BACKGROUND Multiple endocrine neoplasia type 1(MEN1)is a rare hereditary disorder caused by mutations of the MEN1 gene.It is characterized by hyperparathyroidism and involves the pancreas,anterior pituitary,duodenum,a...BACKGROUND Multiple endocrine neoplasia type 1(MEN1)is a rare hereditary disorder caused by mutations of the MEN1 gene.It is characterized by hyperparathyroidism and involves the pancreas,anterior pituitary,duodenum,and adrenal gland.Here,we report a 40-year-old male patient with MEN1 who first manifested as thymic carcinoid,then primary hyperparathyroidism and prolactinoma,and a decade later pancreatic neuroendocrine tumor.CASE SUMMARY The patient underwent a thymectomy because of the thymic carcinoid 10 years prior and a prolactinoma resection 2 years prior.His sister suffered from prolactinoma.His parents displayed a typical triad of amenorrhea,galactorrhea,and infertility.Computed tomography revealed a strong signal in the upper portion of the left lobes and posterior portion of the right lobes of the thyroid and irregular soft tissue densities of the pancreatic body.Positron emission tomography/computed tomography imaging further showed strong 18Fflurodeoxyglucose uptake in the tail of the pancreatic body and segment IV of the liver.The patient underwent pancreatic body tail resection,pancreatic head mass enucleation,and ultrasound-guided radio-frequency ablation for liver cancer.Pathology results reported neuroendocrine tumor grade 2.Whole exome sequencing revealed a verified pathogenic mutation c.378G>A(p.Trp126*)in the MEN1 gene.The diagnosis of MEN1 was confirmed.At the 1.5-year follow-up,the patient appeared healthy without any sign of reoccurrence.CONCLUSION The present case may add some insight into the diagnosis and treatment of patients with MEN1.展开更多
BACKGROUND Multiple endocrine neoplasia type 1(MEN1)is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presents mostly as parathyroid,endocrine pancreas(such as gastrinoma)and anterior p...BACKGROUND Multiple endocrine neoplasia type 1(MEN1)is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presents mostly as parathyroid,endocrine pancreas(such as gastrinoma)and anterior pituitary tumors.At present,papillary thyroid carcinoma(PTC)and nodular goiter are not regarded as components of MEN1.CASE SUMMARY A 35-year-old woman presented with MEN1 accompanied by coinstantaneous PTC and nodular goiter.The pathological diagnosis was PTC with cervical lymph node metastasis,nodular goiter,parathyroid cyst and adenomatoid hyperplasia.Genetic testing was performed and a MEN1 gene mutation was detected.The patient underwent unilateral lobectomy of the thyroid gland and surgical removal of the parathyroid tumors.At 18 mo of follow-up,ultrasonic examination of the neck showed no abnormality.Serum calcium and parathyroid hormone levels were normal.No new MEN1-associated tumors were detected.CONCLUSION The role of inactivating mutations of MEN1 gene in tumorigenesis of PTC and/or nodular goiter remains to be determined by more case reports and further research.展开更多
AIM:To describe our patients affected with ectopic biliary tree gastrinoma and review the literature on this topic.METHODS:Between January 1992 and June 2012,28 patients affected by duodenopancreatic endocrine tumors ...AIM:To describe our patients affected with ectopic biliary tree gastrinoma and review the literature on this topic.METHODS:Between January 1992 and June 2012,28 patients affected by duodenopancreatic endocrine tumors in multiple endocrine neoplasia type 1(MEN1)syndrome underwent surgery at our institution.This retrospective review article analyzes our experience regarding seventeen of these patients subjected to duodenopancreatic surgery for Zollinger-Ellison syndrome(ZES).Surgical treatment consisted of duodenopancreatectomy(DP)or total pancreatectomy(TP).Regional lymphadenectomy was always performed.Any hepatic tumoral lesions found were removed during surgery.In MEN1 patients,removal of duodenal lesions can sometimes lead to persistence or recurrence of hypergastrinemia.One possible explanation for this unfavorable outcome could be unrecognized ectopic localization of gastrin-secreting tumors.This study described three cases among the seventeen patients who were found to have an ectopic gastrinoma located in the biliary tree.RESULTS:Seventeen MEN1 patients affected with ZES were analyzed.The mean age was 40 years.Fifteen patients underwent DP and two TP.On histopathological examination,duodeno pancreatic endocrine tumors were found in all 17 patients.Eighty-one gastrinomas were detected in the first three portions of the duodenum.Only one gastrinoma was found in the pancreas.The mean number of gastrinomas per patient was 5(range 1-16).Malignancy was established in 12 patients(70.5%)after lymph node,liver and omental metastases were found.Three patients exhibited biliary tree gastrinomas as well as duodenal gastrinoma(s).In two cases,the ectopic gastrinoma was removed at the same time as pancreatic surgery,while in the third case,the biliary tree gastrinoma was resected one year after DP because of recurrence of ZES.CONCLUSION:These findings suggest the importance of checking for the presence of ectopic gastrinomas in the biliary tree in MEN1 patients undergoing ZES surgery.展开更多
Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the onco...Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the oncosuppressor gene MEN1, in 1997, genetic testing has revealed an important approach for the early and differential diagnosis of the disease. The finding of a MEN1 mutation in a patient has important clinical implications for relatives since it allows very early disease diagnosis and identification of carriers, even before biochemical and/or clinical manifestation, permitting their inclusion in a specific program of surveillance and subsequent praecox therapy. Currently, genetic testing for MEN1 consists principally of the sequencing of coding regions and intron-exon junctions of the MEN1 gene. However, the recent acquisition of novel high throughput technologies will allow the design of innovative, accurate, complete and rapid genetic diagnosis. These new tools are able to increase the strength of the analysis and almost completely eliminate the possibility of false negative results. This review aims to give an overview on genetic testing of MEN1 syndrome, reporting the positive aspects of performing the analysis and the future perspectives for improving the performance of the test, as well as its application in clinical practice.展开更多
AIM: To search for the optimal surgery for gastrinoma and duodenopancreatic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1. METHODS: Sixteen patients with genetically confirmed multiple end...AIM: To search for the optimal surgery for gastrinoma and duodenopancreatic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1. METHODS: Sixteen patients with genetically confirmed multiple endocrine neoplasia type 1 (MEN 1) and Zollinger-Ellison syndrome (ZES) underwent resection of both gastrinomas and duodenopancreatic neuroendocrine tumors (NETs) between 1991 and 2009. For localization of gastrinoma, selective arterial secretagogue injection test (SASI test) with secretin or calcium solution was performed as well as somatostatin receptor scintigraphy (SRS) and other imaging methods such as computed tomography (CT) or magnetic resonance imaging (MRI). The modus of surgery for gastrinoma has been changed over time, searching for the optimal surgery: pancreaticoduodenectomy (PD) was first performed guided by localization with the SAST test, then local resection of duodenal gastrinomas with dissection of regional lymph nodes (LR), and recently pancreas-preserving total duodenectomy (PPTD) has been performed for multiple duodenal gastrinomas. RESULTS: Among various types of preoperative localizing methods for gastrinoma, the SASI test was the most useful method. Imaging methods such as SRS or CT made it essentially impossible to differentiate functioning gastrinoma among various kinds of NETs. However, recent imaging methods including SRS or CT were useful for detecting both distant metastases and ectopic NETs; therefore they are indispensable for staging of NETs. Biochemical cure of gastrinoma was achieved in 14 of 16 patients (87.5%); that is, 100% in 3 patients who underwent PD, 100% in 6 patients who underwent LR (although in 2 patients (33.3%) second LR was performed for recurrence of duodenal gastrinoma), and 71.4% in 7 patients who underwent PPTD. Pancreatic NETs more than 1 cm in diameter were resected either by distal pancreatectomy or enucleations, and no hepatic metastases have developed postoperatively. Pathological study of the resected specimens revealed co-existence of pancreatic gastrinoma with duodenal gastrinoma in 2 of 16 patients (13%), and G cell hyperplasia and/or microgastrinoma in the duodenal Brunner's gland was revealed in all of 7 duodenal specimens after PPTD. CONCLUSION: Aggressive resection surgery based on accurate localization with the SASI test was useful for biochemical cure of gastrinoma in patients with MEN 1.展开更多
Objective To explore tissue expression of cyclin-dependent kinase inhibitor p27Kip1 andβ-catenin in multiple endocrine neoplasia type1（MEN1）-related parathyroid tumors（MHPT）.Methods Immunohistochemistry was perfo...Objective To explore tissue expression of cyclin-dependent kinase inhibitor p27Kip1 andβ-catenin in multiple endocrine neoplasia type1（MEN1）-related parathyroid tumors（MHPT）.Methods Immunohistochemistry was performed to analyze the expression of p27Kip1 andβ-catenin in parathyroid glands from 31 subjects展开更多
Multiple endocrine neoplasia type 2A(MEN2A)is an autosomal dominant cancer syndrome that is characterized by medullary thyroid carcinoma(MTC),pheochromocytoma(50%-60% of cases),and hyperplasia of the parathyroid gland...Multiple endocrine neoplasia type 2A(MEN2A)is an autosomal dominant cancer syndrome that is characterized by medullary thyroid carcinoma(MTC),pheochromocytoma(50%-60% of cases),and hyperplasia of the parathyroid glands(20%-30% of cases).MEN2A comprises a heterogeneous group of neoplastic disorders that most commonly have a single missense substitution of the Ret proto-oncogene(RET)involving exons 10 and 11.Here,we reported a novel case of MEN2A associated with two variations in two distinct genes,Cys634Gly in RET and a rare Ser73Gly substitution in succinate dehydrogenase,subunit D(SDHD).Because the patient presented with medullary thyroid carcinoma and pheochromocytoma but without parathyroid gland involvement,we speculated that this clinical feature could be correlated with the two substitutions.This is the first report of a MEN2A case involving two different changes one in the RET gene and the other in the SDHD gene.展开更多
Pancreatic neuroendocrine tumors(PNTs) are relatively uncommon although these neoplasms have been noted to grow in occurrence in recent decades.Surgical removal of locally advanced PNTs involving major vessels and adj...Pancreatic neuroendocrine tumors(PNTs) are relatively uncommon although these neoplasms have been noted to grow in occurrence in recent decades.Surgical removal of locally advanced PNTs involving major vessels and adjacent organs is warranted by reason of an appreciably more favorable prognosis as compared to exocrine pancreas cancer.We are reporting a case of successful multi-organ resection combined with a wide excision of the superior mesenteric,common,proper,left and right hepatic arteries(in the presence of the hepatomesenteric trunk variant of aberrant arterial anatomy) for multifocal PNTs in the setting of multiple neuroendocrine neoplasia type 1 syndrome.The procedure resulted in pain abolition,a significant improvement in the patient's life quality and allowed her to return to work.Follow-up computed tomography at 15 mo post-surgery showed no evidence of disease recurrence.展开更多
对1例多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)合并低血糖昏迷的患者进行临床回顾性分析。患者,女性,43岁,以反复低血糖为主要症状就诊,辅助检查提示胰岛细胞瘤、垂体瘤、甲状旁腺功能亢进、肾上腺结节,临床...对1例多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)合并低血糖昏迷的患者进行临床回顾性分析。患者,女性,43岁,以反复低血糖为主要症状就诊,辅助检查提示胰岛细胞瘤、垂体瘤、甲状旁腺功能亢进、肾上腺结节,临床诊断为MEN1。展开更多
多发性内分泌腺肿瘤1型(multiple endocrine neoplasia type 1,MEN1)是一种常染色体显性遗传的内分泌肿瘤综合征。中南大学湘雅二医院代谢内分泌科2019年1月收治1例以低血糖起病患者,临床诊断为MEN1,基因有新发框移变异(c.640-643delCAG...多发性内分泌腺肿瘤1型(multiple endocrine neoplasia type 1,MEN1)是一种常染色体显性遗传的内分泌肿瘤综合征。中南大学湘雅二医院代谢内分泌科2019年1月收治1例以低血糖起病患者,临床诊断为MEN1,基因有新发框移变异(c.640-643delCAGA),该变异发生后氨基酸变短(p.v215Mfs*13),符合致病性变异。经多学科会诊,采用同时切除胰体、胰尾胰岛素瘤以及甲状旁腺切除(4个)+自体异位移植,术后患者恢复良好。个体化诊断治疗对改善MEN1型患者预后有确切意义。展开更多
Recent advances in localization techniques,such as the selective arterial secretagogue injection test(SASI test) and somatostatin receptor scintigraphy have promoted curative resection surgery for patients with pancre...Recent advances in localization techniques,such as the selective arterial secretagogue injection test(SASI test) and somatostatin receptor scintigraphy have promoted curative resection surgery for patients with pancreatic neuroendocrine tumors(PNET).For patients with sporadic functioning PNET,curative resection surgery has been established by localization with the SASI test using secretin or calcium.For curative resection of functioning PNET associated with multiple endocrine neoplasia type 1(MEN 1) which are usually multiple and sometimes numerous,resection surgery of the pancreas and/or the duodenum has to be performed based on localization by the SASI test.As resection surgery of PNET has increased,several important pathological features of PNET have been revealed.For example,in patients with Zollinger-Ellison syndrome(ZES),duodenal gastrinoma has been detected more frequently than pancreatic gastrinoma,and in patients with MEN 1 and ZES,gastrinomas have been located mostly in the duodenum,and pancreatic gastrinoma has been found to co-exist in 13% of patients.Nonfunctioning PNET in patients with MEN 1 becomes metastatic to the liver when it is more than 1 cm in diameter and should be resected after careful observation.The most important prognos-tic factor in patients with PNET is the development of hepatic metastases.The treatment strategy for hepatic metastases of PNET has not been established and aggressive resection with chemotherapy and trans-arterial chemoembolization have been performed with significant benefit.The usefulness of octreotide treatment and other molecular targeting agents are currently being assessed.展开更多
多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)为一种常染色体显性遗传的内分泌肿瘤综合征。常见临床表现为甲状旁腺功能亢进、胃肠胰神经内分泌肿瘤及垂体前叶肿瘤,同时大部分患者存在MEN1基因突变。近年来随着基...多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)为一种常染色体显性遗传的内分泌肿瘤综合征。常见临床表现为甲状旁腺功能亢进、胃肠胰神经内分泌肿瘤及垂体前叶肿瘤,同时大部分患者存在MEN1基因突变。近年来随着基因检测的普及,MEN1基因检测在MEN1的诊断中起到重要作用。然而临床上逐渐发现临床症状典型、MEN1基因阴性的患者,这为该病的诊断带来了挑战。本文总结1例临床表现为甲状旁腺功能亢进、胰腺神经内分泌肿瘤、垂体无功能微腺瘤、未发现MEN1基因突变患者的临床资料、治疗及随访情况,综合分析临床资料和基因检测对MEN1诊断和早期治疗的重要意义。展开更多
文摘BACKGROUND Multiple endocrine neoplasia type 1(MEN1)is a rare hereditary disorder caused by mutations of the MEN1 gene.It is characterized by hyperparathyroidism and involves the pancreas,anterior pituitary,duodenum,and adrenal gland.Here,we report a 40-year-old male patient with MEN1 who first manifested as thymic carcinoid,then primary hyperparathyroidism and prolactinoma,and a decade later pancreatic neuroendocrine tumor.CASE SUMMARY The patient underwent a thymectomy because of the thymic carcinoid 10 years prior and a prolactinoma resection 2 years prior.His sister suffered from prolactinoma.His parents displayed a typical triad of amenorrhea,galactorrhea,and infertility.Computed tomography revealed a strong signal in the upper portion of the left lobes and posterior portion of the right lobes of the thyroid and irregular soft tissue densities of the pancreatic body.Positron emission tomography/computed tomography imaging further showed strong 18Fflurodeoxyglucose uptake in the tail of the pancreatic body and segment IV of the liver.The patient underwent pancreatic body tail resection,pancreatic head mass enucleation,and ultrasound-guided radio-frequency ablation for liver cancer.Pathology results reported neuroendocrine tumor grade 2.Whole exome sequencing revealed a verified pathogenic mutation c.378G>A(p.Trp126*)in the MEN1 gene.The diagnosis of MEN1 was confirmed.At the 1.5-year follow-up,the patient appeared healthy without any sign of reoccurrence.CONCLUSION The present case may add some insight into the diagnosis and treatment of patients with MEN1.
文摘BACKGROUND Multiple endocrine neoplasia type 1(MEN1)is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presents mostly as parathyroid,endocrine pancreas(such as gastrinoma)and anterior pituitary tumors.At present,papillary thyroid carcinoma(PTC)and nodular goiter are not regarded as components of MEN1.CASE SUMMARY A 35-year-old woman presented with MEN1 accompanied by coinstantaneous PTC and nodular goiter.The pathological diagnosis was PTC with cervical lymph node metastasis,nodular goiter,parathyroid cyst and adenomatoid hyperplasia.Genetic testing was performed and a MEN1 gene mutation was detected.The patient underwent unilateral lobectomy of the thyroid gland and surgical removal of the parathyroid tumors.At 18 mo of follow-up,ultrasonic examination of the neck showed no abnormality.Serum calcium and parathyroid hormone levels were normal.No new MEN1-associated tumors were detected.CONCLUSION The role of inactivating mutations of MEN1 gene in tumorigenesis of PTC and/or nodular goiter remains to be determined by more case reports and further research.
文摘AIM:To describe our patients affected with ectopic biliary tree gastrinoma and review the literature on this topic.METHODS:Between January 1992 and June 2012,28 patients affected by duodenopancreatic endocrine tumors in multiple endocrine neoplasia type 1(MEN1)syndrome underwent surgery at our institution.This retrospective review article analyzes our experience regarding seventeen of these patients subjected to duodenopancreatic surgery for Zollinger-Ellison syndrome(ZES).Surgical treatment consisted of duodenopancreatectomy(DP)or total pancreatectomy(TP).Regional lymphadenectomy was always performed.Any hepatic tumoral lesions found were removed during surgery.In MEN1 patients,removal of duodenal lesions can sometimes lead to persistence or recurrence of hypergastrinemia.One possible explanation for this unfavorable outcome could be unrecognized ectopic localization of gastrin-secreting tumors.This study described three cases among the seventeen patients who were found to have an ectopic gastrinoma located in the biliary tree.RESULTS:Seventeen MEN1 patients affected with ZES were analyzed.The mean age was 40 years.Fifteen patients underwent DP and two TP.On histopathological examination,duodeno pancreatic endocrine tumors were found in all 17 patients.Eighty-one gastrinomas were detected in the first three portions of the duodenum.Only one gastrinoma was found in the pancreas.The mean number of gastrinomas per patient was 5(range 1-16).Malignancy was established in 12 patients(70.5%)after lymph node,liver and omental metastases were found.Three patients exhibited biliary tree gastrinomas as well as duodenal gastrinoma(s).In two cases,the ectopic gastrinoma was removed at the same time as pancreatic surgery,while in the third case,the biliary tree gastrinoma was resected one year after DP because of recurrence of ZES.CONCLUSION:These findings suggest the importance of checking for the presence of ectopic gastrinomas in the biliary tree in MEN1 patients undergoing ZES surgery.
文摘Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours. Since the identification of the causative gene, the oncosuppressor gene MEN1, in 1997, genetic testing has revealed an important approach for the early and differential diagnosis of the disease. The finding of a MEN1 mutation in a patient has important clinical implications for relatives since it allows very early disease diagnosis and identification of carriers, even before biochemical and/or clinical manifestation, permitting their inclusion in a specific program of surveillance and subsequent praecox therapy. Currently, genetic testing for MEN1 consists principally of the sequencing of coding regions and intron-exon junctions of the MEN1 gene. However, the recent acquisition of novel high throughput technologies will allow the design of innovative, accurate, complete and rapid genetic diagnosis. These new tools are able to increase the strength of the analysis and almost completely eliminate the possibility of false negative results. This review aims to give an overview on genetic testing of MEN1 syndrome, reporting the positive aspects of performing the analysis and the future perspectives for improving the performance of the test, as well as its application in clinical practice.
基金Supported by a Health and Labor Sciences Research Grant from the Ministry of Health, Labor and Welfare, Government of Japan (Grant No. H21-Nanchi-Ippan-037)
文摘AIM: To search for the optimal surgery for gastrinoma and duodenopancreatic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1. METHODS: Sixteen patients with genetically confirmed multiple endocrine neoplasia type 1 (MEN 1) and Zollinger-Ellison syndrome (ZES) underwent resection of both gastrinomas and duodenopancreatic neuroendocrine tumors (NETs) between 1991 and 2009. For localization of gastrinoma, selective arterial secretagogue injection test (SASI test) with secretin or calcium solution was performed as well as somatostatin receptor scintigraphy (SRS) and other imaging methods such as computed tomography (CT) or magnetic resonance imaging (MRI). The modus of surgery for gastrinoma has been changed over time, searching for the optimal surgery: pancreaticoduodenectomy (PD) was first performed guided by localization with the SAST test, then local resection of duodenal gastrinomas with dissection of regional lymph nodes (LR), and recently pancreas-preserving total duodenectomy (PPTD) has been performed for multiple duodenal gastrinomas. RESULTS: Among various types of preoperative localizing methods for gastrinoma, the SASI test was the most useful method. Imaging methods such as SRS or CT made it essentially impossible to differentiate functioning gastrinoma among various kinds of NETs. However, recent imaging methods including SRS or CT were useful for detecting both distant metastases and ectopic NETs; therefore they are indispensable for staging of NETs. Biochemical cure of gastrinoma was achieved in 14 of 16 patients (87.5%); that is, 100% in 3 patients who underwent PD, 100% in 6 patients who underwent LR (although in 2 patients (33.3%) second LR was performed for recurrence of duodenal gastrinoma), and 71.4% in 7 patients who underwent PPTD. Pancreatic NETs more than 1 cm in diameter were resected either by distal pancreatectomy or enucleations, and no hepatic metastases have developed postoperatively. Pathological study of the resected specimens revealed co-existence of pancreatic gastrinoma with duodenal gastrinoma in 2 of 16 patients (13%), and G cell hyperplasia and/or microgastrinoma in the duodenal Brunner's gland was revealed in all of 7 duodenal specimens after PPTD. CONCLUSION: Aggressive resection surgery based on accurate localization with the SASI test was useful for biochemical cure of gastrinoma in patients with MEN 1.
文摘Objective To explore tissue expression of cyclin-dependent kinase inhibitor p27Kip1 andβ-catenin in multiple endocrine neoplasia type1（MEN1）-related parathyroid tumors（MHPT）.Methods Immunohistochemistry was performed to analyze the expression of p27Kip1 andβ-catenin in parathyroid glands from 31 subjects
基金Supported by National Nature Science Foundation of China(30771018)Shanghai Rising-Star Program,China(08QA14057)
文摘Multiple endocrine neoplasia type 2A(MEN2A)is an autosomal dominant cancer syndrome that is characterized by medullary thyroid carcinoma(MTC),pheochromocytoma(50%-60% of cases),and hyperplasia of the parathyroid glands(20%-30% of cases).MEN2A comprises a heterogeneous group of neoplastic disorders that most commonly have a single missense substitution of the Ret proto-oncogene(RET)involving exons 10 and 11.Here,we reported a novel case of MEN2A associated with two variations in two distinct genes,Cys634Gly in RET and a rare Ser73Gly substitution in succinate dehydrogenase,subunit D(SDHD).Because the patient presented with medullary thyroid carcinoma and pheochromocytoma but without parathyroid gland involvement,we speculated that this clinical feature could be correlated with the two substitutions.This is the first report of a MEN2A case involving two different changes one in the RET gene and the other in the SDHD gene.
文摘Pancreatic neuroendocrine tumors(PNTs) are relatively uncommon although these neoplasms have been noted to grow in occurrence in recent decades.Surgical removal of locally advanced PNTs involving major vessels and adjacent organs is warranted by reason of an appreciably more favorable prognosis as compared to exocrine pancreas cancer.We are reporting a case of successful multi-organ resection combined with a wide excision of the superior mesenteric,common,proper,left and right hepatic arteries(in the presence of the hepatomesenteric trunk variant of aberrant arterial anatomy) for multifocal PNTs in the setting of multiple neuroendocrine neoplasia type 1 syndrome.The procedure resulted in pain abolition,a significant improvement in the patient's life quality and allowed her to return to work.Follow-up computed tomography at 15 mo post-surgery showed no evidence of disease recurrence.
文摘多发性内分泌腺肿瘤1型(multiple endocrine neoplasia type 1,MEN1)是一种常染色体显性遗传的内分泌肿瘤综合征。中南大学湘雅二医院代谢内分泌科2019年1月收治1例以低血糖起病患者,临床诊断为MEN1,基因有新发框移变异(c.640-643delCAGA),该变异发生后氨基酸变短(p.v215Mfs*13),符合致病性变异。经多学科会诊,采用同时切除胰体、胰尾胰岛素瘤以及甲状旁腺切除(4个)+自体异位移植,术后患者恢复良好。个体化诊断治疗对改善MEN1型患者预后有确切意义。
文摘Recent advances in localization techniques,such as the selective arterial secretagogue injection test(SASI test) and somatostatin receptor scintigraphy have promoted curative resection surgery for patients with pancreatic neuroendocrine tumors(PNET).For patients with sporadic functioning PNET,curative resection surgery has been established by localization with the SASI test using secretin or calcium.For curative resection of functioning PNET associated with multiple endocrine neoplasia type 1(MEN 1) which are usually multiple and sometimes numerous,resection surgery of the pancreas and/or the duodenum has to be performed based on localization by the SASI test.As resection surgery of PNET has increased,several important pathological features of PNET have been revealed.For example,in patients with Zollinger-Ellison syndrome(ZES),duodenal gastrinoma has been detected more frequently than pancreatic gastrinoma,and in patients with MEN 1 and ZES,gastrinomas have been located mostly in the duodenum,and pancreatic gastrinoma has been found to co-exist in 13% of patients.Nonfunctioning PNET in patients with MEN 1 becomes metastatic to the liver when it is more than 1 cm in diameter and should be resected after careful observation.The most important prognos-tic factor in patients with PNET is the development of hepatic metastases.The treatment strategy for hepatic metastases of PNET has not been established and aggressive resection with chemotherapy and trans-arterial chemoembolization have been performed with significant benefit.The usefulness of octreotide treatment and other molecular targeting agents are currently being assessed.
文摘多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)为一种常染色体显性遗传的内分泌肿瘤综合征。常见临床表现为甲状旁腺功能亢进、胃肠胰神经内分泌肿瘤及垂体前叶肿瘤,同时大部分患者存在MEN1基因突变。近年来随着基因检测的普及,MEN1基因检测在MEN1的诊断中起到重要作用。然而临床上逐渐发现临床症状典型、MEN1基因阴性的患者,这为该病的诊断带来了挑战。本文总结1例临床表现为甲状旁腺功能亢进、胰腺神经内分泌肿瘤、垂体无功能微腺瘤、未发现MEN1基因突变患者的临床资料、治疗及随访情况,综合分析临床资料和基因检测对MEN1诊断和早期治疗的重要意义。
