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Multiple Endocrine Neoplasia Type 1

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1961. Pancreatectomy in multiple endocrine neoplasia type 1-related gastrinomas and pancreatic endocrine neoplasias. (Full text)

Pancreatectomy in multiple endocrine neoplasia type 1-related gastrinomas and pancreatic endocrine neoplasias. The aim of this study was to evaluate the results of pancreatic resection in pancreatic endocrine neoplasias (PENs) in patients affected by multiple endocrine neoplasia type 1 (MEN1) syndrome.Since these tumors often show an indolent course, the role of diagnostic procedures and type of surgical approach are controversial. Experience with new diagnostic approaches and more aggressive (...) surgery is still limited.Sixteen MEN1 patients were referred to our Surgical Unit (1992-2003) and were operated on for the indications of hypergastrinism, hypoglycemia, and/or pancreatic endocrine neoplasias larger than 1 cm. Zollinger-Ellison syndrome (ZES) was present in 13 patients, 2 of whom experienced a recurrence after previous surgery. Preoperative tumor localization was carried out using ultrasonography (US), computed tomography (CT), endoscopic ultrasonography (EUS), somatostatin receptor

2006 Annals of Surgery

1962. Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis (Full text)

Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis Multiple endocrine neoplasia type 2 (MEN 2) is an inherited cancer syndrome characterised by medullary thyroid carcinoma (MTC), with or without phaeochromocytoma and hyperparathyroidism. MEN 2 is unusual among cancer syndromes as it is caused by activation of a cellular oncogene, RET. Germline mutations in the gene encoding the RET receptor tyrosine kinase are found in the vast majority of MEN 2 patients and somatic

2000 Journal of Medical Genetics

1963. Proliferation of endothelial component of parathyroid gland in multiple endocrine neoplasia type 1. Potential relationship with a mitogenic factor. (Full text)

Proliferation of endothelial component of parathyroid gland in multiple endocrine neoplasia type 1. Potential relationship with a mitogenic factor. The basic fibroblast growth factor-like mitogen detected in the plasma of patients with the multiple endocrine neoplasia type 1 (MEN-1) syndrome was found to have a specific mitogenic effect on parathyroid endothelial cells in vitro. To investigate its pathogenic role in humans, the endothelial component of parathyroid glands was evaluated (...) by ultrastructural morphometry in six MEN-1 patients. The results were compared with those found in six patients with uremic hyperparathyroidism (UHPT) and in three subjects with histologically normal glands. Plasma mitogenic activity was found in all MEN-1 patients but not in those with UHPT or in normal subjects. All morphometric parameters investigated (fractional volume and nuclear density of capillary endothelial cells, volume fraction and number per unit area of capillaries) showed 1.5- to 2-fold higher

1993 The American journal of pathology

1964. Oral calcium tolerance test in the early diagnosis of primary hyperparathyroidism and multiple endocrine neoplasia type 1 in patients with the Zollinger-Ellison syndrome. Groupe de Recherche et d'Etude du Syndrome de Zollinger-Ellison. (Full text)

Oral calcium tolerance test in the early diagnosis of primary hyperparathyroidism and multiple endocrine neoplasia type 1 in patients with the Zollinger-Ellison syndrome. Groupe de Recherche et d'Etude du Syndrome de Zollinger-Ellison. In patients with the Zollinger-Ellison syndrome, the exclusion of multiple endocrine neoplasia type 1 is of important clinical relevance. Its diagnosis often relies on the existence of primary hyperparathyroidism.To investigate the parathyroid function (...) of patients with the Zollinger-Ellison syndrome by use of an oral calcium tolerance test to identify both hypercalcaemic and normocalcaemic primary hyperparathyroidism, and, accordingly, multiple endocrine neoplasia type 1.Among 51 consecutive patients with the Zollinger-Ellison syndrome referred to us between 1988 and 1994, 28 had not been investigated for parathyroid function and were prospectively studied.The investigation of calcium metabolism was abnormal in nine patients. One displayed

1996 Gut

1965. Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1. (Full text)

Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1. 7912288 1994 07 27 2018 11 13 0022-2593 31 3 1994 Mar Journal of medical genetics J. Med. Genet. Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1. 261-2 Teh B T BT Hayward N K NK Walters M K MK Shepherd J J JJ Wilkinson S S Nordenskjold M M Larsson C C eng Letter Research Support, Non-U.S. Gov't England J Med Genet 2985087R 0022-2593 IM Adolescent Adult Carcinoid Tumor genetics Child (...) Chromosomes, Human, Pair 11 Female Genetic Linkage Humans Male Multiple Endocrine Neoplasia genetics Pedigree Tasmania Thymus Neoplasms genetics 1994 3 1 1994 3 1 0 1 1994 3 1 0 0 ppublish 7912288 PMC1049765 Medicine (Baltimore). 1986 Jul;65(4):226-41 2873498 Am J Med. 1980 Dec;69(6):874-80 6108714 J Clin Invest. 1992 Apr;89(4):1344-9 1348254 Hum Genet. 1992 May;89(2):187-93 1350263 Hum Genet. 1992 Jun;89(4):445-9 1352275 Arch Surg. 1993 Jun;128(6):683-90 8099273 Am J Med. 1963 Aug;35:205-12 14057623 N

1994 Journal of Medical Genetics

1966. Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. (Full text)

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome predisposing to tumors of the parathyroid, endocrine pancreas, anterior pituitary, adrenal glands, and diffuse neuroendocrine tissues. The MEN1 gene has been assigned, by linkage analysis and loss of heterozygosity, to chromosome 11q13 and recently has been identified by positional cloning. In this study, a total (...) of 84 families and/or isolated patients with either MEN1 or MEN1-related inherited endocrine tumors were screened for MEN1 germ-line mutations, by heteroduplex and sequence analysis of the MEN1 gene-coding region and untranslated exon 1. Germ-line MEN1 alterations were identified in 47/54 (87%) MEN1 families, in 9/11 (82%) isolated MEN1 patients, and in only 6/19 (31.5%) atypical MEN1-related inherited cases. We characterized 52 distinct mutations in a total of 62 MEN1 germ-line alterations. Thirty

1998 American Journal of Human Genetics

1967. Thymic carcinoids in multiple endocrine neoplasia type 1. (Full text)

Thymic carcinoids in multiple endocrine neoplasia type 1. To study the clinical, pathologic, and genetic features of thymic carcinoids in the setting of multiple endocrine neoplasia type 1 (MEN1) and to study means for detection and prevention of this tumor in patients with MEN1.Thymic carcinoid is a rare malignancy, with approximately 150 cases reported to date. It may be associated with MEN1 and carries a poor prognosis, with no effective treatment. Its underlying etiology is unknown.Ten

1998 Annals of Surgery

1968. Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. (Full text)

Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroid glands, the anterior pituitary, and endocrine pancreas. The MEN1 gene has recently been cloned and germline mutations have been identified in MEN1 patients in the United States, Canada, and Europe. We examined MEN1 gene mutations in MEN1 and MEN1

1998 Journal of Medical Genetics

1969. Characterization of mutations in patients with multiple endocrine neoplasia type 1. (Full text)

Characterization of mutations in patients with multiple endocrine neoplasia type 1. Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors of the parathyroids, pancreatic islets, and anterior pituitary. The MEN1 gene, on chromosome 11q13, has recently been cloned, and mutations have been identified. We have characterized such MEN1 mutations, assessed the reliability of SSCP analysis for the detection of these mutations, and estimated the age-related (...) penetrance for MEN1. Sixty-three unrelated MEN1 kindreds (195 affected and 396 unaffected members) were investigated for mutations in the 2,790-bp coding region and splice sites, by SSCP and DNA sequence analysis. We identified 47 mutations (12 nonsense mutations, 21 deletions, 7 insertions, 1 donor splice-site mutation, and 6 missense mutations), that were scattered throughout the coding region, together with six polymorphisms that had heterozygosity frequencies of 2%-44%. More than 10% of the mutations

1998 American Journal of Human Genetics

1970. Duodenopancreatic Resections in Patients With Multiple Endocrine Neoplasia Type 1 (Full text)

Duodenopancreatic Resections in Patients With Multiple Endocrine Neoplasia Type 1 To review the authors' 7-year experience with a surgical approach for pancreatic and duodenal neuroendocrine tumors (NETs) in patients with multiple endocrine neoplasia type 1 (MEN 1) designed to remove all gross tumor with limited complications, preserving pancreatic function.MEN 1 is an autosomal dominant familial neoplasia syndrome characterized by the development of NETs of the duodenum and pancreas. Some (...) tumors are clinically insignificant or follow a benign course, although a subset pursues a malignant, lethal natural history; the risk of surgical management must be appropriate to the disease course.The clinical, biochemical, genetic, and pathologic data were retrospectively reviewed for 21 consecutive MEN 1 patients undergoing pancreatic resection for NETs between 1993 and 1999 at one institution. Age at operation, presenting symptoms, results of preoperative and intraoperative localization studies

2000 Annals of Surgery

1971. Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland (Full text)

Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland 11303512 2001 06 14 2008 11 20 1468-6244 38 3 2001 Mar Journal of medical genetics J. Med. Genet. Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland. 185-9 Kytölä S S Villablanca A A Ebeling T T Nord B B Larsson C C Höög A A Wong F K FK Välimäki M M Vierimaa O O Teh B T BT Salmela P I PI Leisti J J eng Letter Research Support, Non-U.S. Gov't England J Med Genet 2985087R 0022-2593 0 MEN1 protein (...) , human 0 Neoplasm Proteins 0 Proto-Oncogene Proteins 9007-49-2 DNA IM Chromosomes, Human, Pair 11 genetics DNA chemistry genetics DNA Mutational Analysis Family Health Female Finland Founder Effect Genotype Haplotypes Humans Male Microsatellite Repeats Multiple Endocrine Neoplasia Type 1 genetics pathology Mutation Neoplasm Proteins genetics Pedigree Proto-Oncogene Proteins 2001 5 19 10 0 2001 6 23 10 1 2001 5 19 10 0 ppublish 11303512 PMC1734833

2001 Journal of Medical Genetics

1972. Comparison of Surgical Results in Patients With Advanced and Limited Disease With Multiple Endocrine Neoplasia Type 1 and Zollinger-Ellison Syndrome (Full text)

Comparison of Surgical Results in Patients With Advanced and Limited Disease With Multiple Endocrine Neoplasia Type 1 and Zollinger-Ellison Syndrome To determine the role of surgery in patients with Zollinger-Ellison syndrome (ZES) and multiple endocrine neoplasia type 1 (MEN1) with either limited or advanced pancreatic endocrine tumors (PETs).The role of surgery in patients with MEN1 and ZES is controversial. There have been numerous previous studies of surgery in patients with PETs; however (...) ) underwent laparotomy. Tumors were preferably removed by simple enucleation, or if not feasible resection. Patients were reevaluated yearly.Pancreatic endocrine tumors were found in all patients at surgery, with groups 2A and 2B having 1.7 +/- 0.4 and 4.8 +/- 1 PETs, respectively. Further, 35% of the patients in group 2A and 88% of the patients in group 2B had multiple PETs, 53% and 84% had a pancreatic PET, 53% and 68% had a duodenal gastrinoma, 65% and 71% had lymph node metastases, and 0% and 12% had

2001 Annals of Surgery

1973. Localization of the genetic defect in multiple endocrine neoplasia type 1 within a small region of chromosome 11 (Full text)

Localization of the genetic defect in multiple endocrine neoplasia type 1 within a small region of chromosome 11 Multiple endocrine neoplasia type I (MEN-1), a Mendelian disorder with an autosomal dominant mode of inheritance, causes hyperplasia in the parathyroid glands and hyperplasia or neoplasm in the anterior pituitary gland and/or the pancreatic islets. The genetic defect responsible for MEN-1 in three families was recently mapped to the long arm of chromosome II by linkage between (...) the MEN-1 locus and the gene for skeletal muscle glycogen phosphorylase (PYGM) at 11q13. We have constructed a genetic linkage map of seven markers in the vicinity of the MEN-1 locus that has allowed us to map more precisely the gene associated with MEN-1; the target region has been narrowed to about 12 cM. The closely linked markers will be useful also for identification of likely carriers in families in which an allele responsible for MEN-1 segregates.

1989 American Journal of Human Genetics

1974. Predictive testing for multiple endocrine neoplasia type 1 using DNA polymorphisms. (Full text)

Predictive testing for multiple endocrine neoplasia type 1 using DNA polymorphisms. Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited predisposition to neoplastic lesions of the parathyroids, pancreas, and the pituitary. We have previously located the predisposing genetic defect to the long arm of chromosome 11 by genetic linkage. In this study, 124 members of six MEN1 families, including 59 affected individuals, were genotyped for restriction fragment length

1992 Journal of Clinical Investigation

1975. Fine-scale mapping of the gene responsible for multiple endocrine neoplasia type 1 (MEN 1). (Full text)

Fine-scale mapping of the gene responsible for multiple endocrine neoplasia type 1 (MEN 1). We have constructed a high-resolution genetic linkage map in the vicinity of the gene responsible for multiple endocrine neoplasia type 1 (MEN1). The mutation causing this disease, inherited as an autosomal dominant, predisposes carriers to development of neoplastic tumors in the parathyroid, the endocrine pancreas, and the anterior lobe of the pituitary. The 12 markers on the genetic linkage map

1992 American Journal of Human Genetics

1976. A radiation hybrid map of the proximal long arm of human chromosome 11 containing the multiple endocrine neoplasia type 1 (MEN-1) and bcl-1 disease loci. (Full text)

A radiation hybrid map of the proximal long arm of human chromosome 11 containing the multiple endocrine neoplasia type 1 (MEN-1) and bcl-1 disease loci. We describe a high-resolution radiation hybrid map of the proximal long arm of human chromosome 11 containing the bcl-1 and multiple endocrine neoplasia type 1 (MEN-1) disease gene loci. We used X-ray irradiation and cell fusion to generate a panel of 102 hamster-human somatic cell hybrids containing fragments of human chromosome 11. Sixteen (...) human loci in the 11q12-13 region were mapped by statistical analysis of the cosegregation of markers in these radiation hybrids. The most likely order for these loci is C1NH-OSBP-(CD5/CD20)-PGA-FTH1-COX8-PYGM -SEA-KRN1-(MTC/P11EH/HSTF1/INT2)-GST3- PPP1A. Our localization of the human protooncogene SEA between PYGM and INT2, two markers that flank MEN-1, suggests SEA as a potential candidate for the MEN-1 locus. We map two mitogenic fibroblast growth factor genes, HSTF1 and INT2, close to bcl-1

1991 American Journal of Human Genetics

1977. Influence of multiple endocrine neoplasia type 1 on gastric endocrine cells in patients with the Zollinger-Ellison syndrome. (Full text)

Influence of multiple endocrine neoplasia type 1 on gastric endocrine cells in patients with the Zollinger-Ellison syndrome. The influences of multiple endocrine neoplasia type 1 (MEN 1), hypergastrinaemia, age, and sex on gastric endocrine cell densities were studied in 48 patients with the Zollinger-Ellison syndrome of either the sporadic type (n = 31) or associated with MEN 1 (n = 17). The mean fundic argyrophil cell density was higher in women (p < 0.05). It showed no appreciable difference (...) %) or linear (13%) hyperplasia. In patients with MEN 1 diffuse and linear hyperplasia were of the same order (53% and 47%). Furthermore, fundic argyrophil endocrine tumours developed in five of 17-that is, 29.5% of patients with associated MEN 1 while none was seen in patients with sporadic type disease. These tumours showed an exclusive or prominent enterochromaffin like cell population. Antral gastrin and somatostatin cell densities and fasting serum gastrin concentrations were similar in the two groups

1992 Gut

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