Malignant phaeochromocytoma in children: A case with neurofibromatosis and review of the literature

Abstract

A boy of 13 with familial neurofibromatosis developed a malignant adrenal phaeochromocytoma, presenting with growth failure and an abdominal mass but no hypertension, with metastases in lungs, lymph nodes and liver, producing dopamine, noradrenaline and adrenaline. Postoperative hypotension and pulmonary oedema proved fatal. Twenty-four case reports of children with malignant phaeochromocytoma were found. Diagnosis, treatment, prognostic and malignancy risk factors are discussed. Malignancy was associated with extraadrenal primary tumour, other inherited or congenital disease especially neurofibromatosis, labile hypertension and females. Two clinicopathologic groups emerged. Cases with widespread metastases had a high incidence of associated inherited or congenital disease, poor response to treatment and poor survival. Cases with metastases confined to lung or local/ regional lymph nodes rarely had associated disease, had good response to treatment and good survival; the possibility that they are really e...