Genes, chromosomes & cancer
Tumor Profile, Clinical Features, and Outcomes in Individuals With Constitutional Trisomy 8: A Systematic Review of Case Reports and Case Series
By Taherifard E, Theron A, Taherifard E and 3 others.
Abstract
Background
Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal disorder with poorly characterized cancer risk. This systematic review aimed at summarizing reported cases of malignancy and associated clinical outcomes in individuals with CT8M.
Methods
A systematic literature search was conducted in PubMed, Scopus, Web of Science, Ichushi, and Google Scholar up to January 30, 2026, without restrictions on language and publication date. Case reports and case series reporting individuals with confirmed CT8M and malignancies were included. JBI Critical Appraisal Checklists were used to evaluate the quality of included studies. Data synthesis involved a descriptive approach.