Optical genome mapping in myelofibrosis: enhancing prognostic accuracy through high-resolution genomic profiling.

ABSTRACT:

Abstract

Accurate genomic stratification is essential for guiding therapeutic decisions in myelofibrosis (MF), particularly regarding allogeneic stem cell transplant. Conventional chromosome banding analysis (CBA), however, has limited resolution and provides an informative karyotype in only about half of patients with MF. In a prospective series of 107 patients with primary or secondary MF, we compared optical genome mapping (OGM) plus targeted next-generation sequencing with CBA. OGM generated interpretable cytogenetic data for every sample, whereas CBA succeeded in fewer than half. In addition, OGM revealed structurally complex alterations and copy-neutral loss of heterozygosity that conventional methods missed. Integration of OGM results into contemporary prognostic models, inc

SUBMITTER: Diaz-Gonzalez A 

PROVIDER: S-EPMC12828823 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature