SIMULTANEOUS ADRENOCORTICAL CARCINOMA AND GANGLIONEUROBLASTOMA IN A CHILD WITH TURNER-SYNDROME AND GERMLINE P53 MUTATION

The predisposition to malignancy that is dominantly inherited in Li-Fr aumeni syndrome is associated with germline mutations of the tumour su ppressor gene p53. Although second malignant neoplasms have been descr ibed in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been repo rted. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneurob lastoma. Further investigation showed a germline p53 mutation and Turn er syndrome, It remains to be determined what effect the 45,X chromoso mal complement may have on the expression of neoplasms seen in patient s with p53 germline mutations.