Array comparative genomic hybridisation in haematological malignancies: A comprehensive review

Area of Science:

• Genomics
• Hematology
• Oncology

Background:

• Hematologic malignancies present complex genomic abnormalities crucial for diagnosis, prognosis, and treatment.
• Conventional cytogenetics has limitations in detecting these intricate genomic alterations.
• Array comparative genomic hybridization (array CGH) offers high-resolution, genome-wide copy number variation detection.

Purpose of the Study:

• To evaluate the role of array CGH in characterizing genomic aberrations in hematologic malignancies.
• To focus on the technical advantages, diagnostic value, and implications for disease reclassification and precision medicine.
• To determine the clinical utility of array CGH in hematologic cancers.

Main Methods:

• A comprehensive literature search was performed across major scientific databases (PubMed, Embase, Web of Science, Scopus).
• Studies evaluating the diagnostic performance and clinical utility of array CGH in hematologic cancers were identified.
• The search focused on array CGH's ability to detect genomic alterations.

Main Results:

• Array CGH detects genomic alterations at kilobase-level resolution, identifying additional abnormalities in ~30% of cases with normal conventional cytogenetics.
• It enhances molecular subtyping and identifies novel prognostic markers.
• Combined with single nucleotide polymorphism arrays, it detects uniparental disomy and copy-neutral loss of heterozygosity, increasing diagnostic yield.

Conclusions:

• Array CGH detects up to 90% of known genomic abnormalities in hematologic malignancies.
• Integration with other genomic platforms like SNP arrays and next-generation sequencing enhances diagnostic precision.
• Array CGH supports precision oncology through its superior sensitivity to copy number changes compared to routine cytogenetics.