A rare combination of pheochromocytoma and gastrointestinal stromal tumour in a patient with neurofibromatosis 1 syndrome—a case report

Abstract

Neurofibromatosis 1 is a rare inherited autosomal dominant syndrome. It comprises 90 % of neurofibromatosis cases. These patients may develop various types of tumours in early age, especially multiple neurofibromas with a high risk of developing malignant peripheral nerve sheath tumours. Other tumours can also develop like pheochromocytoma, optic nerve and brain stem gliomas, carcinoids and rarely gastrointestinal stromal tumours. A combination of pheochromocytoma and gastrointestinal stromal tumour is very rare. Only a few cases have been reported. Here, we are reporting a case of NF1 syndrome with a combination of pheochromocytoma and gastrointestinal stromal tumour with additional findings of multiple clear cell nodules and brown fat in the periadrenal connective tissue.