Mediastinal atypical carcinoid and neurofibromatosis type 1

We report a case of mediastinal atypical carcinoid in a 63-year-old woman with neurofibromatosis type 1 (NF-1), who presented with shortness of breath and a bulky mediastinal mass. Initial consideration was given to a neurogenic tumor. However, on thoracoscopic biopsy, the histologic appearance was consistent with an atypical carcinoid. Carcinoid tumors have been reported in association with NF-1 previously, but commonly in such unusual sites as the ampulla of Vater and duodenum and not in the thorax. The bulky, extensive, and highly vascular nature of the lesion precluded resection or debulking surgery. To our knowledge, there are no previous reports of atypical carcinoid of the lung or mediastinum in a patient with neurofibromatosis. This case report, therefore extends the spectrum of solid neoplasia in general and carcinoid tumors in specific, as they occur in association with NF-1.