A Tumor Profile in Edwards Syndrome (Trisomy 18)

Constitutional trisomy 18 causes Edwards syndrome, which is ă characterized by intellectual disability and a particular set of ă malformations. Although this condition carries high mortality during ă prenatal and early postnatal life, some of the rare infants who survive ă the first months develop benign and malignant tumors. To determine the ă tumor profile associated with Edwards syndrome, we performed a ă systematic review of the literature. This review reveals a tumor profile ă differing from those of Down (trisomy 21) and Patau (trisomy 13) ă syndromes. The literature covers 45 malignancies: 29 were liver cancers, ă mainly hepatoblastomas found in Japanese females; 13 were kidney tumors, ă predominantly nephroblastomas; 1 was neuroblastoma; 1 was a Hodgkin ă disease; and 1 was acute myeloid leukemia in an infant with both trisomy ă 18 and type 1 neurofibromatosis. No instances of the most frequent ă malignancies of early life-cerebral tumors, germ cell tumors, or ă leukemia-are reported in children with pure trisomy 18. Tumor occurrence ă does not appear to correlate with body weight, tissue growth, or cancer ă genes mapping to chromosome 18. Importantly, the most recent clinical ă histories report successful treatment; this raises ethical concerns ă about cancer treatment in infants with Edwards syndrome. In conclusion, ă knowledge of the Edwards' syndrome tumor profile will enable better ă clinical surveillance in at-risk organs (i.e., liver, kidney). This ă knowledge also provides clues to understanding oncogenesis, including ă the probably reduced frequency of some neoplasms in infants and children ă with this genetic condition. (C) 2016 Wiley Periodicals, Inc.