神经纤维瘤病1型相关嗜铬细胞瘤并小肠间质瘤1例报告并文献复习

Pheochromocytoma and gastrointestinal stromal tumor in a patient with neurofibromatosis syndrome:a case report and literature review

目的提高对1型神经纤维瘤病(neurofibromatosis type 1,NF1)相关腹部肿瘤的认识及诊治水平。方法分析1例嗜铬细胞瘤(pheochromocytoma,PHEO)并有小肠间质瘤(gastrointestinal stromal tumour,GIST)的NF1的临床资料,结合文献复习,检索相似病例,对临床资料、治疗及预后进行分析。结果男,37岁,CT示右肾上腺占位。因小肠穿孔急诊行剖腹探查,切除部分小肠,病理示小肠GIST。药物准备4周后行腹腔镜右肾上腺肿瘤切除术,病理示组合性PHEO。文献检索到18例,共19例病例,男9例,女10例,平均年龄54岁;肾上腺PHEO 9例(9/19)为双侧,5例(5/19)为组合性PHEO;GIST累及胃4例(4/19),小肠16例(16/19),结肠2例(2/19),且大多为多发性病变(13/17),7例(7/7)检测均无KIT和PDGFRA基因突变。手术治疗后多无复发。结论 NF1可同时合并PHEO和GIST,GIST多为多发性病变,患有GIST的NF1接受手术前应排查有无PHEO,PHEO可导致围手术期心血管并发症的高风险。此类疾病手术治疗预后良好。

Objective To improve the diagnosis and treatment of abdominal neoplasms of NF1. Methods The clinical features of PHEO and GIST in a patient with NF1 were described. A review of the literature was conducted to identify patients with NF1 with concurrence of PHEO and GIST and to define the specific clinical features of these patients. Results A 37-year-old male with NF1 presented with PHEO of the right adrenal gland and GIST of small intestinal. In addition to this patient, 18 other cases of NF1 with concomitant occurrence of PHEO and GIST had been reported. Nine cases were male and 10 cases were female, with an average age at presentation of 54 years, 9 cases of PHEO（9/19） were bilateral, 5 cases（5/19） had a composite PHEO; GIST involved the stomach for 4 cases（4/19）, the small intestine for 16 cases（16/19）, the colon for 2 cases（2/19）, and most of the multiple lesions（13/17）, 7 cases（7/7） showed no somatic mutations in KIT and PDGFRA genes. No recurrence were observed after surgery. Conclusion The simultaneous occurrence of PHEO and GIST should be considered in all patients with NF1 presenting with an abdominal mass with symptoms suggestive of PHEO. Therefore,PHEO should be excluded before a patient with NF1 undergoes surgery for GIST because an undiagnosed PHEO carries a high risk of cardiovascular complications during surgery. Surgical treatment for such diseases is the preferred treatment and the prognosis is good.