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Comprehensive treatment of rare multiple endocrine neoplasia type 1:A case report 被引量:1
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作者 Chen-Hui Ma Huai-Bin Guo +1 位作者 Xin-Yan Pan Wan-Xing Zhang 《World Journal of Clinical Cases》 SCIE 2020年第12期2647-2654,共8页
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
关键词 multiple endocrine neoplasia type 1 Thymic carcinoid NEUROendocrine
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Multiple endocrine neoplasia type 1 combined with thyroid neoplasm:A case report and review of literatures
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作者 Jia-Lu Xu Su Dong +2 位作者 Le-Le Sun Jin-Xin Zhu Jia Liu 《World Journal of Clinical Cases》 SCIE 2022年第3期1032-1040,共9页
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
关键词 multiple endocrine neoplasia type 1 Thyroid cancer Papillary thyroid carcino-ma Nodular goiter Case report
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The expression of p27^(Kip1) and β-catenin in multiple endocrine neoplasia type 1-related parathyroid tumors
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作者 孔晶 《China Medical Abstracts(Internal Medicine)》 2017年第1期25-26,共2页
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
关键词 KIP1 The expression of p27 and catenin in multiple endocrine neoplasia type 1-related parathyroid tumors type
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Molecular alterations and therapeutic targets in pancreatic neuroendocrine tumors
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作者 Yarui Ma Xiaoyue Wang +1 位作者 Hong Zhao Yuchen Jiao 《Journal of Pancreatology》 2023年第3期119-126,共8页
Human pancreatic neuroendocrine tumors(PanNETs)are a rare,deadly tumor type that is sporadic or arises in the background of a hereditary syndrome.A critical genetic event in sporadic tumors is inactivation of the gene... Human pancreatic neuroendocrine tumors(PanNETs)are a rare,deadly tumor type that is sporadic or arises in the background of a hereditary syndrome.A critical genetic event in sporadic tumors is inactivation of the gene menin 1(MEN1)on chromosome 11,and indeed,PanNETs occur in patients with the hereditary syndrome multiple endocrine neoplasia type 1(MEN1)due to germline mutations in the gene.Here,we review the recent progress in the field of molecular genetics and therapeutic targets of PanNETs.The key genomic alterations,including MEN1,ATRX/DAXX,mammalian target of rapamycin(mTOR),DNA damage and repair associated genes,vascular endothelial growth factor receptor(VEGFR)and SSTRs,and epigenetic aberrations in PanNETs are discussed.In addition,the commonly used preclinical models for PanNETs are enumerated. 展开更多
关键词 multiple endocrine neoplasia type 1 Pancreatic neuroendocrine tumors Therapeutic targets
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