Optical genome mapping reveals balanced and unbalanced genetic changes associated with tumor‐forming potential in an early‐stage prostate cancer epithelial subline (M2205)

Molecular Genetics & Genomic Medicine, Journal Year: 2023, Volume and Issue: 12(1)

Published: Oct. 30, 2023

Abstract Background Identifying cytogenetic changes in tumors can aid diagnosis/prognosis and disease management. Complete characterization has historically required a multimethod/time‐consuming approach. Optical genome mapping (OGM) offers potential solution to this challenge by detecting both balanced unbalanced abnormalities single assay. Methods Genetic acquired with tumor‐forming prostate xenograft subline [M2205] (derived from Black male) that were detected using versus OGM analyses compared assess the utility of for analyzing solid tumors. Results Cytogenetic/OGM concordance was noted (a) copy number gains (16, 1p, 3q, 5q, 7p, 8q, 9q, 11p, 11q, 15q, 20q), (b) losses (Y, 3p, 4p, 6p, 9p, 11q), (c) structural changes, including multibreak rearrangements. Discordance two findings, which had breakpoints localized repetitive sequences. The studies identified new findings confirmed/further characterized 8q24 abnormalities. It also genes gained/disrupted region (e.g., MYC, DEPTOR, EXT1) ; but recognizing jumping translocation analyses. Conclusion These results support as tool analyze clinical/research settings. Moreover, analysis expanded present M2205 subline, alterations associated males diagnosed cancer.

Language: Английский

---

Optical genome mapping: technical basis and applications in hematological malignancies

Deleted Journal, Journal Year: 2023, Volume and Issue: 42(2)

Published: Dec. 19, 2023

Cytogenomic analyses of hematological malignancies require the use different techniques, whether combined or on isolation, for detection chromosomal abnormalities.Optical genomic mapping (OGM) is a new technology based analysis long DNA molecules fluorescently labelled in specific sequences that create unique pattern, allowing simultaneous numerical and structural abnormalities with higher sensitivity (up to 5%) precision than karyotyping.The aim this review describe methodological analytical basis OGM, present most relevant findings published date, raise future challenges regarding its implementation diagnostic laboratories.Multiple studies have shown OGM will potentially allow cytogenetic approach patients single test offering resolution (5 Kb vs 5-10 Mb) better characterization conventional techniques.This technique also presents some limitations such as limited 20% copy number alterations, inability detect rearrangements affecting centromeric and/or telomeric regions.Its routine diagnosis practice standardization criteria, validation many identified through technique, comparative prospective define which entities situations it can complement replace current methods.

Language: Английский

---

Acquired Ring Chromosomes in Tumors of Hematopoietic and Lymphoid Tissues

Springer eBooks, Journal Year: 2024, Volume and Issue: unknown, P. 403 - 474

Published: Jan. 1, 2024

Language: Английский

---

Optical Genome Mapping as a New Tool to Overcome Conventional Cytogenetics Limitations in Patients with Bone Marrow Failure

Genes, Journal Year: 2024, Volume and Issue: 15(5), P. 559 - 559

Published: April 27, 2024

Cytogenetic studies are essential in the diagnosis and follow up of patients with bone marrow failure syndromes (BMFSs), but obtaining good quality results is often challenging due to hypocellularity. Optical Genome Mapping (OGM), a novel technology capable detecting most types chromosomal structural variants (SVs) at high resolution, being increasingly used many settings, including hematologic malignancies. Herein, we compared conventional cytogenetic techniques OGM 20 diverse BMFSs. Twenty metaphases for karyotype were only obtained three subjects (15%), no SVs found any samples. One patient culture showed gain chromosome 1q by fluorescence situ hybridization, which was confirmed OGM. In contrast, provided all subjects, detected 14 them (70%), mostly corresponding cryptic submicroscopic alterations not observed standard techniques. Therefore, emerges as powerful tool that provides complete evaluable hypocellular BMFSs, reducing multiple tests into single assay overcoming some main limitations Furthermore, addition confirming abnormalities techniques, new beyond their detection limits.

Language: Английский

---

Fusion Genes in Myeloid Malignancies

Cancers, Journal Year: 2024, Volume and Issue: 16(23), P. 4055 - 4055

Published: Dec. 3, 2024

Fusion genes arise from gross chromosomal rearrangements and have been closely linked to oncogenesis. In myeloid malignancies, fusion play an integral role in the establishment of diagnosis prognostication. clinical management patients with acute leukemia, are deeply incorporated risk stratification criteria guide choice therapy. As a result their intrinsic ability define specific disease entities, oncogenic also immense potential be developed as therapeutic targets biomarkers. current era genomic medicine, breakthroughs innovation sequencing techniques led rise detection novel genes, concept standard-of-care diagnostics continues evolve this field. review, we outline molecular basis, mechanisms action impact genes. We discuss pros cons available methodologies that can used detect To contextualize challenges encountered practice pertaining diagnostic workup malignancies share our experience insights form three case studies.

Language: Английский

---