Genetic Aspects of Endocrine Neoplasia

Endocrine tumors in children are not common; hence, very little is known about their pathogenesis. The great bulk are probably environmentally induced like their adult counterparts. A few occur as components of certain heritable syndromes where the basic gene mutation presumably directly predisposes to tumor formation. This latter assumption is probably unprovable since a remote secondary rather than a pleiotropic effect of the gene may actually promote tumor development. It does appear, however, that whether primary or secondary, some mutant genes do render their possessor unusually susceptible to malignancy, and this susceptibility behaves as a mendelizing trait with varying degrees of penetrance and expressivity depending upon the gene in question. The topic has been reviewed in some detail [1].