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Clin Endocrinol (Oxf) 2018 Jun 21. Epub 2018 Jun 21.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, 20892.

Objective: Cushing disease (CD) is a rare entity caused by ACTH-secreting pituitary tumors, leading to prolonged hypercortisolism. Most cases are sporadic but can rarely occur in the context of familial predisposition, due to germline mutations in genes such as MEN1, leading to multiple endocrine neoplasia type 1, MEN1. We have reported previously that CD can be the first and only presenting manifestation of MEN1. Read More

Clin Exp Med 2018 Jun 20. Epub 2018 Jun 20.

Department of Biomedical Sciences and Human Oncology - Unit of Endocrine, Digestive and Emergency Surgery, University "A. Moro" of Bari. Polyclinic of Bari, Piazza Giulio Cesare, 1, 70124, Bari, Italy.

The aim of this report was to illustrate a case of parathyroid carcinoma (PC) in a patient with multiple endocrine neoplasia type 1 (MEN1) along with a comprehensive literature review. A 61-year-old man presented with 9-cm PC causing primary hyperparathyroidism (PHPT). His pre-operative corrected calcium and intact PTH serum levels were 2. Read More

Adv Anat Pathol 2018 Jun 14. Epub 2018 Jun 14.

Departments of Pathology, Massachusetts General Hospital, Boston, MA.

This review focuses on discussing the main modifications of the recently published 2017 WHO Classification of Neoplasms of the Neuroendocrine Pancreas (panNEN). Recent updates separate pancreatic neuroendocrine tumors into 2 broad categories: well-differentiated pancreatic neuroendocrine tumors (panNET) and poorly differentiated pancreatic neuroendocrine carcinoma (panNEC), and incorporates a new subcategory of "well-differentiated high-grade NET (G3)" to the well-differentiated NET category. This new classification algorithm aims to improve the prediction of clinical outcomes and survival and help clinicians select better therapeutic strategies for patient care and management. Read More

Endocrinol Diabetes Nutr 2018 Jun 14. Epub 2018 Jun 14.

Sección de Endocrinología y Nutrición, Hospital Universitario de Guadalajara, Guadalajara, España.

Presse Med 2018 Jun 13. Epub 2018 Jun 13.

Centre hospitalier de Saint-Denis, service d'endocrinologie, 2, rue du Docteur-Delafontaine, BP 279, 93205 Saint-Denis cedex, France. Electronic address:

Multiple endocrine neoplasia type 1 is a rare genetic syndrome, characterized by the co-occurrence, in the same individual or in related individuals of the same family, of hyperparathyroidism, duodenopancraetic neuroendocrine tumors, pituitary adenomas, adrenocortical tumors, and neuroendocrine tumors (carcinoids) in the thymus, the bronchi, or the stomach. Multiple endocrine neoplastic type 2 is a rare genetic syndrome, characterized by the familial occurrence of medullary thyroid carcinoma either isolated or associated with pheochromocytoma, primary hyperparathyroidism, or typical features (Marfanoid habitus, mucosal neuromas). Subjects with clinical MEN1 and those who carry a mutation in the MEN1 gene should be offered biochemical and imaging screening in order to detect tumors and evaluate their progression over time. Read More

Eur J Endocrinol 2018 Jun 14. Epub 2018 Jun 14.

M Vriens, Department of Oncology, University Medical Center Utrecht, Utrecht, Netherlands

Objective: Epigenetic changes contribute to pancreatic neuroendocrine tumor (PanNET) development. Hypermethylation of promoter DNA as a cause of tumor suppressor gene silencing is a well-established oncogenic mechanism that is potentially reversible and therefore an interesting therapeutic target. Multiple Endocrine Neoplasia type 1 (MEN1) is the most frequent cause of inherited PanNETs. Read More

J Clin Endocrinol Metab 2018 Apr;103(4):1296-1301

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is complex with regard to clinical expressions, management, and molecular pathways. Advances are being made broadly and in focused aspects. Selected topics are presented for their developments since publication of the most recent MEN1 consensus guidelines 6 years ago. Read More

Surgery 2018 Jun;163(6):1325-1329

Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address:

Anticancer Res 2018 Jun;38(6):3683-3687

Department of Surgery, Federal University of Minas Gerais, Belo Horizonte, Brazil

Background/aim: Familial multiple endocrine neoplasia type 1 (MEN1) is a rare disorder mostly associated with germline MEN1 mutations.

Materials And Methods: Genotyping of the MEN1, cyclin-dependent kinase inhibitor 1B (CDKN1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes using Sanger sequencing was carried out in a family with MEN1 and the resulting germline variants genotyped in an additional 95 ethnically matched controls.

Results: A missense variant in AIP (p. Read More

Oncol Lett 2018 May 6;15(5):7123-7131. Epub 2018 Mar 6.

Department of General Surgery, China-Japan Friendship Hospital, Beijing 100029, P.R. China.

Multiple endocrine neoplasia type 1 (MEN1) is associated with a heterozygous inherited mutation of the menin 1 () gene; however, the molecular pathogenesis remains to be fully elucidated. In the present study, whole exome sequencing was performed on two pancreatic neuroendocrine tumors (PNETs), termed T1 and T2, peri-tumoral tissue (PT) and a blood sample obtained from a patient with MEN1. The cells in T1 and T2, but not PT, showed loss of chromosome 11 where was located, confirming that the loss of heterozygosity (LOH) of was a crucial event in tumorigenesis. Read More

Digestion 2018 Apr 26;98(2):112-118. Epub 2018 Apr 26.

Division of Endocrinology and Diabetology, University Hospital, Philipp's University, Marburg, Germany.

Aim: Pancreatic neuroendocrine tumors (pNETs) can occur in patients with a familial syndrome either as multiple endocrine neoplasia type 1 (MEN-1) or as sporadic tumors. Endoscopic ultrasound (EUS) has become one of the first-line investigations for pNET characterization. The ultrasonographic features of pNETs may differ depending on the familial versus sporadic pathogenesis of the tumor. Read More

J Urol 2018 May 17;199(5):1107. Epub 2018 Feb 17.

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 Jun;103(6):2354-2361

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

Objective: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary disease characterized by a high risk of developing primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors, and pituitary tumors (PITs). 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 Jul 3;61(1):R13-R24. Epub 2018 Apr 3.

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIHBethesda, Maryland, USA

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

Gastroenterology 2018 Jun 2;154(8):2060-2063.e8. Epub 2018 Mar 2.

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania. Electronic address:

Despite prognostic grading and staging systems, it is a challenge to predict outcomes for patients with pancreatic neuroendocrine tumors (PanNETs). Sequencing studies of PanNETs have identified alterations in death domain-associated protein (DAXX) and alpha-thalassemia/mental retardation X-linked chromatin remodeler (ATRX). In tumors, mutations in DAXX or ATRX and corresponding loss of protein expression correlate with shorter times of disease-free survival and disease-specific survival of patients. 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 Jun 12;163(6):1325-1329. 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 2018 06;42(6):1772-1778

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 2018 Jun 13;41(6):655-661. 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 01 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 01 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