Identifying prognostic gene panels in acute myeloid leukemia

Sánchez‐García, Joaquín; Serrano, Josefina; Torre, Esther Prados de la; Serrano‐López, Juana; Aparicio-Pérez, Clara; Barragán, Eva; Montesinos, Pau

doi:10.1080/17474086.2023.2193322

Cited by 1 publication

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“…OGM can identify novel translocations leading to gene disruption or new fusions involving genes that can be important drivers of cancer pathogenesis and also of targeted therapy [3]; one such example is a novel balanced translocation involving UBE3C and MSI2 fusion identified as a single chromosomal rearrangement in acute myeloid leukemia (AML) [3]. Moreover, OGM is particularly useful in defining rearrangements involving genes with multiple possible partners, such as KMT2A, MECOM, ETV6, NUP98, or IGHV in hematological malignancies; these rearrangements are usually investigated using FISH with two color gene specific break-apart probes, which are not, however, able to identify the partner gene [31,32]. In this respect, an example is the identification via OGM of a rare NUP98::TNRC18 fusion gene in an AML patient [33].…”

Section: Advantages Of Ogm Techniquementioning

confidence: 99%

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

et al. 2023

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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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