1例Ⅰ型多发性神经纤维瘤儿童的多发性肌纤维瘤和表皮疣状痣表现

Ⅰ型多发性神经纤维瘤病是一种常见的常染色体显性遗传性胚胎神经嵴外胚叶异常的皮肤神经性疾病。Ⅰ型多发性神经纤维瘤病的两个标志性特征是潜在的受累组织范围广和巨大的表型不同的疾病特征,甚至在同一家族中的患者表型也不同。作者发现这例男孩的表现完全符合Ⅰ型多发性神经纤维瘤病诊断标准,其有两种不同寻常的损害:婴儿期肌纤维瘤病和疣状表皮痣。据我们所知以前还未有相关方面的报道。1例Ⅰ型多发性神经纤维瘤儿童的多发性肌纤维瘤和表皮疣状痣表现@De Schepper S. @Janssens S. @Messiaen L. @J.-M. Naeyaert$Departm…     

2型多发性内分泌肿瘤诊治（附2例）

多发性内分泌肿瘤（multiple endocrine neoplasm,MEN）是指一个患者同时有3个以上内分泌腺发生病变,临床多表现为受累的内分泌腺功能亢进.近年我科收治MEN 2a及MEN 2b型各1例,现报告如下.     

RET原癌基因突变致多发性内分泌腺瘤病2b型临床诊治

多发性内分泌腺瘤病（MEN）2b型是RET基因突变引起的常染色体显性遗传病,常见临床表型为甲状腺髓样癌（MTC）、嗜铬细胞瘤、多发性黏膜神经瘤和类马凡体型,各表型可同时或先后发生,易漏诊。本文分析了1例MEN2b型患者病史、诊断、治疗及随访资料。本例患者1995年无诱因出现颈部增粗,诊断为"右甲状腺腺瘤";1999年发现"左侧甲状腺占位";2000年发现舌、唇黏膜增厚并突起小肿物,肿物渐增大;2009年及2010年分别行左、右肾上腺肿物切除,术后病理示：嗜铬细胞瘤。本次入院行下唇内侧局部小突起切除和双侧甲状腺次全切除术,术后病理示：舌黏膜神经瘤、MTC。患者基因测序发现RET基因第16号外显子918密码子突变（M918T）,患者父母、兄均未出现MEN2b表型特征,基因检测无异常发现。患者MTC术后1年降钙素水平仍高于参考值,结合肺部CT检查结果,考虑MTC肺部转移可能性较大。     

多发性内分泌腺瘤病Ⅲ型一例报告

多发性内分泌腺瘤病Ⅱ型(multipleendocrinopathy adenomatosis MEA Ⅱ或称MEAⅡb)十分罕见,至今国内仅见报道两例.我科收治1例,较为典型.报告如下.1 病例摘要患者男性,16岁.因甲状腺肿大、消瘦     

家族多发性内分泌腺瘤疾病的护理

目的探讨多发性内分泌腺瘤病的护理。方法对我院于2010年10-12月期间收治1例男性MENⅡa型家族多发性内分泌腺瘤病患者,实施一般护理,症状护理及心理护理。结果术后患者恢复正常,很快痊愈并出院。结论在术前同时采取三种护理方法,对患者术后恢复效果明显。     

多发性内分泌腺瘤病诊疗水平的探讨

目的 提高对多发性内分泌腺瘤病的认识及诊疗水平。方法 对我国近15年来文献报道的76例多发性内分泌腺瘤病的临床特征进行总结及对我院发现的1例病例进行总结分析。结果 多发性内分泌腺瘤病临床表现呈多样性、复杂性,病例报道均集中在各大城市设备条件较好的医院,全国县级以下医院未见报道。结论①本病尚不被广大医务人员所认识;②诊断本病要求有一定的设备和条件;③对不具备条件的医院,要提高对本病认识,对疑似病例,可送血标本或病人到有条件的医院以便确诊。     

恶性甲状腺结节临床评估新进展

恶性甲状腺结节的传统危险因素包括：结节质地坚硬、固定、生长迅速、颈部淋巴结肿大、声嘶、吞咽困难、男性、年龄〈20岁或〉70岁、头颈部放射线暴露、甲状腺髓样癌或多发性内分泌腺瘤病2型（MEN2）家族史;超声特征包括：低回声、微小钙化、边界不清、结节内血流紊乱、前后径大于横径等。     

RET基因C634Y突变致多发性内分泌腺瘤病2A型一例报道并文献复习

多发性内分泌腺瘤病2A型（MEN2A）是多发性内分泌腺瘤病2型（MEN2）的一种,临床通常表现为甲状腺髓样癌（MTC）、嗜铬细胞瘤（PHEO）及甲状旁腺功能亢进。研究表明MEN2A由10号染色体RET基因突变导致。本文报道了一例由RET基因C634Y突变导致的MEN2A患者,并对其家族成员进行了基因检测,绘制系谱图。基因检测结果显示患者同胞及同胞的子女存在C634Y突变。通过本病例诊疗结合文献复习,提示临床当患者出现内分泌腺体肿瘤时,需引起警惕,应对患者其他内分泌腺体进行进一步检查,并进行RET基因检测,以防出现误诊、漏诊,实现早期治疗,提高治疗效果,改善患者预后。MEN2A患者亲属也应进行RET基因检测。     

一个多发性内分泌腺瘤病2型家系的RET 基因检测

目的：对一个多发性内分泌腺瘤病2型（ multiple endocrine neoplasia 2,MEN2）家系进行RET基因检测,明确诊断和分型,指导治疗、预防及改善预后。方法采用聚合酶链反应和直接基因测序的方法,对一个临床诊断MEN2的家系（共3名家系成员）和3例正常对照的RET原癌基因21个外显子进行测序。结果该家系中的2例患者和1例无症状一级亲属均为RET原癌基因外显子11第634号密码子位点的杂合错义突变TGC→CGC,半胱氨酸→精氨酸（ C634R）。结论通过RET基因检测明确该家系为多发性内分泌腺瘤病2A型,对家系中患者的治疗和随访起到了指导作用,并筛查出家系中无症状的基因突变携带者。     

嗜铬细胞瘤和副神经节细胞瘤分子生物学研究进展

嗜铬细胞瘤和副神经节细胞瘤中大约有10%属于遗传性疾病.遗传性嗜铬细胞瘤主要为:多发性内分泌腺瘤病2型(MEN 2)、von Hippel-Lindau病(VHL)、纤维神经瘤病Ⅰ型(NFⅠ)、遗传性副神经节瘤以及遗传性嗜铬细胞瘤.迄今为止,已了解的与嗜铬细胞瘤有关的基因为RET基因、VHL基因和SDHx基因.本文对上述基因以及散发的嗜铬细胞瘤分子生物学研究做一综述.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia （MEN） is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism （PHPT）, 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918.48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple foci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.     

Diagnosis and surgical treatment of multiple endocrine neoplasia

Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.