Neurofibromatosis type-1 with retroperitoneal stromal tumour: one case report

Neurofibromatosis with gastrointestinal stromal tumours have been reported several times, while neurofibromatosis with retroperitoneal stromal tumours are very rare.

We report the case of a 44-year-old man with a long history of neurofibromatosis. He complained of severe constipation and left leg pain. The patient's examination showed prominent peripheral cutaneous neurofibromas mainly in the belly and limbs, especially a huge mass in his abdomen, no less than ten café-au-lait spots, four Lisch nodules of the iris. Computed tomography and magnetic resonance imaging revealed a round and lobular mass in the retroperitoneal space. It was a well-circumscribed, hypervascular mass with cystic necrosis. A surgical resection was performed, and pathology and immunohistochemistry findings were consistent with stromal tumour. The c-kit gene and platelet-derived growth factor receptor-α gene mutations are not observed in the specimen.

Neurofibromatosis with retroperitoneal stromal tumour is very rare, and radiological, pathological and immunohistochemical examination may identify it. Surgical resection may be the unique method of cure for it.