Mamlock V, Nichols M, Lockhart L, Mamlock R (1989): Trisomy 18 and Ilepatoblastoma. Am J Med Gen 33:125-126.

These authors report an infant with trisomy 18 who is discovered to have a hepatoblastoma at autopsy performed after death from other causes. This case represents the second literature report of an individual with trisomy 18 and hepatoblastoma suggesting that infants with this chromosomal syndrome may be at risk for this embryonal tumor.

Comment:
In addition to the occurrence of case reports of infants with trisomy 18 and hepatoblastoma, there are two literature reports of individuals with trisomy 18 who developed a Wilms tumor. Fawcett, et al. reported two other girls with trisomy 18 who developed a Wilms tumor, (at the Western Society for Pediatric Research meetings in February of 1991, Clinical Research 39:96A). The authors are also aware of two children in Europe with trisomy 18 and a Wilms tumor. Given the frequency of survivors in trisomy 18 and the incidence of Wilms tumor, one would expect only one case of both disorders in the United States reported thus far in this century and there are in fact at least four known in the U.S. in the last 25 years. Thus. it appears that children with trisomy 18 are at an increased risk to develop a Wilms tumor. The pattern in these four children is somewhat different than the average Wilms tumor case since three of them were five years of age or older. This observation, plos the fact that there have been a few individuals with msomy 18 who are detected to have a nodular renal blatema at autopsy (which is thought to repreent a potential premalignant lesion) supports the notion of a true relationship.

From a clinical point of view, this inforation suggests that routine ultrasound of the abdominal cavity in older infants with trisomy I 8 is warranted. These tumor associations are also of some significance for those interested in the biology of tumorigenesis in individuals with chromosonial disorders and malformation syndromes. Perhaps the hepatoblastoma and the Wilms tumor predisposition in children with trisomy 18 will provide some insight in the pathogenesis of these embryonal tumors.