ACTA ENDOCRINOLOGICA (BUC)

Neurofibromatosis type 1 (NF-1) is an autosomal dominant inherited syndrome affecting 1 per 3000-4000 individuals. Patients with the neurofibromin gene mutation are more likely to develop malignancies. We report the case of a 57-year-old female with NF-1 who presented during her lifetime three neoplasms: endometrial cancer, adrenocortical carcinoma (ACC) and gastrointestinal stromal tumor (GIST). We describe the clinical, radiological and histopathological features of this rare condition. There have been reported only 10 cases of ACC together with NF-1 and 18 cases of ACC with other tumors. To the best of our knowledge it is the first reported case of NF-1 diagnosed with three cancers. Our report indicates the importance of careful and all-embracing care of patients with NF-1 in order to make a thorough investigation of any symptoms that might be a manifestation of a malignant disease.

Background. Ganglioneuroma (GN) is a rare, benign, neuroblastic tumor. It may arise from the sympathetic plexus or adrenal medulla. Its most common location is the posterior mediastinum (41.5%), while in approximately 21% of patients the tumor is located in the adrenal gland. Median age of adults at diagnosis is approximately 40 to 50 years of age. Since GN is most commonly asymptomatic, the diagnosis is usually accidental, i.e. when radiological examinations are performed due to other indications. This slow-growing tumor can reach a large size. In a small percentage of patients the tumor secretes catecholamines. We present five ganglioneuroma patients, who were hospitalized in our Department from 1993 through 2012. Their mean age was 31 years. In four cases the tumor was located in the adrenal gland and in one - extra-adrenally, which was revealed during surgery. In three out of five presented cases pathological hormone secretion by the tumor was confirmed in laboratory results.