在多内分泌肿瘤1型病人中甲状旁腺机能亢进症的初次手术效果

多内分泌肿瘤1型(MEN 1 )是一常染色体显性综合征,常由甲状旁腺机能亢进(HPT)和胰岛细胞肿瘤、脑垂体腺瘤组成。HPT的初次手术是尽量切除多的甲状旁腺组织以使达到正常血钙值,但不能切除过多甲状旁腺组织而致低钙血症。Bethesda国立癌肿研究所外科于1 960～2 0 0 2年曾为92例MEN 1初步施行甲状旁腺切除术,分析切除范围的后果。结果　(一)一般统计　男女之比为47∶45 ,手术时平均年龄3 7岁( 1 6～69岁)。MEN 1表现:功能性胰岛细胞瘤3 4例(其中胃泌素瘤2 9例) ,非功能性2例;垂体腺瘤2 5例,类癌7例。术前症状计肾结石47例、骨痛3 8例、…     

多发性内分泌肿瘤1型相关甲状旁腺功能亢进处理的研究进展

目的 总结多发性内分泌肿瘤1型（multiple endocrine tumors type 1,MEN1）相关原发性甲状旁腺功能亢进（primary hyperparathyroidism,PHPT）的处理方式。方法 对近年来国内外关于MEN1相关PHPT处理的相关文献进行归纳和总结。结果 MEN1相关PHPT的症状明显时,手术是其有效治疗手段,除常规的甲状旁腺全切除加部分自体移植术、甲状旁腺次全切除术外,切除范围较小的小于甲状旁腺次全切除、单腺体切除术也被证实有效。结论 结合MEN1相关PHPT患者的临床表现与甲状旁腺受累情况,个体化地选择适宜的手术时机、手术术式能够帮助MEN1相关PHPT患者获得理想的甲状旁腺功能状态,最大程度上保证MEN1相关PHPT患者的生活质量。     

多发性内分泌肿瘤2型的诊断和外科处理

目的 探讨多发性内分泌肿瘤2型（multiple endocrine neoplasia,MEN2）的诊断和外科处理方法.方法 回顾性研究1997年6月至2006年6月我院诊断和治疗的MEN2患者28例的临床资料.结果 MEN2a型25例,其中23例分属7个家系,均有RET基因11外显子634编码子突变;MEN2b型3例,无家族史,为RET基因16外显子918编码子突变.MEN2a型中22例有甲状腺肿物伴降钙素升高,其中17例经病理证实为甲状腺髓样癌;12例合并嗜铬细胞瘤,其中5例为多发性,2例恶性;5例合并甲状旁腺功能亢进症,3例无临床症状及生化改变.3例MEN2b型均为甲状腺髓样癌合并黏膜神经瘤病和马凡样体形,其中1例伴双侧肾上腺嗜铬细胞瘤.MEN2a型中12例接受双侧甲状腺全切除＋双侧颈淋巴清扫,5例行甲状腺肿物切除;甲状旁腺病变在甲状腺手术时一并处理;9例接受11次肾上腺肿瘤摘除术,3例为双侧肾上腺手术.3例MEN2b型均行双侧甲状腺全切除＋双侧颈淋巴清扫.结论 MEN2型以甲状腺髓样癌为主要病变,基因筛查可帮助早期诊断.根治性甲状腺切除能预防和治疗甲状腺髓样癌.     

多发性内分泌肿瘤相关甲状旁腺病变的现今认识和手术处理

1903年,Erdheim通过尸检报道1例垂体腺瘤（肢端肥大症）合并3个甲状旁腺增生的病例。1912年至1952年,至少有13例类似的垂体腺瘤或增生、甲状旁腺增生及胰岛细胞瘤不同组合的病例报道。1953年，Underdahl报道了8例同时有垂体腺瘤、甲状旁腺增生和胰腺胰岛素瘤的病人，另14例病例上述3个内分泌腺体中2个发生病变。     

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目的 总结原发性甲状旁腺功能亢进的诊治经验。方法 回顾分析中国医科大学附属第一医院普通外科1991—2005年经手术并经病理证实的48例原发性甲状旁腺功能亢进的诊治经验。结果 37例行超声检查的阳性准确率为81．1％（30／37）。35例行ECT检查的阳性准确率为91．4％（32／35）。38例甲状旁腺腺瘤均行单侧探查；6例甲状旁腺增生中4例行单侧探查，2例行双侧探查；3例甲状旁腺癌均参照甲状腺癌行根治性切除和颈部淋巴结功能性清扫术；1例甲状旁腺腺瘤恶变行患侧甲状腺和甲状旁腺全切除。手术后均发生不同程度的低钙血症，应用钙剂后症状缓解。结论 超声和ECT检查可做为诊断甲状旁腺疾病的首选定位诊断方法。定性诊断主要依据血钙和血甲状旁腺素的同步升高，一旦明确诊断即应手术治疗。定位明确的甲状旁腺腺瘤可行单侧探查。     

胰腺内分泌肿瘤的诊断与外科治疗

目的提高胰腺内分泌肿瘤的诊断和治疗水平。方法回顾性分析1978年1月至2004年12月经手术治疗、病理证实的38例胰腺内分泌肿瘤病人的临床资料。结果胰腺内分泌肿瘤以胰岛素瘤和无功能性胰岛细胞瘤最常见,分别占57．9%和36.8%,恶性胰岛素瘤和多发性胰岛素瘤各占胰岛素瘤的13．6%,无功能性胰岛细胞瘤中恶性占64．3%;21例(95%)胰岛素瘤成功术前定位和手术切除,1例多发性胰岛素瘤摘除术后 4年后复发,再次手术治愈;86％无功能性胰岛细胞瘤患者以无痛性肿块入院,肿瘤平均大小为8．5cm,6例行胰体尾部切除,4例行胰十二指肠切除,2例行肿瘤摘除,1例行囊肿内引流术,1例行活检术;全组术后并发胰瘘7例(18%)。结论 B超、CT是胰腺内分泌肿瘤有效的诊断方法,肿瘤局部剜出与规范切除是治疗胰腺内分泌肿瘤的有效方法,其预后较好。     

原发性甲状旁腺功能亢进35例诊治分析

目的探讨原发性甲状旁腺功能亢进（PHPT）的诊断和治疗方法。方法回顾性分析15年间收治的35例PHPT患者的临床资料。结果26例行超声检查的阳性准确率为88.5％（23／26）。22例行放射性计算机X线断层扫描（ECT）检查的阳性准确率为95.5％（21／22）。27例甲状旁腺腺瘤均行单侧探查；3例甲状旁腺癌均参照甲状腺癌行根冶性切除和颈部淋巴结功能性清扫术；4例甲状旁腺增生中2例单侧探查，2例行双侧探查术；1例甲状旁腺腺瘤恶变行患侧的甲状腺和甲状旁腺全切除。其中1例腺瘤并发甲状旁腺危象者经内科紧急处理后急诊手术切除腺瘤，症状缓解。手术后均发生不同程度的低血钙症，应用钙剂后症状缓解。部分患者骨痛缓解或消失。结论超声和ECT可作为首选的定位诊断方法。定性诊断主要依据血钙和血甲状旁腺素的同步升高，一旦明确即应手术治疗。定位明确的甲状旁腺腺瘤可行单侧探查。定位不明确或异位者可在放射性核素指导下行手术探查。甲状旁腺危象应在内科治疗控制症状后积极手术探查。     

中国人原发性甲状旁腺功能亢进10年文献回顾（1995~2004年）

摘要：为系统回顾10年间中国人原发性甲状旁腺功能亢进的发病、诊断、治疗和预后情况。笔者采用计算机检索并收集1995年1月~2004年12月国内期刊有关原发性甲状旁腺功能亢进的临床研究文献43篇，780例患者的临床资料进行统计分析。结果示甲状旁腺腺瘤693例，甲状旁腺增生44例，甲状旁腺癌27例，功能性甲状旁腺囊肿8例。5例未手术，3例手术中未发现病变。全组患者血钙升高82.7%，血PTH升高99.8%；定性诊断主要依靠血钙和血PTH的升高。高频超声、CT和99mTc MIBI的联合应用使超过90%的患者术前获得正确定位。44例增生中有42例采用切除3个半腺体；27例甲状旁腺癌采用患侧腺体和甲状腺联合切除。甲状旁腺腺瘤449例行单侧探查，其中包括72例小切口探查，197例选择双侧探查。15例患者症状复发，再次手术。该资料提示，所有病例都有不同程度误诊史。术前确切定位的原发性甲状旁腺腺瘤可行单侧探查。对于有术中快速检测PTH条件者可行小切口手术切除。     

原发性甲状旁腺肿瘤的诊断和外科治疗:附12例报告

目的探讨甲状旁腺肿瘤的诊断和外科治疗方法。方法回顾性分析近5年余中山大学附属第三医院手术确诊、年龄11～71岁的12例甲状旁腺肿瘤临床资料。包括甲状旁腺癌并甲状腺肿及多发性内分泌腺瘤I型（MEN-1）1例；甲状旁腺囊肿1例；甲状旁腺瘤10例，其中1例为双侧甲状旁腺瘤并MEN-1，1例合并甲状腺肿，1例为异位腺瘤。结果依靠血钙、血磷、B超、CT及99mTc-MIBI等检查10例在术前确诊（2例术后确诊）。8例腺瘤和1例囊肿行单侧探查及甲状旁腺瘤切除；行双侧探查3例，其中1例甲状旁腺瘤并甲状腺肿行双侧甲状腺大部分切除（包括旁腺瘤），1例甲状旁腺癌为MEN-1行根治性切除及切除垂体肿瘤手术，1例甲状旁腺瘤并MEN-1术前行胰岛素瘤和肾上腺皮质瘤切除。平均随访时间38个月。随访期间11例血钙正常，8例无症状生存；1例腺瘤术后对侧甲状旁腺增生，再次手术。结论定位明确的单发甲状旁腺瘤或囊肿可单侧探查，MEN-1和腺癌或伴结节甲状腺肿者应双侧探查。术后密切随访不仅可确定手术效果，而且有利于早期发现复发患者和MEN-I患者。     

Ⅰ型多发性内分泌肿瘤综合征相关胰岛素瘤诊治分析

目的 探讨Ⅰ型多发性内分泌肿瘤综合征（MEN-1）相关胰岛素瘤的诊断与外科治疗策略。方法 回顾性分析北京协和医院自1995年1月至2010年1月诊治有完整病历资料的合并MEN-1的胰岛素瘤21例临床资料。结果 共收集到21例,男6例,女15例。6例有胰腺内分泌肿瘤或MEN-1家族史。9例为多发性,2例为恶性胰岛素瘤。其他腺体中甲状旁腺受累最为常见,其次为垂体、肾上腺。19例接受手术治疗,根据高激素水平对机体影响严重程度采用一期手术、分期手术等多种治疗方案。胰腺手术中肿瘤摘除术应用最为常见,共切除病灶58个,65.5%病灶直径<1cm。5例病人发生B级胰瘘,保守治疗后痊愈。结论 MEN-1相关胰岛素瘤有其特殊临床特点,对于高危人群应提高警惕,术中应全面探查胰腺,配合术中超声、血糖监测等方法,保证切除全部病灶,对于其他受累腺体可一期或后续处理,需与相关科室加强协作及建立必要的转诊制度。     

Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours

BACKGROUND: The appropriate treatment for a sporadic endocrine tumour may be different from those that present as part of the multiple endocrine neoplasia type 1 (MEN1) syndrome. As primary hyperparathyroidism (pHPT) and pancreaticoduodenal endocrine tumours (PETs) are the most common organ manifestations of MEN1, the prevalence of germline mutations in the MEN1 gene was determined in young patients with apparently sporadic pHPT or PETs. METHODS: Eighteen of 705 patients with pHPT and 11 of 93 patients with PETs operated on between 1987 and 2001 had no family history of MEN1, only one organ manifestation and were aged 40 years or less at the time of diagnosis. Fifteen patients with pHPT and eight with PETs agreed to MEN1 gene mutation analysis, which was performed by single-strand conformational variant analysis and direct DNA sequencing. RESULTS: Two of 15 patients (13.3 (95 per cent confidence interval (c.i.) 1.6 to 40.4) per cent) with apparently sporadic pHPT had a MEN1 germline mutation. Both mutations were found in patients with pHPT due to multiglandular disease, whereas the remaining 13 patients had a solitary adenoma. None of the eight patients with PETs carried a MEN1 germline mutation. CONCLUSION: Sporadic pHPT due to multiglandular disease in patients younger than 40 years may represent the first organ manifestation of MEN1 despite a negative family history.     

Parathyroid glands involvement in multiple endocrine neoplasia

Multiple endocrine neoplasias are syndromes characterized by the involvement of at least two endocrine glands. Parathyroid gland involvement is usually noted in Multiple Endocrine Neoplasia (MEN) type I and type II. Parathyroid glands tumor associated with endocrine pancreatic tumor, as well as pituitary tumors is the typical pattern of MEN I. The parathyroid gland is the most frequent abnormality in MEN I. CASES REPORTS: We presented five cases with MEN I and parathyroid glands involvement. In three cases with young ages (28-33 years old) and familial setting, the MEN I syndrome was "complete" (parathyroid adenoma, gastrinoma or insulinoma and pituitary adenoma--prolactinoma or GH-secreting tumors), and, in the other two cases, with 57 and 68 years old respectively, the MEN I syndrome was "incomplete" with parathyroid glands and pituitary gland involvement. The cases with gastrinomas were operated in emergency for complication of peptic ulcer (perforation associated with peritonitis and gastro-intestinal bleeding); then the pancreatic tumors were diagnosed and left pancreatectomy with spleen preservation and respectively, tumor resection have been performed. Hyperparathyrodism was then diagnosed and subtotal parathyroidectomy has been performed in both cases. Unfortunately one patients died due to severe endocrine disorder. During the necropsy, the pituitary adenoma has been diagnosed. The third case with "complete" MEN was a women of 33 years old, admitted for severe hypoglycemia. The imagistic and laboratory test diagnosed a tumor situated into the pancreatic body, and an parathyroid adenoma. The resection of pancreatic tumor associated with resection of the parathyroid adenoma, in the same time, were performed. The other two cases with "incomplete" MEN were older then the first patients, and were diagnosed with hyperparathyrodism and pituitary gland tumor. The resection of parathyroid gland adenoma has been performed in both cases, with uneventful postoperative course. The literature data was also discussed. CONCLUSIONS: The parathyroid glands involvement in MEN is common. There are two kinds of MEN associated with parathyroid gland involvement: the "complete" form, especially in young patients, with diffuse involvement of the parathyroid glands, and the subtotal parathyroidy is the best choice, and the "incomplete" form, especially in elderly, with the involvement of a single parathyroid gland; in this way, the resection of the adenoma associated with biopsy from the other parathyroid gland is the best approach. The presence of gastrinomas, complicate the disease prognosis and the surgical approach. The treatment of these patients is challenging and has to be done in multidisciplinary team.     

Genetic Analysis of a Papillary Thyroid Carcinoma in a Patient with MEN1

Background: MEN1 is an inherited tumor syndrome characterized by the development of tumors of the parathyroid, the anterior pituitary and the pancreatic islets. Tumors of these endocrine glands in MEN1 patients demonstrate loss of heterozygosity (LOH) at the locus of the MEN1 tumor suppressor gene. Menin, the protein encoded by the MEN1 gene, is ubiquitously expressed in endocrine tissue, and less commonly these patients can present with tumors of other endocrine tissues, including thyroid and adrenal. We hypothesize that MEN1 gene mutation may be involved in the oncogenesis of other less common tumors.Methods: We report a MEN1 patient who was found to have metastatic papillary thyroid cancer at the time of neck exploration for hyperparathyroidism. Genetic analysis of tumor tissue was performed using one intragenic (D11S4946) and two flanking (D11S4945 and D11S4940) polymorphic markers.Results: Two of the markers were informative. Consistent with previous studies, there was LOH in the parathyroid adenoma identified with the intragenic marker D11S4946. However, the papillary cancer was found to be heterozygous at two informative markers.Conclusions: The lack of obvious LOH of the MEN1 locus in the papillary cancer suggests that, in contrast to parathyroid adenoma, deletion of the MEN1 tumor suppressor gene is not etiologically related to the oncogenesis of the papillary cancer in this patient.     

Multiple endokrine Neoplasie Typ 1

Primary hyperparathyroidism (pHPT) occurs in about 90% of patients with multiple endocrine neoplasia type 1 (MEN1). In contrast to sporadic pHPT, multiple gland disease is most common in MEN1. The appropriate surgical approach is still controversial. The aim of this study was to analyze the results of surgical therapy of pHPT in patients with genetically confirmed MEN1. In an observational study, preoperative data, operative procedures, long-term results, and a possible genotype-phenotype correlation were analyzed in patients with pHPT and genetically confirmed MEN1. According to our results, tPTX+T (total parathyroidectomy+thymectomy+autotransplantation) seems to be a more favorable surgical approach in patients with MEN1 pHPT than sDE (selective gland exstirpation) and stPTX (subtotal parathyroidectromy) without cervical thymectomy, because recurrences or persistence of the disease are rare. A prospective randomized trial is needed to compare stPTX including cervical thymectomy vs tPTX+T. A genotype-phenotype correlation could not be identified.     

Cystic endocrine tumors of the pancreas: clinical, radiologic, and histopathologic features in 13 cases

Cystic endocrine tumors of the pancreas are rare and raise difficult clinical problems. Our aims were to reevaluate the diagnostic and therapeutic strategy and to assess their histopathologic characteristics. Thirteen cystic endocrine tumors diagnosed in 10 patients were included. Clinical, radiologic, and pathologic data were reviewed. There were 6 male and 4 female patients (median age, 46 yrs). Six patients had evidence of multiple endocrine neoplasia type 1 (MEN1) disease. Four had a functional endocrine syndrome. Ten tumors were visible on imaging studies. The most suggestive radiologic features were the existence of a peripheral hypervascular rim (10 cases) and images of cyst into cyst (two cases). On gross and histologic examinations, two distinct types were present. Macrocystic tumors (six cases) were unilocular and limited by a thick wall containing nests of tumor cells. Microcystic tumors (seven cases) were characterized by the presence of multiple cystic spaces directly lined by tumor cells. Surgical resection was performed in all cases. Three patients had lymph node metastases at the time of diagnosis. One patient is dead with metastatic dissemination. The others are alive without recurrence or metastasis. The diagnosis of endocrine tumor must be considered for any pancreatic cyst discovered in a patient with a history of MEN1 syndrome or with clinical features suggestive of this syndrome. Cystic pancreatic endocrine tumors must be treated by surgical resection because of their possible malignant evolution.     

Diagnosis and treatment of syndrome of multiple endocrine neoplasia type 2

Since 1969 to 2000 twenty one patients from 16 families with syndrome of multiple endocrine neoplasia (MEN) type 2 were examined. Medullary cancer of the thyroid gland (MCTG) was diagnosed in 18 patients, pheochromocytoma--in 15 (in 13 of them--two-sided), primary hyperparathyroidism--in 2. In 9 patients from 5 families syndrome MEN 2 was confirmed genetically (mutation in codon 634 of 11th exon RET in 7 patients with MEN 2a and in codon 918 in 2 patients with MEN 2b). None of the patients had extraadrenal pheochromocytoma, in 9 (60%) patients multicentric tumors within one adrenal gland were diagnosed. All the 18 patients with MCTG underwent extrafascial thyroidectomy with removal of fat and lymph nodes of paratracheal zone, 9 patients--one-sided (6) or two-sided (3) removal of fat and lymph nodes of lateral triangle of neck. Prophylactic thyreoidectomy was performed in 11-year old patient with genetically verified MEN 2a and without topical data of MCTG, 2 patients of 3 and 19 years of age with genetically verified MEN 2 are to undergo prophylactic thyroidectomy. Prophylactic thyroidectomy is necessary in the presence of genetic disorders in members of families with MEN 2 despite absence of structural changes in thyroid gland. Level of basal and stimulated calcitonin may be used as marker of recurrence or metastatic growth only. In MEN 2 after organ-saving operation rate of true recurrence of tumor is high because of genetic damage of medullary layer of adrenal gland.     

Multiple endocrine neoplasia type I

During the 13-year period 1970-1983 only 7 cases of multiple endocrine neoplasia type I (MEN I) were seen at Groote Schuur Hospital, suggesting that the associated gene is rare in this area. Only 1 of these patients was black. Endocrine associations were as follows: hyperparathyroidism--6 cases, pituitary hypersecretion--6 cases (3 each involving growth hormone and prolactin), and pancreatic hypersecretion--3 cases (2 of gastrinoma and 1 of insulinoma). The presenting features were predictably diverse and depended on the component which manifested first. There was little difficulty in reaching a diagnosis on routine investigation. All patients with hyperparathyroidism underwent a 3 1/2-gland parathyroidectomy as the first treatment procedure, normocalcaemia being achieved in 5 cases, but persistent hypercalcaemia in the 6th suggested a supernumerary gland. A pituitary adenoma was removed in 4 cases, but persistent prolactinaemia necessitated bromocriptine therapy in 3. Successful distal pancreatectomy was undertaken in a patient with insulinoma and a patient with gastrinoma, and a further patient with gastrinoma awaits surgery. The overall prognosis in cases of MEN I appears to depend on the most aggressive component, often the pancreatic lesion; our patients have run a surprisingly benign course with only 1 late death, from hypertensive heart disease.     

The Optimal Surgical Treatment for Primary Hyperparathyroidism in MEN1 Patients: A Systematic Review

Background

The optimal surgical approach for patients with primary hyperparathyroidism (pHPT) and multiple endocrine neoplasia 1 (MEN1) is controversial. We sought to determine the optimal type of surgery for pHPT in MEN1.

Methods

We collected data on clinical presentation, surgery, and follow-up for MEN1 patients with pHPT at the University Medical Center Utrecht and affiliated hospitals between 1967 and 2008. Furthermore, we performed a systematic review of the literature and meta-analysis. Surgical procedures were classified into less than subtotal (Results Fifty-two patients underwent primary surgery for pHPT, of which 29 had Conclusion We believe that SPTX is the best surgical therapy for pHPT in MEN1. MEN1 patients with pHPT should not be treated with 相似文献   

2型多发内分泌腺瘤病的诊断及外科治疗

目的探讨2型多发内分泌腺瘤病的临床特点、治疗方法及疗效。方法回顾分析我院1980～2002年诊治的8例2型多发内分泌腺瘤病患者的临床特点、诊断及治疗方法与疗效。结果7例有阵发性高血压,5例最高血压超过200mmHg(1mmHg=0．133kPa),3例查体发现肿瘤。经B超、CT及24h尿儿茶酚胺检查确定诊断,2A型6例,2B型2例;表现为甲状腺髓样癌合并嗜铬细胞瘤伴或不伴甲状旁腺腺瘤或增生(6例),1例伴多发黏膜神经瘤,1例为嗜铬细胞瘤伴有马凡综合征;双侧肾上腺肿瘤7例;分期行肾上腺与甲状腺、甲状旁腺结节切除或次全切除术。术后平均随访9年,效果良好。结论2型多发内分泌腺瘤病的诊断主要依赖相应的内分泌检查及B超和CT检查,手术是主要的治疗手段,当嗜铬细胞瘤与其他肿瘤同时存在时,宜首先切除嗜铬细胞瘤。