Acquired ring chromosomes in hematological malignancies: A systematic evidence review for diagnostic advances, cytogenomic insights, and clinical significance by an International Consortium on Human Ring Chromosomes (ICHRC) working group.

Recent studies have described acquired ring chromosomes (aRCs), marker chromosomes, and extrachromosomal DNA (ecDNA) in various tumors. However, the genomic copy number aberrations (CNAs) and gene rearrangements within these aRCs require further genomic analysis, and the knowledge base to interpret their clinical implications remains largely unformed. A working group was organized by the International Consortium of Human Ring Chromosomes (ICHRC) to conduct a systematic evidence review of the role of aRCs in hematologic malignancies. This retrospective review summarizes the current molecular cytogenetic and genomic technologies for aRC analysis, presents an overview of the types of aRCs in various hematological malignancies, and provides evidence to support cytogenomic analysis and diagnostic interpretation. The findings from this study recommend an integrated cytogenomic analysis for aRCs and prompt further functional analyses to elucidate the molecular mechanisms for disease causation and targeted treatment.