Chromosome Karyotyping in Hematological Malignancies: Current Status and Future Directions

Abstract

Chromosome karyotyping, particularly G-banding, is a fundamental diagnostic and prognostic tool for hematological malignancies, providing a genome-wide view of large-scale numerical and structural chromosomal abnormalities. Its clinical utility is paramount for disease classification, risk stratification, and the evaluation of hematopoietic stem cell transplantation (HSCT) across diseases such as acute myeloid leukemia (AML), chronic lymphocytic leukemia (CLL), multiple myeloma (MM), and myelodysplastic syndromes (MDS). However, clinical challenges including low resolution and culture failure necessitate complementary advanced techniques. Fluorescence in situ hybridization (FISH) targets specific aberrations in non-dividing cells, while array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism (SNP) arrays offer higher resolution for detecting cryptic copy number variations (CNVs) and copy-neutral loss of heterozygosity (CN-LOH). Furthermore, the modern diagnostic standard has evolved into a multi-omics approach that integrates morphology, flow cytometry, karyotyping, and next-generation sequencing (NGS). This comprehensive workflow significantly enhances diagnostic accuracy, refines risk stratification, and informs personalized therapeutic strategies. Clinically, karyotyping is essential for assessing cytogenetic remission, though it is less sensitive for minimal residual disease (MRD) detection than molecular methods. As emerging technologies such as optical genome mapping (OGM) demonstrate the potential to streamline these workflows, karyotyping continues to evolve, solidifying its indispensable role in the comprehensive management of hematologic cancers.

Keywords

Hematological malignancies / Chromosome karyotyping / Cytogenetics / G-banding / Optical genome mapping / Multi-omics / Acute myeloid leukemia

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Funding

National Natural Science Foundation of China(82300235)

Shanghai Municipal Health Commission Talent Plan Youth Project(2022YQ031)

Sanhang Talent program of Naval medical university(25TPSL0003)

Scientific Research Project of the Health Commission of Changning District, Shanghai(20254Y033)

RIGHTS & PERMISSIONS

The Author(s), under exclusive licence to the Huazhong University of Science and Technology