYMPHOBLASTIC-LEUKEMIA; MULTIPLE-MYELOMA; STIMULATION; ABERRATIONS; CELLS; CLASSIFICATION; PROLIFERATION; PROGNOSIS;
D O I
10.3390/diagnostics13111841
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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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页数:17
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