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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 understanding and diagnosis and treatment of type 1 neoplasms related to neurofibromatosis type 1 (NF1). Methods One case of pheochromocytoma (PHEO) with pathological features of NF1 in the gastrointestinal stromal tumor (GIST) was analyzed. The clinical data, treatment and prognosis were analyzed in combination with the literature review and retrieval of similar cases. Results Male, 37 years old, CT showed right adrenal placeholder. Small bowel puncture emergency laparotomy, resection of part of the small intestine, pathology showed intestinal GIST. Laparoscopic right adrenalectomy was performed 4 weeks after the preparation of the drug and the pathology showed PHEO. Nineteen cases were found in the literature, including 9 males and 10 females, with an average age of 54 years. 9 cases of bilateral adrenal PHEO (9/19) were bilateral and 5 cases (5/19) had combined PHEO. GIST There were 4 cases (4/19) involving the stomach, 16 cases (16/19) of the small intestine and 2 cases (2/19) of the colon, most of which were multiple lesions (13/17). None of the 7 cases (7/7) KIT and PDGFRA gene mutations. No recurrence after surgery. Conclusion NF1 can be combined with PHEO and GIST. GIST is mostly multiple lesions. Patients with GIST should be checked for PHEO before surgery. PHEO can lead to high perioperative cardiovascular complications. Surgical treatment of such diseases with a good prognosis.