Genomic technologies for detecting structural variations in hematologic malignancies
10.1007/s44313-024-00001-1
- Author:
Mi‑Ae JANG
1
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon‑Ro, Gangnam‑Gu, Seoul 06351, Korea
- Publication Type:REVIEW
- From:Blood Research
2024;59():1-
- CountryRepublic of Korea
- Language:English
-
Abstract:
Genomic structural variations in myeloid, lymphoid, and plasma cell neoplasms can provide key diagnostic, prog‑ nostic, and therapeutic information while elucidating the underlying disease biology. Several molecular diagnostic approaches play a central role in evaluating hematological malignancies. Traditional cytogenetic diagnostic assays, such as chromosome banding and fluorescence in situ hybridization, are essential components of the current diag‑ nostic workup that guide clinical care for most hematologic malignancies. However, each assay has inherent limita‑ tions, including limited resolution for detecting small structural variations and low coverage, and can only detect alterations in the target regions. Recently, the rapid expansion and increasing availability of novel and comprehensive genomic technologies have led to their use in clinical laboratories for clinical management and translational research.This review aims to describe the clinical relevance of structural variations in hematologic malignancies and introduce genomic technologies that may facilitate personalized tumor characterization and treatment.
