Tumor Profile, Clinical Features, and Outcomes in Individuals With Constitutional Trisomy 8: A Systematic Review of Case Reports and Case Series.
Ehsan Taherifard, Alexandre Theron, Erfan Taherifard et al.
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From the abstract
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.
Reported results
Thirty-seven studies describing 47 individuals with CT8M and tumors were identified. A female predominance was observed (25/45, 55.5%), and age at malignancy diagnosis ranged from 1 to 84 years, with most cases occurring in childhood or adolescence. Over half of the individuals had a normal appearance (52.3%), while approximately one third exhibited a typical CT8M phenotype (28.5%).
Authors' conclusions
Our findings suggest a distinctive cancer profile characterized by a marked predominance of myeloid neoplasms, often with an onset several decades earlier than expected and in the absence of overt syndromic features. The observed pattern may reflect the biological consequences of increased gene dosage and transcriptional dysregulation associated with constitutional trisomy 8, although the underlying mechanisms…