Aspects of the neoplasms observed in patients with constitutional autosomal trisomy

A review of the literature reveals numerous clinical case reports, systematic histologic analyses, epidemiologic studies, and large series of tumors showing that subjects with trisomy 8, 9, 13, 18, and 21 have an excess of hematologic and various solid tumors compared to the general population. These tumors more frequently affect particular organs for a given type of trisomy. A large proportion of the tumors are observed during fetal and neonatal life, are incompletely developed, and subsequently regress. In older children or even adults, tumors are less frequent, are often found on the same organs as earlier in life, are more aggressive, and do not involute. The mechanism responsible for the development of these neoplasms could be similar to that which generates the malformations in these children and may result from cooperation of the chromosomal abnormality with physiologic growth phenomena, which are particularly active early in life. Trisomic subjects must be carefully followed in order to detect tumors as early as possible and to allow treatment under optimal conditions.