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Multiple Endocrine Neoplasia Type 1

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7161. Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. (Abstract)

Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. Multiple endocrine neoplasia type 1 (MEN1) is a familial cancer syndrome characterized by the combined occurrence of tumours of the parathyroid glands, pancreatic islet cells and anterior pituitary gland. Mutation analysis of the MEN1 gene has enabled the genetic diagnosis of patients with MEN1. Two MEN1-related disorders - familial isolated hyperparathyroidism (FIHP

2003 Clinical Genetics

7162. Prospective study of thymic carcinoids in patients with multiple endocrine neoplasia type 1. Full Text available with Trip Pro

Prospective study of thymic carcinoids in patients with multiple endocrine neoplasia type 1. Little is known of the natural history of thymic carcinoids in multiple endocrine neoplasia type 1 (MEN1). This is important because in 1993 they were identified as a frequent cause of death, yet only small retrospective studies and case reports exist. We report results of a prospective study of 85 patients with MEN1 evaluated for pancreatic endocrine tumors and followed over a mean of 8 yr with serial (...) endocrine tumors. Computed tomography and/or MRI were more sensitive than SRS or chest x-ray in detecting tumors initially or with recurrence. All patients underwent resection of the thymic carcinoid, and in all patients followed more than 1 yr, the tumor recurred. Bone metastases developed in two patients and were detected early only on MRI, not SRS. This study provides information on early thymic carcinoids and allows modifications of existing guidelines to be recommended for their diagnosis

2003 Journal of Clinical Endocrinology and Metabolism

7163. Transcription regulation of the multiple endocrine neoplasia type 1 gene in human and mouse. Full Text available with Trip Pro

Transcription regulation of the multiple endocrine neoplasia type 1 gene in human and mouse. Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant tumor syndrome, with the presence of tumors in parathyroid, pancreatic, and anterior pituitary. The tumor suppressor gene MEN1, located on chromosome 11q13, encodes a 610 amino acid, 68-kDa protein, menin. Menin is conserved among species but has no similarity with any known protein. To investigate how the expression is regulated (...) in both man and mouse, we assayed a greater than 1-kb region upstream of the second exon for promoter activity in luciferase reporter vectors. The basic promoter was located closely upstream the most commonly expressed first exon. The region further upstream modified the activity. Repetitive elements of the short interspersed/Alu type covered the entire human upstream regulatory region and were the only apparent motif in common with its murine ortholog. Previous studies have indicated a compensatory

2003 Journal of Clinical Endocrinology and Metabolism

7164. Cystic pancreatic endocrine neoplasms: a distinct tumor type? (Abstract)

50%, p < 0.05). They expressed synaptophysin (100%), chromogranin (82%), and cytokeratin (CK)-19 (24%). Multiple endocrine neoplasia type 1 (MEN-1) was 3.5 times more common in CPENs than in solid tumors (21% versus 6%, p < 0.05). No significant difference was found in location, propensity for metastasis, invasion, or 5-year survival (87% versus 77%, p=0.38).This series, the largest report of CPENs in the literature, shows that CPENs are more common than previously thought, so they should (...) Cystic pancreatic endocrine neoplasms: a distinct tumor type? Cystic pancreatic endocrine neoplasms (CPENs) are considered rare, and their behavior is thought to be similar to that of solid pancreatic endocrine neoplasms (PENs). This study aims to describe the characteristics of CPENs in a large patient cohort.We performed a retrospective review of 170 patients who underwent resections for PENs at Massachusetts General Hospital from 1977 to 2006. Twenty-nine patients (51% men, mean age 53

2008 Journal of the American College of Surgeons

7165. Choroidal metastasis from medullary thyroid carcinoma in multiple endocrine neoplasia. (Abstract)

Choroidal metastasis from medullary thyroid carcinoma in multiple endocrine neoplasia. To report choroidal metastasis from medullary thyroid carcinoma in a patient with multiple endocrine neoplasia (MEN) type 2b.Interventional case report.Medullary thyroid carcinoma developed in a 20-year-old woman and led to the diagnosis of MEN 2b. She had mucosal neuromas on the lips and tongue and prominent corneal nerves in both eyes. Right choroidal metastasis developed when she was 36 years of age.The (...) eye was treated with irradiation, but 9 months later the patient died of widespread metastases.In patients with MEN type 2b, choroidal metastasis can develop from medullary thyroid carcinoma. Although fundus abnormalities typically do not occur with MEN 2b, choroidal metastasis from medullary thyroid carcinoma is a potential fundus finding.

2002 American Journal of Ophthalmology

7166. Thymic neuroendocrine carcinoma (carcinoid) in multiple endocrine neoplasia type 1 syndrome: the Italian series. Full Text available with Trip Pro

Thymic neuroendocrine carcinoma (carcinoid) in multiple endocrine neoplasia type 1 syndrome: the Italian series. Neuroendocrine tumors may occur in the setting of multiple endocrine neoplasia type 1 (MEN1) syndrome. Among these, a probably underestimated prevalence of well differentiated neuroendocrine thymic carcinoma (carcinoid), a neoplasm characterized by very aggressive behavior, has been described. We report characterization of the seven Italian cases in which this association occurred (...) of this pathology, in subjects with affected relatives presenting this feature. Thus, we recommend screening every patient affected with a neuroendocrine thymic neoplasm for MEN1 syndrome.

2005 Journal of Clinical Endocrinology and Metabolism

7167. Carcinogenic hypergastrinemia: signet-ring cell carcinoma in a patient with multiple endocrine neoplasia type 1 with Zollinger-Ellison's syndrome. Full Text available with Trip Pro

Carcinogenic hypergastrinemia: signet-ring cell carcinoma in a patient with multiple endocrine neoplasia type 1 with Zollinger-Ellison's syndrome. Gastric neuroendocrine tumors are rare neoplasms that originate from gastric enterochromaffin-like (ECL) cells in the oxyntic mucosa. Gastrin and its derivates have been reported to regulate epithelial cell proliferation, migration, and differentiation. Mutations in the epithelial cadherin (E-cadherin) gene have been shown to be associated (...) with the occurrence of diffuse gastric carcinomas in affected families.In this study we investigated the histopathological and molecular findings in the gastrointestinal wall of a patient with multiple endocrine neoplasia type 1 with malignant duodenal gastrinoma and multiple gastric ECL cell tumors, who additionally developed a signet-ring cell carcinoma of the stomach.Biopsies from the gastrointestinal tract of a patient with multiple endocrine neoplasia type 1 were immunostained for vesicular monoamine

2007 Journal of Clinical Endocrinology and Metabolism

7168. Fine-scale mapping of the gene responsible for multiple endocrine neoplasia type 1 (MEN 1). Full Text available with Trip Pro

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

7169. Pituitary Tumors and Hyperplasia in Multiple Endocrine Neoplasia Type 1 Syndrome (MEN1): A Case-Control Study in a Series of 77 Patients Versus 2509 Non-MEN1 Patients. (Abstract)

Pituitary Tumors and Hyperplasia in Multiple Endocrine Neoplasia Type 1 Syndrome (MEN1): A Case-Control Study in a Series of 77 Patients Versus 2509 Non-MEN1 Patients. Patients affected by the multiple endocrine neoplasia type I syndrome (MEN1) display a high incidence of pituitary adenomas, though it is still unknown whether these pituitary tumors have specific pathologic features that would distinguish them from sporadic pituitary adenomas. Pituitary tissue specimens of 77 MEN1 patients from (...) the GTE (Groupe d'étude des Tumeurs Endocrines) register were compared with unselected 2509 non-MEN1 sporadic pituitary tumors and also to a control subgroup of 296 cases, where 1 MEN1 tumor was matched with 4 sporadic tumors of the same hormonal immunoprofile. Sex, age, size, and invasiveness of tumors, and menin gene mutations were documented. Histologic analysis took into account 33 items, including immunocytochemical data, the proliferative marker Ki-67, and an examination of the juxtatumoral

2008 American Journal of Surgical Pathology

7170. Meningiomas may be a component tumor of multiple endocrine neoplasia type 1. (Abstract)

Meningiomas may be a component tumor of multiple endocrine neoplasia type 1. Recently, an increased incidence of some nonendocrine tumors are reported in patients with multiple endocrine neoplasia type 1 (MEN 1). There are rare reports of meningiomas and other central nervous system tumors in these patients, but it is unknown if they are more frequent or if allelic loss of the MEN1 gene is important in their pathogenesis. The aim of this study was to address these two latter questions.Results (...) from a prospective study of 74 MEN 1 patients with suspected/proven pancreatic endocrine tumors (PETs) were analyzed, as well as molecular studies performed on a resected meningioma. All patients had serial brain imaging studies (computed tomography, magnetic resonance imaging, and octreoscanning since 1994) and yearly studies evaluating MEN 1 involvement with a mean follow-up of 7.2 years. Results were compared with 185 patients with sporadic Zollinger-Ellison syndrome.Six patients (8%) had

2004 Clinical Cancer Research

7171. Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism. Full Text available with Trip Pro

Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism. Primary hyperparathyroidism (HPT) presents as a part of inherited syndromes such as multiple endocrine neoplasia (MEN) types 1 and 2. In patients with MEN1, parathyroid hyperplasia or multiple adenomas occur in approximately 90-95%. MEN2A-related HPT is characterized by a mild hypercalcemia, which (...) the typical phenotype of MEN1 or MEN2, and also the course of diseases seems to be unchanged. The reason may be that both mutations, although contributing to tumor pathogenesis, do not interact and induce a worsening of the cancer syndromes.

2005 Journal of Clinical Endocrinology and Metabolism

7172. Gonadotroph tumor associated with multiple endocrine neoplasia type 1. Full Text available with Trip Pro

Gonadotroph tumor associated with multiple endocrine neoplasia type 1. Although anterior pituitary tumors constitute a main clinical feature of multiple endocrine neoplasia type 1 (MEN1), and most types of pituitary tumors have been associated with MEN1, gonadotroph tumors have not previously been recognized clinically as part of this syndrome. We report here a woman who presented with ovarian hyperstimulation due to a gonadotroph tumor that was confirmed biochemically and immunohistochemically (...) . She then developed hyperparathyroidism, and she was found to have three hypercellular parathyroid glands. Subsequently, she developed a temporal lobe metastasis of the gonadotroph tumor, demonstrating that it was a gonadotroph carcinoma. The diagnosis of MEN1 was confirmed by finding a deletion mutation (c.307delC) on the second exon of the MEN1 gene that predicts truncation of the resulting menin protein 15 codons downstream from the deletion (p.Leu103fsX15). This case illustrates

2005 Journal of Clinical Endocrinology and Metabolism

7173. 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 available with Trip Pro

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 (...) , a mapping that is consistent with previously published data. Our map places the human leukocyte antigen genes CD5 and CD20 far from the bcl-1 locus, indicating that CD5 and CD20 expression is unlikely to be altered by bcl-1 rearrangements. PPP1A, which has been postulated as a MEN-1 candidate tumor suppressor gene, and GST3, a gene transcriptionally active in many human cancers, both map distal to the bcl-1 translocation cluster and the region containing MEN-1, and therefore are unlikely to be directly

1991 American Journal of Human Genetics

7174. Influence of multiple endocrine neoplasia type 1 on gastric endocrine cells in patients with the Zollinger-Ellison syndrome. Full Text available with Trip Pro

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

7175. SWOG-9239 Reduction of Immunosuppression Plus Interferon Alfa and Combination Chemotherapy in Treating Patients With Malignant Tumors That Develop After Organ Transplant

or other noninvasive cancers Carcinoma in situ of the cervix Not pregnant or nursing Fertile patients must use effective contraception PRIOR CONCURRENT THERAPY: Biologic therapy: No prior interferon for lymphoma No prior bone marrow transplantation Chemotherapy: No prior chemotherapy for lymphoma Endocrine therapy: Not specified Radiotherapy: Not specified Surgery: See Disease Characteristics Other: Intra-aortic balloon pump allowed only for heart failure caused by acute rejection or lymphomatous (...) stage III grade 3 follicular lymphoma stage III adult diffuse small cleaved cell lymphoma Additional relevant MeSH terms: Layout table for MeSH terms Lymphoma Multiple Myeloma Neoplasms, Plasma Cell Plasmacytoma Neoplasms by Histologic Type Neoplasms Lymphoproliferative Disorders Lymphatic Diseases Immunoproliferative Disorders Immune System Diseases Hemostatic Disorders Vascular Diseases Cardiovascular Diseases Paraproteinemias Blood Protein Disorders Hematologic Diseases Hemorrhagic Disorders

1999 Clinical Trials

7176. Prospective evaluation of imaging procedures for the detection of pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. (Abstract)

Prospective evaluation of imaging procedures for the detection of pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. Early identification of pancreaticoduodenal endocrine tumors (PETs) in multiple endocrine neoplasia type 1 (MEN-1) is mandatory, because these tumors represent the most common cause of death within the syndrome. The diagnostic value of imaging procedures has therefore been evaluated in a prospective observational study. Between December (...) 1997 and June 2003 twenty-two MEN-1 patients with genetically confirmed disease were followed for PETs using a standardized screening program with serum hormone measurements, endoscopic ultrasonography (EUS), computed tomography (CT), and somatostatin-receptor scintigraphy (SRS). Results could be validated by surgery and histopathology in 13 patients during 18 operations. In 12 asymptomatic patients with tumors measuring 10 mm or less, who have not yet undergone operation, PETs were detected by EUS

2004 World Journal of Surgery

7177. Management of pancreatic endocrine tumors in multiple endocrine neoplasia type 1. (Abstract)

Management of pancreatic endocrine tumors in multiple endocrine neoplasia type 1. Pancreatic endocrine tumors (PETs) occur in at least 50% of patients with multiple endocrine neoplasia type 1 (MEN1) and are the leading cause of disease-specific mortality. However, the timing and extent of surgery for MEN1-related PETs is controversial owing to the indolent tumor growth seen in most patients and the desire to avoid complications associated with insulin dependence. To help resolve (...) evidence of disease, and 1 (2%) was lost to follow-up. The median OS was 19.5 years (range 13-26 years) and was significantly longer for patients who had functioning PETs versus those with nonfunctioning tumors (P = 0.0007), for patients who underwent surgical resection of their PETs versus those who did not (P = 0.0043), and for patients with localized versus metastatic PETs at the time of diagnosis (P < 0.0001). Multivariate analysis revealed that younger age, hormonal function, and PET resection

2006 World Journal of Surgery

7178. Prospective endoscopic ultrasonographic evaluation of the frequency of nonfunctioning pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. (Abstract)

Prospective endoscopic ultrasonographic evaluation of the frequency of nonfunctioning pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. The frequency of pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1 (MEN1) remains unknown.To evaluate prospectively with endoscopic ultrasonography (EUS) the frequency of nonfunctioning (asymptomatic) pancreaticoduodenal tumors.MEN1 patients without functioning pancreatic (...) history, biochemical anomalies. Sixteen of twenty-six patients underwent EUS monitoring over 50 [12-70] months; six (37.5%) had more and/or larger pancreatic lesions.The frequency of nonfunctioning pancreatic endocrine tumors is higher (54.9%) than previously thought. The size and number of these tumors can increase over time. Pancreatic EUS should be performed once MEN1 is diagnosed to monitor disease progression.

2006 American Journal of Gastroenterology

7179. Multiple endocrine neoplasia type 1 (MEN1): loss of one MEN1 allele in tumors and monohormonal endocrine cell clusters but not in islet hyperplasia of the pancreas. Full Text available with Trip Pro

Multiple endocrine neoplasia type 1 (MEN1): loss of one MEN1 allele in tumors and monohormonal endocrine cell clusters but not in islet hyperplasia of the pancreas. The occurrence of multiple small pancreatic endocrine tumors in patients suffering from multiple endocrine neoplasia type 1 (MEN1) represents a unique possibility to study early neoplasms and their potential precursor lesions. To date, it is unknown whether small islet-like endocrine cell clusters found in MEN1 patients (...) are neoplastic or rather hyperplastic. It is also unclear whether microadenomas develop from islets.We hypothesized that monohormonal endocrine cell clusters observed in MEN1 patients are small neoplasms with loss of heterozygosity of the MEN1 locus. Using a technique combining fluorescence in situ hybridization of the MEN1 locus and the centromeric region of chromosome 11q with hormone immunostaining, we examined resection specimens from four MEN1 patients. We focused our investigations on the following: 1

2007 Journal of Clinical Endocrinology and Metabolism

7180. Endoscopic ultrasonography for evaluation of pancreatic tumours in multiple endocrine neoplasia type 1. (Abstract)

Endoscopic ultrasonography for evaluation of pancreatic tumours in multiple endocrine neoplasia type 1. Pancreatic tumours are common in patients with multiple endocrine neoplasia type 1 (MEN1), and close surveillance is needed to detect pancreatic lesions at an early stage. Conventional radiology is inefficient in verifying the small tumours indicated by biochemical screening. During the past decade, endoscopic ultrasonography (EUS) has evolved as a sensitive method for the detection of small (...) histopathologically. No lesion was detected in any of the 11 patients with no tumour detected by EUS.EUS is a more sensitive technique for the detection and localization of potentially malignant lesions in patients with MEN1 than computed tomography or transabdominal ultrasonography.Copyright (c) 2005 British Journal of Surgery Society Ltd. Published by John Wiley & Sons, Ltd.

2005 British Journal of Surgery

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