Cytogenetic Assessment and Risk Stratification in Myelofibrosis with Optical Genome Mapping.

ABSTRACT: Cytogenetic assessment in myelofibrosis is essential for risk stratification and patient management. However, an informative karyotype is unavailable in a significant proportion of patients. Optical genome mapping (OGM) is a promising technique that allows for a high-resolution assessment of chromosomal aberrations (structural variants, copy number variants, and loss of heterozygosity) in a single workflow. In this study, peripheral blood samples from a series of 21 myelofibrosis patients were analyzed via OGM. We assessed the clinical impact of the application of OGM for disease risk stratification using the DIPSS-plus, GIPSS, and MIPSS70+v2 prognostic scores compared with the standard-of-care approach. OGM, in combination with NGS, allowed for risk classification in all cases, compared t

SUBMITTER: Diaz-Gonzalez A 

PROVIDER: S-EPMC10252182 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature