A A Pract 2018 Apr;10(8):195-197

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

J Clin Endocrinol Metab 2018 Mar 30. Epub 2018 Mar 30.

Department of Endocrine Oncology, University Medical Center Utrecht, The Netherlands.

Objective: Multiple Endocrine Neoplasia type 1 (MEN1) is a hereditary disease characterized by a high risk of developing primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors (dpNETs) and pituitary tumors (PIT). Up to now, it is unclear if having MEN1 leads to psychological distress because of fear of disease occurrence (FDO), thereby potentially affecting quality of life.

Design: A cross-sectional study was performed using the Dutch MEN1 cohort. Read More

J Mol Endocrinol 2018 Apr 3. Epub 2018 Apr 3.

S Agarwal, NIDDK, Metabolic Diseases Branch, National Institutes of Health, Bethesda, 20892, United States

Epigenetic regulation is emerging as a key feature in the molecular characteristics of various human diseases. Epigenetic aberrations can occur from mutations in genes associated with epigenetic regulation, improper deposition, removal or reading of histone modifications, DNA methylation/demethylation, and impaired non-coding RNA interactions in chromatin. Menin, the protein product of the gene causative for the multiple endocrine neoplasia type 1 (MEN1) syndrome, interacts with chromatin-associated protein complexes and also regulates some non-coding RNAs, thus participating in epigenetic control mechanisms. Read More

J Thorac Dis 2018 Feb;10(2):E125-E129

Department of Lung Cancer Surgery, Lung Cancer Institute, Tianjin Medical University General Hospital, Tianjin 300052, China.

Thymic carcinoid is a rare but very aggressive neuroendocrine tumour derived from the neuroendocrine system. Here we report a male patient with thymic atypical carcinoid. Though thymic carcinoid is relatively common, the gene sequencing profile was performed and the gene sequencing result indicated germline multiple endocrine neoplasia type 1 (MEN1) mutation and two somatic mutations on gene and no copy number variation or fusion events were detected. Read More

Ann Surg 2018 Apr;267(4):782-788

Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.

Objective: To determine the role of reoperation in patients with persistent or recurrent Zollinger-Ellison Syndrome (ZES).

Background: Approximately, 0% to 60% of ZES patients are disease-free (DF) after an initial operation, but the tumor may recur.

Methods: A prospective database was queried. Read More

Case Rep Oncol 2018 Jan-Apr;11(1):49-54. Epub 2018 Jan 19.

aDepartment of Comprehensive Cancer Therapy, Shinshu University School of Medicine, Matsumoto, Japan.

Pulmonary neuroendocrine tumors are rare, and there have been very few reports regarding optimal chemotherapeutic regimens. Two molecular targeted agents, everolimus and sunitinib, have recently been shown to provide an additional treatment benefit for pulmonary neuroendocrine tumors. However, little information is available regarding the usefulness of streptozocin chemotherapy. Read More

Endocrine 2018 Mar 1. Epub 2018 Mar 1.

Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

Purpose: Multiple endocrine neoplasia type 1 (MEN1) is caused by germline inactivating mutations of the MEN1 gene. Currently, no direct genotype-phenotype correlation is identified. We aim to analyze MEN1 mutation site and features, and possible correlations between the mutation type and/or the affected menin functional domain and clinical presentation in patients from the Italian multicenter MEN1 database, one of the largest worldwide MEN1 mutation series published to date. Read More

Mol Clin Oncol 2018 Mar 29;8(3):449-452. Epub 2017 Dec 29.

Department of Clinical and Experimental Medicine, Unit of Endocrinology I, University of Pisa, I-56124 Pisa, Italy.

Absence of neoplastic disease in the organ-recipient is required in order to allow organ transplantation. Due to its rarity, no data regarding management of patients with Multiple endocrine neoplasia type 1 (MEN1) and end-stage renal failure candidates for kidney transplantation are available. A 36 year-old man was referred to the present hospital with MEN1, with a neuroendocrine pancreatic tumor and primary hyperparathyroidism and associated Alport syndrome with end stage renal failure. Read More

Nat Rev Endocrinol 2018 Apr 16;14(4):216-227. Epub 2018 Feb 16.

Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK.

Pancreatic neuroendocrine tumours (PNETs) might occur as a non-familial isolated endocrinopathy or as part of a complex hereditary syndrome, such as multiple endocrine neoplasia type 1 (MEN1). MEN1 is an autosomal dominant disorder characterized by the combined occurrence of PNETs with tumours of the parathyroids and anterior pituitary. Treatments for primary PNETs include surgery. Read More

Clin Endocrinol (Oxf) 2018 May 6;88(5):683-691. Epub 2018 Mar 6.

Department of Diabetes & Endocrinology, Royal Hobart Hospital, Hobart, TAS, Australia.

Context: Bronchopulmonary neuroendocrine tumours (bpNETs) and thymic carcinoid (ThC) are features of multiple endocrine neoplasia type 1 (MEN 1), and surveillance guidelines recommend periodic thoracic imaging. The optimal thoracic imaging modality and screening frequency remain uncertain as does the prognosis of small lung nodules when identified.

Objectives: To evaluate fluorodeoxyglucose positron emission tomography/computed tomography ( F-FDG PET/CT) for identification and prognostic assessment of thoracic lesions in MEN 1. Read More

Orv Hetil 2018 Feb;159(7):285-292

II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1088.

The common features of hereditary endocrine tumour syndromes or multiple endocrine neoplasias (MEN) are the association of various tumours of different endocrine organs in one patient or within the same family. Different types can be distinguished from among which type 1 and type 2 are the most common. The mode of inheritance is autosomal dominant, meaning that there is a 50% chance to inherit the pathogenic alteration. Read More

Oncotarget 2018 Jan 7;9(2):1577-1586. Epub 2017 Dec 7.

Department of Biochemistry and Molecular Biology, School of Life Sciences, Central South University, Changsha, China.

Heterozygous germline mutation of the tumor suppressor gene is responsible for multiple endocrine neoplasia type 1. Parathyroid and thoracic neuroendocrine tumor specimens and DNA from two Han Chinese MEN1 family patients were analyzed using whole exome and Sanger sequencing. The proband (II-3) was sequentially diagnosed with pituitary adenoma, pancreatic tumor, adrenal cortical tumor, abdominal lipoma, and parathyroid adenoma during the 6-year follow-up. Read More

Gan To Kagaku Ryoho 2017 Nov;44(12):1114-1116

Dept. of Gastroenterological Surgery, Saitama Cancer Center.

We herein report 2 cases of laparoscopic total gastrectomy(LTG)in patient with multiple gastric neuroendocrine tumor (NET)related to multiple endocrine neoplasia type 1(MEN1). Case 1: A 66-year-old female was diagnosed with multiple gastric NET. There was no finding of any other tumor, and parathyroid function was normal. Read More

Surgery 2018 Jan 12. Epub 2018 Jan 12.

Department of Endocrinology, VU University Medical Center, Amsterdam, The Netherlands. Electronic address:

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

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

J Pathol Transl Med 2018 Mar 21;52(2):126-129. 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

JBRA Assist Reprod 2018 Mar 1;22(1):67-70. Epub 2018 Mar 1.

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

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 mutation and a somatic 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 mutation. Read More

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

J Int Med Res 2018 Feb 14;46(2):908-915. Epub 2017 Sep 14.

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

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

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

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

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

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

Eur J Med Genet 2018 Apr 23;61(4):181-184. 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

Cancer 2018 Feb 17;124(3):636-647. 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

World J Surg 2018 05;42(5):1448

University of Calgary, Surgery, Calgary, Canada.

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

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 or . Read More

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

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

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

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

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 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

World J Surg 2018 05;42(5):1440-1447

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

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

Curr Opin Allergy Clin Immunol 2017 12;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

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

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

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

Oncogene 2018 Feb 9;37(5):616-626. 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 (Men1) develop multifocal OF in the mandible with a 100% penetrance. Read More

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

J Surg Oncol 2017 Dec 2;116(8):1197-1199. Epub 2017 Oct 2.

Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

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