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    2341 results match your criteria Multiple Endocrine Neoplasia Type 1

    1 OF 47

    Increased Expression of GLP-1R in Proliferating Islets of Men1 Mice is Detectable by [68Ga]Ga-DO3A-VS-Cys40-Exendin-4 /PET.
    Sci Rep 2018 Jan 15;8(1):748. Epub 2018 Jan 15.
    Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
    Multiple endocrine neoplasia type 1 (MEN1) is an endocrine tumor syndrome caused by heterozygous mutations in the MEN1 tumor suppressor gene. The MEN1 pancreas of the adolescent gene carrier frequently contain diffusely spread pre-neoplasias and microadenomas, progressing to macroscopic and potentially malignant pancreatic neuroendocrine tumors (P-NET), which represents the major death cause in MEN1. The unveiling of the molecular mechanism of P-NET which is not currently understood fully to allow the optimization of diagnostics and treatment. Read More

    PPoma Review: Epidemiology, Aetiopathogenesis, Prognosis and Treatment.
    Diseases 2018 Jan 11;6(1). Epub 2018 Jan 11.
    Brazilian Nuclear Energy Commission, Nuclear Engineering Institute, Rio de Janeiro 21941906, Brazil.
    Generally, pancreatic polypeptide-secreting tumor of the distal pancreas (PPoma) is classified as a rare tumor, and may occur sporadically or be associated in families or with multiple endocrine neoplasia type 1 (NEM 1). It grows slowly, reaching large dimensions at the time of diagnosis and the symptomatology is fundamentally due to the mass effect, causing either non-specific abdominal pain or symptoms suggestive of obstruction of the pancreatic or biliary duct. Therefore, when detected, they are usually malignant, with metastases mainly in the liver. Read More

    Multiple Neuroendocrine Tumors in Stomach and Duodenum in a Multiple Endocrine Neoplasia Type 1 Patient.
    J Pathol Transl Med 2017 Dec 21. Epub 2017 Dec 21.
    Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
    A 67-year-old woman with a history of subtotal parathyroidectomy, distal pancreatectomy and total splenectomy 23 years prior underwent surgical gastric resection for neuroendocrine tumors of the stomach and duodenum. Meticulous examination of the entire stomach and duodenum revealed multiple scattered, minute neuroendocrine tumors. To the best of our knowledge, this is the first case report of a patient diagnosed with gastroduodenal neuroendocrine tumors associated with multiple endocrine neoplasia type 1 (MEN 1) in whom complete histologic mapping of the whole gastrectomy specimen was performed. Read More

    Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report.
    JBRA Assist Reprod 2017 Dec 21. Epub 2017 Dec 21.
    Perola Byington Hospital - Women's Health Reference Center.
    Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a successful preimplantation genetic diagnosis (PGD) involving a couple at-risk for MEN1 syndrome, with a birth of a healthy infant. Read More

    Somatic VHL Mutation in a Patient With MEN1-Associated Metastatic Pancreatic Neuroendocrine Tumor Responding to Sunitinib Treatment: A Case Report.
    J Endocr Soc 2017 Sep 7;1(9):1124-1134. Epub 2017 Jul 7.
    Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.
    Multiple endocrine neoplasia type 1 (MEN1) and von Hippel-Lindau (VHL) are autosomal-dominant diseases caused by germline mutations in tumor-suppressor genes. A patient with a germline MEN1 mutation and a somatic VHL mutation in the tumor has not been reported. Herein, we report on a patient with MEN1 and a metastatic nonfunctioning pancreatic neuroendocrine tumor (PNET) with a somatic VHL mutation. Read More

    The LARO-MEN1 study: a longitudinal clinical experience with octreotide Long-Acting Release in patients with Multiple Endocrine Neoplasia type 1 Syndrome.
    Clin Cases Miner Bone Metab 2017 May-Aug;14(2):123-130. Epub 2017 Oct 25.
    Bone and Mineral Metabolism Unit, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
    Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumoral syndrome, featured by a combination of neoplasms of various endocrine and nonendocrine tissues. Approximately 33% of MEN1-related deaths are due to the malignant behaviour of well-differentiated neuroendocrine tumors (NETs), for which a preventive surgical treatment is not feasible. Somatostatin analogues (SSA) have been employed in the treatment of NETs in the stage of advanced or metastatic disease, in order to control the growth and secretion of tumor lesions. Read More

    Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1.
    J Int Med Res 2017 Jan 1:300060517728653. Epub 2017 Jan 1.
    1 Department of Endocrinology, Tianjin Medical University General Hospital, Heping District, Tianjin, China.
    Nonfunctional pancreatic neuroendocrine tumors (NF-pNETs) in patients with multiple endocrine neoplasia type 1 (MEN1), which results from a mutation in the MEN1 gene, are commonly small, multiple tumors located in the pancreatic head and inside the pancreatic parenchyma. We herein describe a 35-year-old woman with bone pain and a 7-year history of a prolactinoma. She was clinically diagnosed with MEN1 based on the presence of the prolactinoma and parathyroid hyperplasia. Read More

    Molecular alterations of neuroendocrine tumours of the lung.
    Histopathology 2018 Jan;72(1):142-152
    Department of Oncology, University of Turin and Pathology Unit, AOU Città della Salute e della Scienza, Torino, Italy.
    Neuroendocrine tumours of the lung comprise low [typical carcinoid (TC)], intermediate [atypical carcinoid (AC)] and high-grade [small-cell lung cancer (SCLC) and large-cell neuroendocrine carcinoma (LCNEC)] malignancies, while a pre-invasive lesion [diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)] may generate a subset of peripheral carcinoid tumours. These neoplasms are differentiated conventionally based on mitotic rate, presence of necrosis and cytological details, according to the 2015 World Health Organisation (WHO) classification. Clinical data and molecular alterations distinguish carcinoids and high-grade carcinomas into two separate categories. Read More

    Simultaneous Glucagon and Vasoactive Intestinal Peptide Producing Pancreatic Neuroendocrine Tumors in a Patient With Multiple Endocrine Neoplasia Type 1: A Case Report and Literature Review.
    Pancreas 2018 01;47(1):e1-e2
    Division of Endocrinology and Metabolism Albany Medical College Albany, NY Department of Pathology Albany Medical College Albany, NY Division of Endocrinology and Metabolism Albany Medical College Albany, NY

    Intraoperative Near-Infrared Fluorescence Imaging of Multiple Pancreatic Neuroendocrine Tumors: A Case Report.
    Pancreas 2018 Jan;47(1):130-133
    Multiple endocrine neoplasia type 1 syndrome can feature pancreatic neuroendocrine lesions that have the potential to degenerate into malignancies (pancreatic neuroendocrine tumors [PNETs]). Resection is required in selected cases and aims to cure patients and to prevent metastasis. Preoperative imaging is important to assess the number, size, and location of PNETs. Read More

    Coexistence of GH-Producing Pituitary Macroadenoma and Meningioma in a Patient with Multiple Endocrine Neoplasia Type 1 with Hyperglycemia and Ketosis as First Clinical Sign.
    Case Rep Endocrinol 2017 1;2017:2390797. Epub 2017 Nov 1.
    Service of Endocrinology and Nutrition, University Clinical Hospital of Salamanca, Paseo de San Vicente No. 58, 37007 Salamanca, Spain.
    We present the clinical case of a patient who was admitted with an onset of diabetes mellitus (DM) with associated ketosis and whose clinical, hormonal, and radiological evolution revealed the presence of primary hyperparathyroidism, pancreatic neuroendocrine tumor, and GH-producing pituitary macroadenoma in the context of multiple endocrine neoplasia type 1 (MEN1). DM is relatively common in cases of acromegaly, but it is not generally associated with ketosis. Simultaneously, the patient presented a meningioma, which is associated with pituitary macroadenoma only in extremely rare cases. Read More

    A primary hepatic gastrinoma accompanied by hyperplasia of multi-nodular Brunner's glands.
    Surg Case Rep 2017 Nov 28;3(1):118. Epub 2017 Nov 28.
    Department of Gastroenterological Surgery, Kansai Electric Power Hospital, 2-1-7 Fukushima, Fukushima-ku, Osaka, 553-0003, Japan.
    Background: Primary hepatic gastrinoma causing severe ulcerogenic syndrome is extremely rare. Herein, we report a case of primary hepatic gastrinoma accompanied by hyperplasia of multi-nodular Brunner's glands in a patient who instead, preoperatively, was suspected of having multiple duodenal gastrinomas and hepatic metastasis.

    Case Presentation: A 57-year-old woman consulted a clinic complaining of melena, intermittent abdominal pain, diarrhea, and vomiting which had persisted for about 3 years. Read More

    Pancreatic hemi-agenesis in MEN1: A clinical report.
    Eur J Med Genet 2017 Nov 23. Epub 2017 Nov 23.
    Centre for Human Genetics, KU Leuven, Leuven, Belgium.
    We first describe a patient with multiple endocrine neoplasia type 1 (MEN1) and dorsal pancreatic hemi-agenesis. Previously, pancreas divisum has been reported in MEN1. Recent data in mice have elucidated the molecular mechanisms of pancreatic endoderm specification. Read More

    Transcriptional alterations in hereditary and sporadic nonfunctioning pancreatic neuroendocrine tumors according to genotype.
    Cancer 2017 Nov 17. Epub 2017 Nov 17.
    Endocrine Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
    Background: Nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) may be sporadic or inherited because of germline mutations associated with von Hippel-Lindau disease (VHL) or multiple endocrine neoplasia type 1 (MEN1). The clinical behavior of NFPanNETs is difficult to predict, even in tumors of the same stage and grade. The authors analyzed genotype-specific patterns of transcriptional messenger RNA (mRNA) levels of NFPanNETs to understand the molecular features that determine PanNET phenotype. Read More

    Impact of "Tailored" Parathyroidectomy for Treatment of Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1.
    World J Surg 2017 Nov 14. Epub 2017 Nov 14.
    Department of Breast and Endocrine Surgery, Tokyo Women's Medical University, 8-1 Kawada-cho Shinjuku-ku, Tokyo, 162-8666, Japan.
    Background: Whether total parathyroidectomy (TPTX) or subtotal parathyroidectomy (SPTX) should be performed for primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia type 1 (MEN1) is controversial. At our institution, the parathyroidectomy strategy is based on the number of enlarged intraoperative parathyroid glands. We retrospectively analyzed our parathyroidectomy procedures. Read More

    Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue.
    Horm Metab Res 2017 Nov 14;49(11):805-815. Epub 2017 Nov 14.
    Hospital das Clinicas, University of São Paulo School of Medicine Sao Paulo, Sao Paulo, Brazil.
    Six syndromes of familial hyperparathyroidism are compared: 1) Familial hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH secretion from outwardly normal parathyroid glands. It reflects germline heterozygous mutation in CASR, GNA11, or AP2S1. Read More

    Expression of p27Kip1 and p18Ink4c in human multiple endocrine neoplasia type 1-related pancreatic neuroendocrine tumors.
    J Endocrinol Invest 2017 Nov 13. Epub 2017 Nov 13.
    Department of Surgery, University Medical Center Utrecht, PO box 85500, 3508 GA, Utrecht, The Netherlands.
    Purpose: Pancreatic neuroendocrine tumors are a major manifestation of multiple endocrine neoplasia type 1 (MEN1). This tumor syndrome is caused by germline mutations in MEN1, encoding menin. Insight into pathogenesis of these tumors might lead to new biomarkers and therapeutic targets for these patients. Read More

    Health-related quality of life in MEN1 patients compared with other chronic conditions and the United States general population.
    Surgery 2018 Jan 8;163(1):205-211. Epub 2017 Nov 8.
    Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL. Electronic address:
    Background: Health-related quality of life (HRQOL) in multiple endocrine neoplasia type-1 (MEN-1) is poorly described. HRQOL in MEN-1 was compared with other chronic conditions and the US general population.

    Methods: Adults aged ≥18 years recruited from an MEN-1 support group (n=153) completed the Patient-Reported Outcomes Measurement Information System (PROMIS) 29-item profile. Read More

    Genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: A 23-year experience at a single institution.
    Surgery 2018 Jan 6;163(1):212-217. Epub 2017 Nov 6.
    Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address:
    Background: The aim of this study was to investigate the genotype-phenotype relationship of pancreatic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1 treated at our institution.

    Methods: We conducted a retrospective chart review of all patients with multiple endocrine neoplasia type 1 treated at our center from January 1993 to December 2015. Presence of a pancreatic neuroendocrine tumor was determined based on imaging performed at any time from presentation to conclusion of follow-up. Read More

    Multiple endocrine neoplasia type 1 presenting with refractory seizures.
    BMJ Case Rep 2017 Nov 1;2017. Epub 2017 Nov 1.
    Department of Neurology, Sawai Mansingh Medical College and Hospital, Jaipur, India.
    We report a case of 29-year-old woman referred to us for management of refractory epilepsy. Under observation, she was detected to have recurrent hypoglycaemia during the episodes of seizures. On investigation, she was found to have hyperinsulinemic hypoglycaemia. Read More

    Rupture of small cystic pancreatic neuroendocrine tumor with many microtumors.
    World J Gastroenterol 2017 Oct;23(37):6911-6919
    Department of Gastroenterology, Faculty of Medicine, Oita University, Yuhu 8795503, Japan.
    Pancreatic neuroendocrine tumors (pNETs) are particularly rare. The various forms of PNETs, such as cystic degeneration, make differentiation from other similar pancreatic lesions difficult. We can detect small lesions by endoscopic ultrasound (EUS) and obtain preoperative pathological diagnosis by EUS-guided fine needle aspiration (FNA). Read More

    A Case Report of Recurrent Severe Peripartum Cardiomyopathy Complicated by Factor V Leiden and Multiple Endocrine Neoplasia Type 1: A Management Conundrum.
    A A Case Rep 2017 Oct 26. Epub 2017 Oct 26.
    From the Department of Anesthesiology, University of Virginia, Charlottesville, Virginia.
    Cardiovascular disease is the leading cause of peripartum death in the United States during pregnancy. The presence of concomitant diagnoses may complicate or conflict with the management of the primary cardiovascular diagnosis and further complicate pregnancy and delivery. We describe the management of a 29-year-old, gravida 5, para 1 woman with severe peripartum cardiomyopathy during this and a previous pregnancy complicated by multiple endocrine neoplasia type and factor V Leiden thrombophilia, limiting therapeutic options and contributing to considerable perioperative management challenges. Read More

    Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1.
    World J Surg 2017 Oct 26. Epub 2017 Oct 26.
    Department of Visceral, Thoracic and Vascular Surgery, Philipps-University Marburg, Marburg, Germany.
    Background: Radiological tumor size of non-functioning pancreatic neuroendocrine neoplasms (Nf-pNENs) associated with multiple endocrine neoplasia type 1 (MEN1) is a crucial parameter to indicate surgery. The aim of this study was to compare radiological size (RS) and pathologic size (PS) of MEN1 associated with pNENs.

    Methods: Prospectively collected data of MEN1 patients who underwent pancreatic resections for pNENs were retrospectively analyzed. Read More

    Novel Germline p.Gly42Val MEN1 Mutation in a Family with Multiple Endocrine Neoplasia Type 1 - Excellent Response of Prolactinoma to Cabergoline.
    Ann Clin Lab Sci 2017 Sep;47(5):606-610
    Endocrinology, William Harvey Research Institute, Bart's and the London School of Medicine, Queen Mary University of London, London, UK
    We report on a 27-year-old male patient presenting with renal colic secondary to hyperparathyroidism. Further investigations confirmed a diagnosis of type 1 multiple endocrine neoplasia and revealed a 2.0 cm pancreatic neuroendocrine tumour as well as a pituitary macroadenoma with significantly elevated prolactin levels. Read More

    Inherited and acquired clinical phenotypes associated with neuroendocrine tumors.
    Curr Opin Allergy Clin Immunol 2017 Dec;17(6):431-442
    aDepartment of Pediatrics bDepartment of Internal Medicine, Division of Allergy and Immunology cChildren's Health, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
    Purpose Of Review: Overview of neuroendocrine neoplasms in the context of their associations with primary and secondary immunodeficiency states.

    Recent Findings: Malignancies of neuroendocrine origin are well known to be associated with hereditary syndromes, including multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis. This review includes the X-linked form of hyper-IgM syndrome (XHIGM), due to mutations in the CD40Ligand gene (CD40LG), as an additional inherited disorder with susceptibility to such malignancies, and discusses neuroendocrine tumors (NETs) arising in other immunocompromised states. Read More

    Analysis of MEN1 c.482G>A (p.Gly161Asp) mutation in a pedigree with familial multiple endocrine neoplasia type 1.
    Mol Med Rep 2017 Dec 10;16(6):8973-8976. Epub 2017 Oct 10.
    Department of Endocrinology and Metabolism, Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China.
    Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, which in turn are caused by mutations in the MEN1 gene. In the present study, a case of a 46‑year‑old woman who was clinically diagnosed with MEN1 based on the presence of prolactinoma and bilateral parathyroid adenoma was reported. The patient's serum prolactin (PRL) levels were successfully controlled via bromocriptine therapy, and the serum levels of calcium and intact parathyroid hormone (PTH) reduced one day following parathyroidectomy. Read More

    Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.
    PLoS One 2017 16;12(10):e0186485. Epub 2017 Oct 16.
    University Hospital of Pisa, Endocrine Unit 2, Pisa, Italy.
    The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations. A total of 69 index cases followed at the Endocrinology Unit in Pisa over a period of 19 years, including 54 MEN1 and 15 FIHP kindreds were enrolled. Read More

    Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature.
    Endokrynol Pol 2017 12;68(6):697-707. Epub 2017 Oct 12.
    Department of Endocrinology, Medical University of Lublin, Poland.
    Background The majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients' age at the moment of recognition. Read More

    Deletion of Menin in craniofacial osteogenic cells in mice elicits development of mandibular ossifying fibroma.
    Oncogene 2017 Oct 9. Epub 2017 Oct 9.
    Institute of Comparative Molecular Endocrinology, University of Ulm, Ulm, Germany.
    Ossifying fibroma (OF) is a rare benign tumor of the craniofacial bones that can reach considerable and disfiguring dimensions if left untreated. Although the clinicopathological characteristics of OF are well established, the underlying etiology has remained largely unknown. Our work indicates that Men1-a tumor suppressor gene responsible of Multiple endocrine neoplasia type 1-is critical for OF formation and shows that mice with targeted disruption of Men1 in osteoblasts (Men1Runx2Cre) develop multifocal OF in the mandible with a 100% penetrance. Read More

    Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing.
    BMC Med Genet 2017 10 2;18(1):106. Epub 2017 Oct 2.
    Division of Intractable Diseases, Center for Biomedical Sciences, Korea National Institute of Health, 187 Osongsaengmyeing2-ro, Cheongju-si, Chungcheongbuk-do, 28159, South Korea.
    Background: Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozygous germline inactivating mutation in the MEN1 gene (first hit) may be followed by somatic loss of the remaining normal copy or somatic mutations in the MEN1 gene (second hit). Whole-exome sequencing has been successfully used to elucidate the mutations associated with the different types of tumors. Read More

    MENIN loss as a tissue-specific driver of tumorigenesis.
    Mol Cell Endocrinol 2017 Sep 28. Epub 2017 Sep 28.
    Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA. Electronic address:
    The MEN1 gene encodes MENIN, a tumor suppressor that plays a role in multiple cellular processes. Germline and somatic mutations in MEN1 have been identified in hereditary and sporadic tumors of neuroendocrine origins suggesting context-specific functions. In this review, we focus on the development of mutational Men1 in vivo models, the known cellular activities of MENIN and efforts to identify vulnerabilities in tumors with MENIN loss. Read More

    Clinical features and prognosis of thymic neuroendocrine tumours associated with multiple endocrine neoplasia type 1: A single-centre study, systematic review and meta-analysis.
    Clin Endocrinol (Oxf) 2017 Dec 16;87(6):706-716. Epub 2017 Oct 16.
    Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China.
    Objective: Thymic neuroendocrine tumour (TH-NET) accounts for almost 20% of multiple endocrine neoplasia type 1 (MEN1)-associated mortality. Identifying risk factors for the development of these rare tumours and prognostic factors for clinical outcomes will be helpful in clinical practice.

    Design And Patients: We performed a retrospective analysis of patients treated for TH-NET associated with MEN1 in a single institution and meta-analysis of literature reports. Read More

    Long-Term Natural Course of Small Nonfunctional Pancreatic Neuroendocrine Tumors in MEN1-Results From the Dutch MEN1 Study Group.
    J Clin Endocrinol Metab 2017 Oct;102(10):3795-3805
    Department of Endocrine Oncology, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands.
    Background: Pancreatic neuroendocrine tumors (pNETs) are highly prevalent in patients with multiple endocrine neoplasia type 1 (MEN1), and metastatic disease is an important cause of MEN1-related mortality. Especially small nonfunctional (NF) pNETs pose a challenge to the treating physician and more information is needed regarding their natural course. We assessed long-term natural history of small NF-pNETs and its modifiers in the Dutch MEN1 population. Read More

    Financial burden is associated with worse health-related quality of life in adults with multiple endocrine neoplasia type 1.
    Surgery 2017 Dec 15;162(6):1278-1285. Epub 2017 Sep 15.
    Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL. Electronic address:
    Background: Health-related quality of life and financial burden among patients with multiple endocrine neoplasia type 1 is poorly described. It is not known how financial burden influences health-related quality of life in this population. We hypothesized that the financial burden attributable to multiple endocrine neoplasia type 1 is associated with worse health-related quality of life. Read More

    Disease and treatment factors associated with lower quality of life scores in adults with multiple endocrine neoplasia type I.
    Surgery 2017 Dec 14;162(6):1270-1277. Epub 2017 Sep 14.
    Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL. Electronic address:
    Background: Physical and psychosocial morbidity of multiple endocrine neoplasia type-1 is ill-defined. How disease and treatment-related factors relate to patient-reported outcomes including health-related quality of life is unknown. We hypothesized that disease and treatment burden negatively impacts health-related quality of life in adults with multiple endocrine neoplasia type-1. Read More

    [Multiple endocrine neoplasia].
    Dtsch Med Wochenschr 2017 Sep 8;142(18):1379-1389. Epub 2017 Sep 8.
    Multiple endocrine neoplasia type 1 and 2 are hereditary cancer syndromes. They are characterized by the occurrence of many benign and malignant tumor types, in MEN1 parathyroid tumors, pituitary tumors, and pancreas tumors, in MEN2 medullary thyroid carcinoma, pheochromocytoma, and parathyroid tumors. The autosomal dominant inherited tumor syndromes are caused by mutations in the MEN1 gene, a tumor suppressor gene, and mutations in the RET gene, an activated oncogene, in MEN2. Read More

    The future: genetics advances in MEN1 therapeutic approaches and management strategies.
    Endocr Relat Cancer 2017 Oct;24(10):T119-T134
    Metabolic Diseases BranchNational Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland, USA
    The identification of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997 has shown that germline heterozygous mutations in the MEN1 gene located on chromosome 11q13 predisposes to the development of tumors in the MEN1 syndrome. Tumor development occurs upon loss of the remaining normal copy of the MEN1 gene in MEN1-target tissues. Therefore, MEN1 is a classic tumor suppressor gene in the context of MEN1. Read More

    Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
    Hum Mutat 2017 Dec 25;38(12):1621-1648. Epub 2017 Sep 25.
    Radcliffe Department of Medicine, Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom.
    Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non-syndromic) non-hereditary (i. Read More

    Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome.
    Endocr Connect 2017 Nov 4;6(8):557-565. Epub 2017 Sep 4.
    Department and Laboratory of Inherited Endocrine DisordersEndocrinology Research Center, Moscow, Russian Federation.
    Background: Primary hyperparathyroidism (PHPT) is a relatively rare disorder among children, adolescents and young adults. Its development at an early age is suspicious for hereditary causes, though the need for routine genetic testing remains controversial.

    Objective: To identify and describe hereditary forms of PHPT in patients with manifestation of the disease under 40 years of age. Read More

    Epigenetic regulation by the menin pathway.
    Endocr Relat Cancer 2017 Oct 15;24(10):T147-T159. Epub 2017 Aug 15.
    Department of Cancer BiologyAbramson Family Cancer Research Institute, Abramson Cancer Center, Institute of Diabetes, Obesity, and Metabolism (IDOM), University of Pennsylvania, Philadelphia, Pennsylvania, USA
    There is a trend of increasing prevalence of neuroendocrine tumors (NETs), and the inherited multiple endocrine neoplasia type 1 (MEN1) syndrome serves as a genetic model to investigate how NETs develop and the underlying mechanisms. Menin, encoded by the MEN1 gene, at least partly acts as a scaffold protein by interacting with multiple partners to regulate cellular homeostasis of various endocrine organs. Menin has multiple functions including regulation of several important signaling pathways by controlling gene transcription. Read More

    Twenty years of menin: emerging opportunities for restoration of transcriptional regulation in MEN1.
    Endocr Relat Cancer 2017 Oct 15;24(10):T135-T145. Epub 2017 Aug 15.
    Department of Medical OncologyDana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA
    Since the discovery of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997, elucidation of the molecular function of its protein product, menin, has been a challenge. Biochemical, proteomics, genetics and genomics approaches have identified various potential roles, which converge on gene expression regulation. The most consistent findings show that menin connects transcription factors and chromatin-modifying enzymes, in particular, the histone H3K4 methyltransferase complexes MLL1 and MLL2. Read More

    The future: surgical advances in MEN1 therapeutic approaches and management strategies.
    Endocr Relat Cancer 2017 Oct 15;24(10):T243-T260. Epub 2017 Aug 15.
    Thoracic and Endocrine Surgery and Faculty of MedicineUniversity Hospitals of Geneva, Geneva, Switzerland
    Multiple endocrine neoplasia type 1 (MEN1) is a hereditary autosomal dominant disorder associated with numerous neuroendocrine tumors (NETs). Recent advances in the management of MEN1 have led to a decrease in mortality due to excess hormones; however, they have also led to an increase in mortality from malignancy, particularly NETs. The main challenges are to localize these tumors, to select those that need therapy because of the risk of aggressive behavior and to select the appropriate therapy associated with minimal morbidity. Read More

    Prognostic value of WHO grade in pancreatic neuro-endocrine tumors in Multiple Endocrine Neoplasia type 1: Results from the DutchMEN1 Study Group.
    Pancreatology 2017 Sep - Oct;17(5):766-772. Epub 2017 Jul 31.
    Department of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:
    Background: The prognostic value of WHO grade in pancreatic neuroendocrine tumors (PanNETs) in patients with Multiple Endocrine Neoplasia Type 1 (MEN1) is unknown.

    Methods: We performed a cohort study using the Dutch National MEN1 database, which includes >90% of the Dutch MEN1 population with data collected between 1990 and 2014. Formalin-fixed paraffin embedded tissue blocks from the largest resected PanNET per patient were collected. Read More

    The future: diagnostic and imaging advances in MEN1 therapeutic approaches and management strategies.
    Endocr Relat Cancer 2017 Oct 8;24(10):T209-T225. Epub 2017 Aug 8.
    Department of VisceralThoracic and Vascular Surgery, Philipps University Marburg, Marburg, Germany.
    Prospective randomized data are lacking, but current clinical expert guidelines recommend annual screening examinations, including laboratory assessments and various imaging modalities (e.g. CT, MRI, scintigraphy and EUS) for patients with multiple endocrine neoplasia type 1 (MEN1). Read More

    Direct interaction of menin leads to ubiquitin-proteasomal degradation of β-catenin.
    Biochem Biophys Res Commun 2017 10 4;492(1):128-134. Epub 2017 Aug 4.
    School of Pharmacy, Sungkyunkwan University, Suwon 440-746, South Korea. Electronic address:
    Menin, encoded by the multiple endocrine neoplasia type 1 (MEN1) gene, is a tumor suppressor and transcription regulator. Menin interacts with various proteins as a scaffold protein and is proposed to play important roles in multiple physiological and pathological processes by controlling gene expression, proliferation, and apoptosis. The mechanisms underlying menin's suppression of tumorigenesis are largely elusive. Read More

    Catching the Zebra: Clinical Pearls and Pitfalls for the Successful Diagnosis of Zollinger-Ellison Syndrome.
    Dig Dis Sci 2017 09 3;62(9):2258-2265. Epub 2017 Aug 3.
    Division of Gastroenterology and Hepatology, Department of Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    Zollinger-Ellison syndrome (ZES) results from an ectopic gastrin-secreting tumor leading to peptic ulcer disease, reflux, and chronic diarrhea. While early recognition portends an excellent prognosis with >80% survival at 15 years, symptoms are often nonspecific making the diagnosis difficult to establish. Diagnosis involves a series of tests, including fasting gastrin, gastric pH, chromogranin A, and secretin stimulation. Read More

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