Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes

Soft-tissue and bone tumors represent a heterogeneous group of tumors encompassing more than 100 histologic subtypes today. Identifying genetic aberrations increasingly is important in these tumors for accurate diagnosis. Although gene mutations typically are detected by second-generation sequencing, the identification of structural variants (SVs) and copy number alterations (CNAs) remains challenging and requires various cytogenetic techniques including karyotyping, fluorescence in situ hybridization, and arrays, each with important limitations.

Source: Journal of Molecular Diagnostics - February 21, 2024 Category: Pathology Authors: Jef Baelen, Barbara Dewaele, Maria Debiec-Rychter, Raphael Sciot, Patrick Sch öffski, Daphne Hompes, Friedl Sinnaeve, Hazem Wafa, Isabelle Vanden Bempt Tags: Regular article Source Type: research