Description

Adrenocortical tumors (ACT) are rare cancer types that form in the outer layer of the adrenal gland and are very uncommon in children and teenagers. There is variation in pediatric ACT incidence worldwide. In the United States, only about 25 new cases of ACT per million per year, making this a very rare tumor. However, in southern Brazil, the annual incidence of ACT is 15 times that seen in the United States accounting for 3.4-4.2 per million per year.

Molecular studies have revealed that the majority of children with ACT, particularly those younger than 4 years of age, have constitutional TP53 mutations and/or imprinting defects at chromosome 11p as observed in Beckwith Wiedemann syndrome (BWS) patients. Some mutations, as exemplified by the R337H TP53 germline mutation, in which the function of the mutant protein is relatively preserved, the history of cancer in the carriers and their families is relatively unremarkable. In other cases, the TP53 mutated gene encodes a functionally-impaired protein that predicts for a pervasive history of familial cancer (Li-Fraumeni syndrome). Therefore, these observations have implications for genetic counseling of families with childhood ACT and underscore the importance of genotype-phenotype correlations in familial cancer syndromes.

The creation of a rare tumor registry provides a mechanism to collect information that cannot be gathered in a single institution. The analysis of the registry data would permit an overview of the clinical, epidemiological, current treatment standards, and survival data of these patients and thus create opportunities for research. It also may facilitate the development of treatment consensus among investigators who register their patients and help to design future studies. Moreover, the combined Children's Oncology Group (COG) and IPACTR studies are expected to provide meaningful insight into the biology of ACT, including clinical phenotype/genotype relationships, treatment outcome and long-term follow-up data in subjects with this rare tumor. Finally, it would provide data on the long-term consequences of exposure to tumor-secreted androgens (found in more than 80% of the pediatric cases) on children's growth and development.