Ⅰ型神经纤维瘤病合并双侧腹膜后恶性肿瘤1例报告并文献复习

NeurofibromatosisⅠ with bilateral malignant retroperitoneal tumor:a case report and literature review

目的探讨Ⅰ型神经纤维瘤病合并恶性外周神经鞘瘤与恶性嗜铬细胞瘤的临床、病理学特征,提高对此类疾病的诊疗认知水平。方法回顾性分析我院收治的1例Ⅰ型神经纤维瘤病合并不同性质恶性肿瘤的临床资料,总结归纳其临床及病理特征,并结合相关文献,分析此类疾病的相关特征及治疗预后。结果本例患者成功施行双侧腹膜后恶性肿瘤切除术,术后左侧提示恶性外周神经鞘瘤,免疫组化示:S-100(+),Ki-67(+),SMA(-),HMB45(-),右侧示恶性嗜铬细胞瘤,免疫组化示:Syn(+),CgA(+),Ki-67(+),皮肤结节病理提示神经纤维瘤。术后1月后给予IVP化疗方案化疗6个疗程,随访半年余,未见肿瘤复发或转移。结论Ⅰ型神经纤维瘤病同时合并恶性外周神经鞘瘤与恶性嗜铬细胞瘤为临床十分罕见病例,恶性程度相对较高,预后较差。治疗以手术治疗为主,辅以化疗等相关治疗具有一定疗效,但具体疗效仍需相关临床随访观察。

Objective To explore the clinical and pathological features of neurofibromatosis I combined with malignant peripheral nerve sheath tumor （MPNST） and malignant pheochromocytoma, as to improve the level of diagnosis and treatment of this disease. Methods Clinical data of 1 case of neurofibromatosis I with two different malignant tumors were retrospectively analyzed and relevant literature was reviewed. Results The operation was performed and bilateral retroperitoneal tumors were successfully removed. The pathological results showed that the left tumor was MPNST. Immunohistochemical staining showed： S-100（＋）, Ki-67（＋）, SMA（-）, HMB45（-）. The right tumor was malignant pheochromocytoma. Immunohistochemical staining showed： Syn（＋）, CgA（ ＋）, Ki-67 （＋）. The skin nodules were proved to be neurofibroma. Six sessions of chemotherapy regimens of IVP were given to the patient a month later after the surgery. No tumor recurrence or metastasis was detected. Conclusions Neurofibromatosis I combined with MPNST and malignant pheochromocytoma is a rare event. An appropriate surgery with adjuvant chemotherapy might be effective to some extent. But the prognosis of this disease is poor for it＇s high degree of malignancy. More relevant studies are needed for further observation.