Department of General Surgery, 81st Hospital of PLA, PLA Cancer Center, China.
Scott Med J. 2013 Feb;58(1):e37-40. doi: 10.1177/0036933012474618.
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.
神经纤维瘤病伴胃肠道间质瘤已有多次报道，而神经纤维瘤病伴腹膜后间质瘤则非常罕见。
我们报告了一例 44 岁男性，患有神经纤维瘤病多年。他主诉严重便秘和左腿疼痛。患者体格检查显示主要在腹部和四肢有明显的周围皮肤神经纤维瘤，腹部有一个巨大肿块，不少于十个咖啡牛奶斑，四个虹膜的李施结节。计算机断层扫描和磁共振成像显示腹膜后空间有一个圆形和分叶状肿块。这是一个边界清楚、富含血管的肿块，伴有囊性坏死。行手术切除，病理和免疫组织化学检查结果与间质瘤一致。标本中未观察到 c-kit 基因和血小板衍生生长因子受体-α 基因突变。
神经纤维瘤病伴腹膜后间质瘤非常罕见，影像学、病理学和免疫组织化学检查可识别该病。手术切除可能是其唯一的治愈方法。
