多发性内分泌腺瘤2型所致双侧嗜铬细胞瘤的临床治疗初探讨

发布时间：2018-10-24 11:17

【摘要】：目的:多发性内分泌腺瘤2型疾病(MEN-2),从遗传学上分析,显性遗传的基因病变位于常染色体,在临床上为罕见病,关于此病的资料研究及科研也较少。本文通过对山东省立医院中心院区泌尿外科近20年来收治的相关病例进行整理分析,共发现12例MEN-2型病例,分析并比较该病的家族遗传特性及预后,为进一步认识、诊断及处理该罕见疾病并改善病人预后提供参考和临床依据。本文并对近来关于MEN-2型病征的文献资料整理汇总,形成综述,主要总结了该病的基因诊断的新的进展及在此基础上的预防性治疗。材料及方法:本文通过对我科过往收治病患病例的整理、归类,时间从1992年5月至2016年12月,共发现12例患有多发性内分泌腺瘤2型所致双侧嗜铬细胞瘤的患者,进一步整理、归纳其临床资料,对其临床表现、影像学诊断、生化检查、治疗、预后、术后随访进行客观分析,进一步探讨明确及协助诊断的方法,手术治疗原则及方式。结果:根据12例患者临床病例,全部患者于我院或外院行腹部CT检查,影像学诊断明确双侧肾上腺占位,这其中有6例确诊为甲状腺癌术后,为手术治疗肾上腺占位而住院;5例为因肾上腺占位住院时,同时发现甲状腺占位及双侧肾上腺占位;1例为双侧嗜铬细胞瘤切除术后,行甲状腺B超,明确甲状腺占位。共5例患者有高血压症状,双侧肿瘤最大直径超过6cm的有7个,家族遗传性病例3个(一个族系),1例为术后嗜铬细胞瘤复发。结论:在日常的临床工作中,若遇到患者有高血压、心悸等临床症状,且影像学检查发现双侧嗜铬细胞瘤,必须加做甲状腺B超明确有无甲状腺占位,并进一步确诊是否为甲状腺髓样癌。有上述征象者高度怀疑为多发性内分泌瘤患者,若有条件可加做RET基因检测明确诊断。目前的治疗手段主要是手术切除或预防性切除,当嗜铬细胞瘤与其它肿瘤同时存在时,宜首先切除嗜铬细胞瘤,避免先做其它肿瘤引起高血压危象。
[Abstract]:Objective: multiple endocrine adenoma type 2 disease (MEN-2), from the genetic analysis, dominant genetic lesions located in the autosomal, clinical is a rare disease, the disease of the data and scientific research is less. In this paper, 12 cases of MEN-2 type were found by sorting out and analyzing the related cases of urology in central hospital of Shandong Provincial Hospital in recent 20 years. The familial genetic characteristics and prognosis of the disease were analyzed and compared. Diagnosis and treatment of this rare disease and improve the prognosis of patients provide reference and clinical basis. In this paper, the recent literature on MEN-2 type is summarized, and the new advances in gene diagnosis and prophylactic treatment on this basis are summarized. Materials and methods: from May 1992 to December 2016, 12 patients with bilateral pheochromocytoma caused by multiple endocrine adenoma type 2 were found in our department. The clinical manifestations, imaging diagnosis, biochemical examination, treatment, prognosis and postoperative follow-up were analyzed objectively, and the methods of definite and assisting diagnosis, principles and methods of surgical treatment were discussed. Results: according to the clinical cases of 12 patients, all the patients underwent abdominal CT examination in our hospital or outside hospital, and the imaging diagnosis confirmed bilateral adrenal mass. Among them, 6 cases were diagnosed as thyroid carcinoma after operation. In order to treat adrenal occupying site, 5 cases were found thyroid occupying and bilateral adrenal mass, and 1 case was treated with thyroid B ultrasound after bilateral pheochromocytoma. There were 5 patients with hypertension, 7 patients with bilateral tumor whose maximum diameter exceeded 6cm, 3 familial hereditary cases (one family), and 1 patient with recurrence of pheochromocytoma after operation. Conclusion: in daily clinical work, if there are clinical symptoms such as hypertension, palpitation, and bilateral pheochromocytoma found by imaging examination, thyroid B ultrasound must be added to determine whether there is thyroid occupying or not. And further confirmed whether the thyroid medullary carcinoma. The patients with these signs were highly suspected to be multiple endocrine neoplasms and could be diagnosed by RET gene test. At present, the main treatment is surgical resection or prophylactic resection. When pheochromocytoma and other tumors exist at the same time, it is advisable to remove pheochromocytoma first to avoid the risk of hypertension caused by other tumors.
【学位授予单位】：山东大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R736.6

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