多发性内分泌腺瘤2A的诊治(附2例报告)

目的　提高对多发性内分泌腺瘤2A(MEN2A)的认识及诊治水平。方法　总结 2 例 MEN2A的诊治经验,并结合文献进行讨论。结果　B超、CT、MRI及131I 间 碘苄胍(MIBG)检查发现甲状腺肿块及嗜铬细胞瘤,血清降钙素及血、尿儿茶酚胺测定异常;例1 行嗜铬细胞瘤切除及甲状腺全切并淋巴结清扫术,随诊至今无复发;例 2 行双侧嗜铬细胞瘤切除及甲状腺穿刺活检术,术后随访9个月,效果良好。结论　行内分泌及影像学检查可诊断此病,肾上腺嗜铬细胞瘤切除及甲状腺全切并淋巴结清扫术是治疗的主要手段,高危家族的基因检测筛选及早期手术是治愈本病的关键。     

Ⅱ型多发性内分泌腺瘤病2例报告

<正>例1,女,32岁。因左侧甲状腺肿物一年入院。3年前曾行右侧肾上腺嗜铬细胞瘤切除术。心悸,气短,易激动,食欲不佳。BP110/75 mmHg(1mmHg=0.133kPa),贫血貌,腹部可见一横行手术瘢     

Ⅱb型多发性内分泌腺瘤1例报告并文献复习

目的：提高对Ⅱb型多发性内分泌腺瘤（MEN－Ⅱb）的认识。方法：总结1例MEN－Ⅱb的诊治经验,并结合文献进行讨论。结果：B超、CT检查发现嗜铬细胞瘤并甲状腺肿块及皮肤粘膜神经纤维瘤;行嗜铬细胞瘤切除术及双侧叶甲状腺肿瘤切除并淋巴清扫术,术后随访2个月,效果良好。结论：本病的早期诊断有赖于提高认识,选择适当的内分泌及影像学检查,并作严密的家系调查：如嗜铬细胞瘤并发其他肿瘤,宜先行嗜铬细胞瘤切除术,然后再处理其他肿瘤。是否全切双侧肾上腺应依具体情况而定。     

Ⅱa型多发性内分泌腺瘤病1例

1 临床资料 Ⅱa型多发性内分泌腺瘤系常染色体显性遗传性疾病,临床上十分罕见,我院2001-03收治1例,女,38岁,以阵发性头晕,头痛2年,加重1月为主诉入院,伴胸闷,心悸,气促,多汗及四肢乏力不适,病情发作时血压达210/110     

多发性内分泌肿瘤2b型(附一例报告并文献复习)

目的：提高对2b型多发性内分泌肿瘤（MEN2b)的认识,探讨其诊治方法。方法：诊治1例MEN2b病人。该病人同时患有双侧嗜铬细胞瘤、双侧甲状腺髓样癌、多发性粘膜神经瘤、先天性巨结肠、骨骼系统变等。行嗜铬细胞瘤切除术及甲切状腺切除、颈淋巴清除术。进行家系调查,结合文献进行讨论。结论：术后恢复良好,仅口服补充甲状腺激素,随访5个月效果良好。结论：提高认识、选择适当的检查是诊断MEN2b的关键。家系调查和基因诊断很有必要。宜先行嗜铬细胞瘤切除后再处理其他肿瘤。对各发病腺体的处理方式依具体情况而定。     

以嗜铬细胞瘤为主要表现的多发性内分泌腺瘤

目的：探讨以嗜铬细胞瘤为主要表现的多发性内分泌腺瘤（MEN）的诊治。方法：3例以嗜铬细胞瘤为主要表现的MEN,均行单侧肾上腺切除术,其中例1 、例2为同胞组妹均诊断为嗜铬细胞瘤并发甲状腺髓样癌,属MRN－Ⅱa型,行甲状腺全切加同侧淋巴结清扫术;例3为嗜铬细胞瘤并发胰岛素瘤,属MEN混合型,同时行嗜铬细胞瘤、胰岛素瘤切除术。结果：3例手术切除效果良好。例1术后6年死于其他疾病,例2术后已生存23年无复发,例3术后血压、血糖、血胰岛素恢复正常,随访6个月无复发。结论：提高对本病的认识,选择适当的内分泌和影像学等检查手段,是早期诊断的关键。MEN中嗜铬细胞并发其他肿;且先行嗜铬细胞瘤切除术,是否全切双侧肾上腺应依具有体情况而定,然后再处理其他肿瘤。     

家系多发性内分泌肿瘤诊治及RET原癌基因突变的研究

目的 探讨多发性内分泌肿瘤( MEN)的临床诊治特点及RET原癌基因检测的临床意义。 方法 家系中诊断MEN患者3例,男1例,50岁;女2例,38岁和33岁。2例行双侧肾上腺全切术：1例行保留双侧肾上腺的肾上腺嗜铬细胞瘤切除术。3例均行甲状腺全切+颈部淋巴结清扫术。家系中12名成员抽血,提取基因组DNA,对RET原癌基因第10、11外显子行PCR检测,对PCR产物进行基因测序。 结果 3例患者病理诊断为双肾上腺嗜铬细胞瘤+甲状腺髓样癌。38岁、33岁女患者及男患者术后分别随访5年、4年2个月、1年6个月,均无肿瘤复发或转移。3例均检测到RET原癌基因第11外显子TGC→CGC( Cys634 Arg)错义突变,使编码氨基酸由半胱氨酸变成精氨酸。家系其他成员中发现2名该突变基因携带者。 结论 对MEN高危家族的RET原癌基因检测筛选及早期手术干预是治愈MEN的关键。     

Ⅱ型多发性内分泌腺瘤病

目的 提高对Ⅱ型多发性内分泌腺瘤内（ＭＥＮⅡ）的认识。方法 总结３例ＭＥＮⅡ的诊治经验,结合文献进行讨论。结果 ３例均为ＭＥＮⅡａ,Ｂ超及ＣＴ检查同时发现双侧多病灶的甲状腺髓样癌及嗜铬细胞瘤,予以手术切除。结论 此病罕见,甲状腺髓样癌及嗜铬细胞瘤双侧多病灶发病是其主要临床特点,Ｂ超及ＣＴ是术前诊断的主要手段,甲状腺髓样癌根治术和及时发现并切除嗜铬细胞瘤是治疗关键。     

含嗜铬细胞瘤的多发性内分泌腺瘤的临床特征及围术期麻醉管理

目的 研究含嗜铬细胞瘤的多发性内分泌腺瘤（MEN）的临床特征及围术期麻醉管理。方法 回顾性总结我院1977年4月至2001年4月收治的含里程铬细胞瘤的MEN病例，收集并分析病人一般资料，临床表现，家族史，生化检查，MEN类型，外科手术的次序，麻醉方法以及术中血液动力学变化情况。结果 共收集研究12例含嗜铬细胞瘤的MEN病例，这12例病人占同期住院治疗嗜铬细胞瘤病例的5.6%(12/213)。其中9例病人表现为MENⅡa型（Sipple综合征），3例为MEN混合型，在MENⅡa型中4例病人有家族史，有5例同时合并有其它内分泌疾病的嗜铬细胞瘤病人第一次手术为嗜铬细胞瘤切除术，其中仅有2例入院主诉为高血压症状，7例没有高血压症状的MEN病人第二次手术为嗜铬细胞瘤切除术，8例嗜铬细胞瘤切除术在全身麻醉下进行，4例在硬膜外麻醉下进行，有8例接受嗜铬细胞瘤切除术的病人在切除嗜铬细胞瘤前后，血液动力学波动明显，无围术期死亡病例。结论 在MEN病人中，嗜铬细胞瘤可能以主要临床表现与其它内分泌疾病相关，但更多的情况下是以无症状肿瘤的形式与其它内分泌疾病共存，认为到这一特性，对于提高嗜铬细胞瘤及MEN病人的诊疗水平具有重要的意义。     

Ⅲ型多发性内分泌瘤病

作者从１９８７年３月至１９９４年５月共收治３例多发性内分泌瘤病－Ⅲ型，他们均有特征性面容、类马凡氏体型、唇舌粘膜多发性神经瘤和甲状腺随样癌；１例并发恶性嗜铬细胞瘤表现；均无类似家庭史。１例经手术治疗已随访７年多，尚无癌复发和嗜铬细胞瘤发生，作者认为本病治疗的关键是根治甲状腺髓样癌和及时发现并切除嗜咯细胞瘤。     

Multiple endocrine neoplasia type 2B

We report a case of multiple endocrine neoplasia type 2B (MEN 2B) in a 30-year-old woman. There was no family history of MEN 2B in her family. DNA testing was carried out and a point mutation was found in exon 16, codon 918 (ATG to ACG) in the RET proto-oncogene. The woman died of medullary thyroid carcinoma, 13 years after a total thyroidectomy.     

多内分泌功能性嗜铬细胞瘤的临床诊治(附3例报告)

目的:探讨多内分泌功能性嗜铬细胞瘤的临床、病理、组织化学特性和诊治方法及预后。方法:回顾性分析3例多内分泌功能性嗜铬细胞瘤患者的临床资料,并结合文献复习就其诊治方法予以讨论。结果:1例行开放性右肾上腺肿瘤切除术,术后血压恢复正常,Cushing综合征表现明显减轻;1例行后腹腔镜下右肾上腺区肿物切除术,术后患者腹泻消失,定期复查血钾正常;另1例死于高血压危象。结论:多内分泌功能性嗜铬细胞瘤病因尚不明确,其中分泌促皮质激素表现为Cushing综合征者相对较多,但临床易漏诊误诊。正确的诊断思路和充分的实验室检查及术前准备是诊疗的关键;治疗方式上以后腹腔镜下或开放切除肾上腺肿瘤为主。     

Iodine 123 metaiodobenzylguanidine radio-guided navigation surgery for recurrent medullary thyroid carcinoma in a girl with multiple endocrine neoplasia type 2B

Multiple endocrine neoplasia type 2B (MEN 2B) is an inherited cancerous syndrome characterized by medullary thyroid carcinoma (MTC), adrenal pheochromocytoma, marfanoid habitus, and enteric ganglioneuromatosis. In this syndrome, a high frequency of persistent elevation of the serum calcitonin level, a sensitive marker for MTC, after total thyroidectomy has been reported, and the prognosis of such patients depends upon complete resection of recurrent MTC by repeated surgery. The authors performed iodine 123 metaiodobenzylguanidine (¹²³I-MIBG) radio-guided navigation surgery for recurrent MTC in a 14-year-old girl with MEN 2B. She had undergone 4 neck operations, including total thyroidectomy at the age of 7 years. An intravenous injection of 100 MBq ¹²³I-MIBG was followed by the fifth surgery. At surgery, the cervical and upper mediastinal areas were filled with adhesional scar tissue, in which a γ-scintillation probe conducted hot spots of isotope uptake by cancerous cells. Histopathology of resected specimens showed scattered nests of MTC cells corresponding to γ-scintillation counts. Intraoperative ¹²³I-MIBG scanning is of substantial benefit for children with MEN 2B undergoing surgery for recurrent MTC.     

German medullary thyroid carcinoma/multiple endocrine neoplasia registry

Introduction: A national registry for medullary thyroid carcinoma (MTC) and multiple endocrine neoplasia type 2 (MEN2) was set up to evaluate epidemiological, clinical and prognostic factors of the sporadic and hereditary forms of MTC. Patients and methods: Coded data from 1217 patients with MTC from 57 participating centers in Germany were registered and statistically analyzed. The series included 515 (42%) males (mean age 43.1±16.1 years) and 702 (58%) females (mean age 44.4±17.6 years), with a mean follow-up of 5.2 years; 865 (71%) exhibited the sporadic form and 352 (29%) the familial form (244 MEN2a, 32 MEN2b, 76 FMTC). The mean age at diagnosis was 49 years for sporadic and 30 years for the familial form. Results: Of the patients, 17% presented at stage I, according to the UICC, and 30%, 45%, and 8% presented at stages II, III, and IV, respectively. There were 12% of patients who died of the disease. The overall adjusted survival rate was 87% at 5 years, and 76% at 10 years. In a univariate analysis, the stage of disease at diagnosis, age, gender, and form were relevant prognostic factors. In a multivariate proportional-hazards analysis, the difference between patients with sporadic and familial disease disappeared. Conclusion: As the tumor stage at presentation is the major prognostic factor, early diagnosis and surgical intervention before cervical lymph node metastases appear is necessary to improve survival especially in sporadic cases. Received: 28 January 1998 / Accepted: 3 July 1998     

Multiple endocrine neoplasia

Summary The MEN syndromes continue to be the focus of considerable interest and research. Since successful treatment requires early diagnosis, proper screening and follow-up of patients at risk is important. In the individual at risk for developing MEN IIa, annual screening should include measurement of the basal and stimulated plasma CT levels, and determination of plasma levels of calcium, PTH, and CEA. Twenty-four hour urine excretion rates of norepinephrine, epinephrine, metanephrine, dopamine, and VMA should also be obtained. It is our recommendation that this screening be continued through the third decade of life. Patients having thyroidectomy for MTC need to be tested annually for recurrent MTC and the development of adrenal medullary disease. All patients at risk for developing MEN IIb should be evaluated in a similar fashion. Recently, several groups using DNA linkage analysis have mapped the gene for MEN IIa to chromosome 10, althought the exact location of the gene is yet to be determined.^50,51 Preliminary linkage studies have mapped the gene for MEN I to chromosome 11.⁵² The identification of the genes for MEN I and MEN II will greatly simplify the diagnosis of the disease and perhaps also the therapy of affected patients. This report is the gist of a paper read by S.A. Wells, Jr. at the 87th Annual Meeting of the Japan Surgical Society, Tokyo, Japan, 1989