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Multiple Endocrine Neoplasia Type 1

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121. Penetrance of functioning and non-functioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life. (PubMed)

Penetrance of functioning and non-functioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life. Data are scarce on the penetrance of multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-PETs) and insulinomas in young MEN1 patients. A potential positive correlation between tumor size and malignancy (2-3 cm, 18%; >3 cm, 43%) has greatly influenced the management of MEN1 adults with NF-PETs.The (...) of the 11 (54%) screened patients aged 15-20 years who underwent an EUS had NF-PETs. Potential false-positive EUS results were excluded based on EUS-guided biopsy results, the reproducibility of the NF-PET findings, or the observation of increased tumor size during follow-up. Distal pancreatectomy and the nodule enucleation of pancreatic head tumors were conducted on three patients with large tumors (>2.0 cm; T2N0M0) that were classified as grade 1 neuroendocrine tumors (Ki-67<2%).Our data demonstrated

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2013 Journal of Clinical Endocrinology and Metabolism

122. Low Accuracy of Tumor Markers for Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients. (PubMed)

Low Accuracy of Tumor Markers for Diagnosing Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1 Patients. The assessment of tumor markers for diagnosing pancreatic neuroendocrine tumors (pNET) in multiple endocrine neoplasia type 1 (MEN1) patients is advised in the current guidelines but has never been validated for this purpose.The objective of the study was to assess the diagnostic accuracy of chromogranin A (CgA), pancreatic polypeptide (PP), and glucagon for pNET

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2013 Journal of Clinical Endocrinology and Metabolism

123. Shortness: an unknown phenotype of multiple endocrine neoplasia type 1. (PubMed)

Shortness: an unknown phenotype of multiple endocrine neoplasia type 1. An observation of shortness among the female participants of a regular screening program in multiple endocrine neoplasia type 1 (MEN1) patients has raised the question as to whether shortness represents a phenotype characteristic of the disease.The body height (cm) of genetically confirmed MEN1 patients at the time of diagnosis was compared with the body height of their unaffected relatives (parents, siblings, and children

2013 European Journal of Endocrinology

125. Utility of Intraoperative Parathyroid Hormone Monitoring in Patients with Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism Undergoing Initial Parathyroidectomy. (PubMed)

Utility of Intraoperative Parathyroid Hormone Monitoring in Patients with Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism Undergoing Initial Parathyroidectomy. Intraoperative parathyroid hormone monitoring (IOPTH) is a widely used adjunct for primary hyperparathyroidism (pHPT). However, the benefit of IOPTH in familial pHPT, such as in multiple endocrine neoplasia type I (MEN1), remains unclear.We performed a retrospective analysis of 52 patients with MEN1-associated

2013 World Journal of Surgery

126. Tanycytic ependymoma of the filum terminale associated with multiple endocrine neoplasia Type 1: first reported case. (PubMed)

Tanycytic ependymoma of the filum terminale associated with multiple endocrine neoplasia Type 1: first reported case. Ependymoma associated with multiple endocrine neoplasia type 1 (MEN-1) is an extremely rare clinical entity. To the best of our knowledge, only five cases of ependymoma associated with MEN-1 have been previously described. Furthermore, there has been no case of tanycytic ependymoma of the filum terminale associated with MEN-1.The present case report illustrates a 53-year-old man (...) with tanycytic ependymoma of the filum terminale associated with MEN-1. We review the literature on ependymoma with MEN-1 and tanycytic ependymoma of the cauda equina region and also discuss the risk of recurrence.A case report.The patient presented with complaints of nocturnal pain in the lower back, accompanied by numbness around the anus and intermittent claudication for approximately 1 year. Magnetic resonance imaging (MRI) identified an intradural-enhancing, large mass lesion at the level from Th12

2013 The Spine Journal

127. Case 200: gastric enterochromaffinlike cell tumors in a patient with type 1 multiple endocrine neoplasia. (PubMed)

Case 200: gastric enterochromaffinlike cell tumors in a patient with type 1 multiple endocrine neoplasia. History A 55-year-old man presented with chronic epigastric pain lasting for about 1 year and without fever or vomiting. The abdomen was soft and tender at physical examination. Laboratory tests revealed unremarkable liver function, normal hemoglobin level, and normal amylase level. White blood cell count was normal, and there was no inflammatory syndrome. The patient's medical history (...) included pancreatic gastrinoma resected by means of left pancreatectomy 31 years before, hyperparathyroidism treated with subtotal parathyroidectomy 24 years before, and a slowly growing lung mass known for 9 years. Esophagogastroduodenoscopy was performed because of a suspected gastroduodenal ulcer. The results showed numerous small (<10 mm) gastric and duodenal ulcers and multiple 10-15-mm polypoid gastric masses. Contrast material-enhanced dual-phase multidetector row computed tomography (CT

2013 Radiology

128. A randomized, prospective trial of operative treatments for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. (PubMed)

A randomized, prospective trial of operative treatments for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Hyperparathyroidism (HPT) in multiple endocrine neoplasia (MEN) type 1 is associated with multiglandular parathyroid disease. Previous retrospective studies comparing subtotal parathyroidectomy (SP) and total parathyroidectomy with autotransplantation (TP/AT) have not established clearly better outcomes with either procedure.Patients were assigned randomly (...) %) overall. The rate of permanent hypoparathyroidism was 12% in the SP group (2/17) and 7% in the TP/AT group (1/15). A second operation was performed in 4 of 17 patients initially treated with SP (24%), compared with 1 of 15 patients undergoing TP/AT (7%; P = .34).This randomized trial of SP and TP/AT in patients with MEN 1 failed to show any difference in outcomes when comparing results of SP versus TP/AT. Both procedures are associated with acceptable results, but SP may have advantages

2014 Surgery Controlled trial quality: uncertain

129. Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1 (PubMed)

Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1 Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder characterized by the simultaneous occurrence of endocrine tumors in target tissues (mainly the pituitary, endocrine pancreas, and parathyroid glands). MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor suppressor and consists of one (...) untranslated exon and nine exons encoding the menin protein. This condition is usually suspected when we encounter patients diagnosed with tumors in multiple endocrine organs, as mentioned above.A 65-year-old woman who underwent surgery for a pancreatic tumor (serous cystadenoma) 5 years previously was referred to our hospital due to neurologic symptoms of diplopia and left ptosis. Brain magnetic resonance imaging revealed a 3.4-cm lesion originating from the cavernous sinus wall and extending

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2014 Endocrinology and Metabolism

130. Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1 (PubMed)

Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1 Multiple endocrine neoplasia type 1 (MEN1) is a familial syndrome characterized by the parathyroid, pancreas and pituitary tumors. Parathyroid tumors are the most common clinical manifestations, occurring in more than 90% of MEN1 patients. Heterozygous germline mutations of the MENIN gene underlie the tumorigenesis in MEN1 and epigenetic alterations along with germline mutations may contribute

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2014 Endocrinology and Metabolism

131. Exploring the tumors of multiple endocrine neoplasia type 1 in mouse models for basic and preclinical studies (PubMed)

Exploring the tumors of multiple endocrine neoplasia type 1 in mouse models for basic and preclinical studies Most patients (70-90%) with the multiple endocrine neoplasia type 1 (MEN1) syndrome possess germline heterozygous mutations in MEN1 that predisposes to tumors of multiple endocrine and nonendocrine tissues. Some endocrine tumors of the kinds seen in MEN1 that occur sporadically in the general population also possess somatic mutations in MEN1. Interestingly, the endocrine tumors of MEN1 (...) are recapitulated in mouse models of Men1 loss that serve as a valuable resource to understand the pathophysiology and molecular basis of tumorigenesis. Exploring these endocrine tumors in mouse models using in vivo, ex vivo and in vitro methods can help to follow the process of tumorigenesis, and can be useful for preclinical testing of therapeutics and understanding their mechanisms of action.

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2014 International journal of endocrine oncology

132. A new association – multiple endocrine neoplasia type 1 and malignant peripheral nerve sheath tumor (PubMed)

A new association – multiple endocrine neoplasia type 1 and malignant peripheral nerve sheath tumor We report a patient with multiple endocrine neoplasia type 1 (MEN-1) and an aggressive malignant peripheral nerve sheath tumor (MPNST) arising from a ganglioneuroma of the adrenal gland. Patients with MEN-1 require careful consideration of other tumor associations, including MPNST, as it can portend a poor prognosis. MEN-1 and MPNST have not been reported. We report a patient with multiple (...) endocrine neoplasia type 1 (MEN-1) and an aggressive malignant peripheral nerve sheath tumor (MPNST) arising from a ganglioneuroma of the adrenal gland. Patients with MEN-1 require careful consideration of other tumor associations, including MPNST, as it can portend a poor prognosis. MEN-1 and MPNST have not been reported.

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2014 Clinical Case Reports

133. Safety and Efficacy of Percutaneous Parathyroid Ethanol Ablation in Patients with Recurrent Primary Hyperparathyroidism and Multiple Endocrine Neoplasia Type 1. (PubMed)

Safety and Efficacy of Percutaneous Parathyroid Ethanol Ablation in Patients with Recurrent Primary Hyperparathyroidism and Multiple Endocrine Neoplasia Type 1. The most common feature of multiple endocrine neoplasia type 1 (MEN1) is primary hyperparathyroidism (PHP), which occurs in approximately 95% of MEN1 patients. Approximately 40-60% of patients with MEN1 develop recurrent hypercalcemia within 10-12 years after their initial parathyroid surgery and the successful management of recurrent

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2014 Journal of Clinical Endocrinology and Metabolism

134. Preoperative multiple endocrine neoplasia type 1 diagnosis improves the surgical outcomes of pediatric patients with primary hyperparathyroidism. (PubMed)

Preoperative multiple endocrine neoplasia type 1 diagnosis improves the surgical outcomes of pediatric patients with primary hyperparathyroidism. Primary hyperparathyroidism (PHPT) is uncommon in children. The surgical management of PHPT in children has evolved over the past two decades.A retrospective study of patients who underwent parathyroidectomy for PHPT diagnosed at age < 18 years and managed at a tertiary referral center for endocrine and familial disorders.Thirty-eight patients met (...) eligibility criteria (1981-2012). Median age at PHPT diagnosis was 15 years. Two-thirds of patients were symptomatic (68%, n=26), most commonly from nephrolithiasis. Twenty-six (68%) patients underwent a standard cervical exploration while 32% underwent a focused unilateral parathyroidectomy. Multiple endocrine neoplasia type 1 (MEN1) was diagnosed preoperatively in 22/26 patients. Patients with a preoperative diagnosis of MEN1 were more likely to undergo a complete initial operation (≥ 3 gland

2014 Journal of Pediatric Surgery

135. Association of Type-O Blood with Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1. (PubMed)

Association of Type-O Blood with Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1. The ABO blood type system describes the expression of human blood group antigens found on both erythrocytes and normal tissue throughout the body. We recently reported an association between O blood type and the manifestation of pancreatic neuroendocrine tumors in a cohort of patients with Von Hippel-Lindau syndrome.The aim of the study was to determine whether there is an association of ABO blood (...) type with the development of neuroendocrine tumors in patients with multiple endocrine neoplasia, type 1 (MEN-1).A retrospective analysis of 105 patients with MEN-1 was performed. Demographic, clinical, and biochemical data were analyzed by ABO blood type. Fisher's exact test was used to determine association between ABO blood type and manifestation of neuroendocrine tumor.Demographic and clinical characteristics were similar amongst blood type cohorts. We found an association between O blood type

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2012 Journal of Clinical Endocrinology and Metabolism

136. Surgical treatment of pancreatic endocrine tumors in multiple endocrine neoplasia type 1 (PubMed)

Surgical treatment of pancreatic endocrine tumors in multiple endocrine neoplasia type 1 Surgical approaches to pancreatic endocrine tumors associated with multiple endocrine neoplasia type 1 may differ greatly from those applied to sporadic pancreatic endocrine tumors. Presurgical diagnosis of multiple endocrine neoplasia type 1 is therefore crucial to plan a proper intervention. Of note, hyperparathyroidism/multiple endocrine neoplasia type 1 should be surgically treated before pancreatic (...) endocrine tumors/multiple endocrine neoplasia type 1 resection, apart from insulinoma. Non-functioning pancreatic endocrine tumors/multiple endocrine neoplasia type 1 >1 cm have a high risk of malignancy and should be treated by a pancreatic resection associated with lymphadenectomy. The vast majority of patients with gastrinoma/multiple endocrine neoplasia type 1 present with tumor lesions at the duodenum, so the surgery of choice is subtotal or total pancreatoduodenectomy followed by regional

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2012 Clinics

138. Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association? (PubMed)

Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association? Diagnosis of multiple endocrine neoplasia type 1 (MEN1) is commonly based on clinical criteria, and confirmed by genetic testing. In patients without known MEN1-related germline mutations, the possibility of a casual association between two or more endocrine tumors cannot be excluded and subsequent management may be difficult to plan. We describe a very uncommon (...) pHPT were diagnosed and, since family history was negative, sporadic MEN1 was suspected. However, genetic testing revealed neither MEN-1 nor other gene mutations responsible for rarer cases of MEN1 (CDKN1B/p27 and other cyclin-dependent kinase inhibitor genes CDKN1A/p15, CDKN2C/p18, CDKN2B/p21). The patient underwent distal splenopancreatectomy and at the 4-month follow-up she showed complete remission of symptoms. Six months later, a thyroid nodule, suspected to be a malignant neoplasia, and two

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2012 BMC Cancer

139. Preoperative Assessment of the Pancreas in Multiple Endocrine Neoplasia Type 1. (PubMed)

Preoperative Assessment of the Pancreas in Multiple Endocrine Neoplasia Type 1. Many serologic and radiographic modalities are used for monitoring multiple endocrine neoplasia type 1 (MEN 1) patients for pancreaticoduodenal neuroendocrine tumors (PNETs). We compared serum markers and imaging studies obtained preoperatively with the gross pathology and immunohistochemical findings and correlated preoperative testing with postoperative outcome.From 2000 to 2008, 52 MEN 1 patients [32 (62%) female (...) ). Overall survival was 89% at 5-year follow-up.Our study substantiates EUS as providing the highest preoperative sensitivity and PPV in assessing the presence of PNETs in MEN 1 patients. CT and octreotide scintigraphy can yield both false-positive and false-negative results. HPP, gastrin, and glucagon were the most commonly measured tumor markers in our series but did not always correlate with immunostaining. With an aggressive surgical approach, satisfactory rates of biochemical improvement and long

2012 World Journal of Surgery

140. Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1). (PubMed)

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1). The aim was to provide guidelines for evaluation, treatment, and genetic testing for multiple endocrine neoplasia type 1 (MEN1).The group, which comprised 10 experts, including physicians, surgeons, and geneticists from international centers, received no corporate funding or remuneration.Guidelines were developed by reviews of peer-reviewed publications; a draft was prepared, reviewed, and rigorously revised at several (...) pituitary tumors. Some patients may also develop carcinoid tumors, adrenocortical tumors, meningiomas, facial angiofibromas, collagenomas, and lipomas. Patients with MEN1 have a decreased life expectancy, and the outcomes of current treatments, which are generally similar to those for the respective tumors occurring in non-MEN1 patients, are not as successful because of multiple tumors, which may be larger, more aggressive, and resistant to treatment, and the concurrence of metastases. The prognosis

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2012 Journal of Clinical Endocrinology and Metabolism

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