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

ABSTRACT

BACKGROUND: Neurofibromatosis with gastrointestinal stromal tumours have been reported several times, while neurofibromatosis with retroperitoneal stromal tumours are very rare. CASE DESCRIPTION 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. CONCLUSIONS: 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.