Array comparative genomic hybridisation in haematological malignancies: A comprehensive review

Abstract

Background: Haematologic malignancies have diverse and complex genomic abnormalities, and the correct identification is essential for making the appropriate diagnosis, providing a prognosis, and planning treatment. Improved array comparative genomic hybridisation (array CGH) can provide high-resolution, genome-wide copy number variation detection, and overcomes conventional cytogenetic limitations. Aim: The aim of this study is to determine the role of array CGH in characterising genomic aberrations of haematologic malignancies, focusing on technical advantages, added diagnostic values, and implications for disease reclassification and precision medicine. Methods: A comprehensive literature search of PubMed, Embase, Web of Science, and Scopus was conducted to identify studies evaluating the diagnostic performance and clinical utility of array CGH in haematologic cancers. Results: Array CGH detects genomic alterations at kilobase-level resolution and reveals additional abnormalities in approximately 30% of cases with normal results by conventional cytogenetics. It improves molecular subtyping, identifies novel prognostic marker and, when combined with single nucleotide polymorphism arrays, enables detection of uniparental disomy and copy-neutral loss of heterozygosity, thereby enhancing diagnostic yield. Conclusion: Array CGH detects up to 90% of known genomic abnormalities in haematologic malignancies, and its integration with other genomic platforms will considerably enhance diagnostic precision and clinical care for haematopoietic neoplasms. What this study adds: This review emphasises the important role of array CGH’s greater sensitivity to clinically relevant copy number changes compared to routine cytogenetics. Clinical applications of array CGH support precision oncology, especially when combined with single nucleotide polymorphism array or next-generation sequencing technologies.