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Endocrinol Diabetes Metab Case Rep 2021 Apr 1;2021. Epub 2021 Apr 1.

Endocrinology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.

Summary: A 38-year-old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.1304delG) through predictive genetic testing, following a diagnosis of familial hyperparathyroidism. Routine screening for parathyroid and pituitary disease was negative. Read More

Int J Mol Sci 2021 Apr 14;22(8). Epub 2021 Apr 14.

F.I.R.M.O. Italian Foundation for the Research on Bone Diseases, Via Reginaldo Giuliani 195/A, 50141 Florence, Italy.

Pancreatic neuroendocrine tumors (pNETs) are a rare group of cancers accounting for about 1-2% of all pancreatic neoplasms. About 10% of pNETs arise within endocrine tumor syndromes, such as Multiple Endocrine Neoplasia type 1 (MEN1). pNETs affect 30-80% of MEN1 patients, manifesting prevalently as multiple microadenomas. Read More

Semin Cancer Biol 2021 Apr 24. Epub 2021 Apr 24.

ENETS Neuroendocrine Tumor Centre of Excellence, Rigshospitalet, Copenhagen University Hospital, Denmark; Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Denmark; Institute of Clinical Medicine, Faculty of Health Sciences, Copenhagen University, Denmark. Electronic address:

Neuroendocrine neoplasms (NENs) are relatively rare neoplasms with 6.4-times increasing age-adjusted annual incidence during the last four decades. NENs arise from neuroendocrine cells, which release hormones in response to neuronal stimuli and they are distributed into organs and tissues. Read More

Horm Metab Res 2021 May 20;53(5):319-325. Epub 2021 Apr 20.

Division of Endocrinology and Metabolism, Sheba Medical Center at Tel Hashomer, Tel Hashomer, Israel.

Pancreatic neuroendocrine tumors (PNET) may develop sporadically or in the context of hereditary syndromes. In patients with multiple endocrine neoplasia type 1 (MEN1), PNET is the leading cause of death. Our aim was to compare the mortality risk in sporadic and MEN1-related PNETs and identify high-risk populations. Read More

Endocr Pract 2020 Nov 14;26(11):1366-1383. Epub 2020 Dec 14.

Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan. Electronic address:

Objective: The aim of this Disease State Clinical Review is to provide a practical approach to patients with newly diagnosed adrenocortical carcinoma, as well as to follow-up and management of patients with persistent or recurrent disease.

Methods: This is a case-based clinical review. The provided recommendations are based on evidence available from randomized prospective clinical studies, cohort studies, cross-sectional and case-based studies, and expert opinions. Read More

Horm Metab Res 2021 Apr 14;53(4):245-256. Epub 2021 Apr 14.

Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, Tamil Nadu, India.

Multiple Endocrine Neoplasia type-1 (MEN1) is an autosomal dominant disorder with a combined occurrence of tumours of parathyroid glands, pancreatic islets, and anterior pituitary. About 90% of these patients carry mutations in the MEN1 gene, though the spectrum is not well defined in India. Forty clinically suspected cases of MEN1 were enrolled prospectively over six years; 32 patients (23 index-cases and nine affected relatives) with≥2 classical endocrine tumours of MEN1 were considered definite, and eight were categorised as 'MEN1-like'. Read More

Biomed Res 2021 ;42(2):89-94

Shizuoka Cancer Center.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant tumor syndrome. This hereditary cancer is caused by germline variants in MEN1. Two patients with MEN1 were identified via whole exome sequencing and gene expression profile analysis, conducted for 5,063 patients with various types of cancers. Read More

Ann Endocrinol (Paris) 2021 Apr 8;82(2):112-120. Epub 2021 Apr 8.

Institut CardioMet, Toulouse, France; Service d'endocrinologie, hôpital Larrey, 24, chemin de Pouvourville, 31029 Toulouse cedex 9, France. Electronic address:

In 1953, for the first time, Paul Wermer described a family presenting endocrine gland neoplasms over several generations. The transmission was autosomal dominant and the penetrance was high. Forty years later in 1997, the multiple endocrine neoplasia type 1 (MEN1) gene was sequenced, thus enabling diagnosis and early optimal treatment. Read More

Genes (Basel) 2021 Mar 31;12(4). Epub 2021 Mar 31.

Department of Endocrinology, Jagiellonian University Medical College, 31-008 Cracow, Poland.

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the variant c. Read More

J Clin Med 2021 Mar 29;10(7). Epub 2021 Mar 29.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.

Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined pituitary tumour type. This is true both for germline and somatic mutations. Germline mutations occur in several known genes (, , , , , , , ) as well as familial cases with currently unknown genes, while somatic mutations in are present in up to 40% of tumours. Read More

Int J Mol Sci 2021 Feb 18;22(4). Epub 2021 Feb 18.

Department of Biomedical, Surgical and Dental Sciences, University of Milan, 20122 Milan, Italy.

The Hippo pathway is involved in human tumorigenesis and tissue repair. Here, we investigated the Hippo coactivator Yes-associated protein 1 (YAP1) and the kinase large tumor suppressor 1/2 (LATS1/2) in tumors of the parathyroid glands, which are almost invariably associated with primary hyperparathyroidism. Compared with normal parathyroid glands, parathyroid adenomas (PAds) and carcinomas show variably but reduced nuclear YAP1 expression. Read More

World J Surg 2021 Jun 1;45(6):1794-1802. Epub 2021 Mar 1.

Department of Digestive and Endocrine Surgery, Dijon University Hospital, University of Burgundy, Dijon, France.

Aim: To assess postoperative complications and control of hormone secretions following pancreatoduodenectomy (PD) performed on multiple endocrine neoplasia type 1 (MEN1) patients with duodenopancreatic neuroendocrine tumors (DP-NETs).

Background: The use of PD to treat MEN1 remains controversial, and evaluating the right place of PD in MEN1 disease makes sense.

Methods: Thirty-one MEN1 patients from the Groupe d'étude des Tumeurs Endocrines MEN1 cohort who underwent PD for DP-NETs between 1971 and 2013 were included. Read More

BMC Endocr Disord 2021 Feb 25;21(1):31. Epub 2021 Feb 25.

Department of Endocrinology and Metabolism, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, 892 Dongnam-ro, Gangdong-gu, Seoul, 05278, Republic of Korea.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited syndrome that concurrently involves various endocrine glands. We report a rare case of MEN1 in a 43-year-old man whose first manifestation was an asymptomatic mediastinal mass.

Case Presentation: A 13-cm-sized mediastinal mass was diagnosed as an atypical thymic carcinoid by computed tomography and percutaneous needle biopsy. Read More

Endocrinol Diabetes Metab Case Rep 2021 Feb 17;2021. Epub 2021 Feb 17.

St. Vincent's University Hospital, Dublin, Ireland.

Summary: Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited endocrine disorder with a high rate of penetrance. The incidence of MEN1 is 1/30,000 in the general population; however, it is quite rare for a patient to present for medical attention with MEN1 for the first time in pregnancy. Primary hyperparathyroidism (PHPT) is one of the most common features of MEN1. Read More

Front Endocrinol (Lausanne) 2020 26;11:596554. Epub 2021 Jan 26.

Department of Neurosurgery, China Pituitary Disease Registry Center, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.

Pituitary adenomas (PAs) can be classified as non-secreting adenomas, somatotroph adenomas, corticotroph adenomas, lactotroph adenomas, and thyrotroph adenomas. Substantial advances have been made in our knowledge of the pathobiology of PAs. To obtain a comprehensive understanding of the molecular biological characteristics of different types of PAs, we reviewed the important advances that have been made involving genetic and epigenetic variation, comprising genetic mutations, chromosome number variations, DNA methylation, microRNA regulation, and transcription factor regulation. Read More

Nat Rev Endocrinol 2021 04 9;17(4):207-224. Epub 2021 Feb 9.

Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, Le Kremlin-Bicêtre, France.

Multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by the co-occurrence of primary hyperparathyroidism, duodenopancreatic neuroendocrine tumours (NETs) and/or pituitary adenomas. MEN1 can predispose patients to other endocrine and non-endocrine tumours, such as cutaneous tumours, central nervous system tumours and breast cancer. Endocrine tumours in patients with MEN1 differ from sporadic tumours in that they have a younger age at onset, present as multiple tumours in the same organ and have a different clinical course. Read More

Pediatr Endocrinol Diabetes Metab 2020 ;26(4):220-224

Department of Pediatric and Adolescent Endocrinology, University Children's Hospital of Krakow, Poland.

Abstract: Primary hyperparathyroidism (PHP) in children is a rare condition and has a very dynamic course with nonspecific symptoms, what complicates the diagnosis and delays PHP treatment.

Case Presentation: A 15-year-old boy was admitted to the Orthopedic Ward with the diagnosis of juvenile bilateral slipped capital femoral epiphysis and valgus deformities. Gait disturbances, limb pains and valgus knee deformities, polyuria, polydipsia and weight loss, have been increasing for 8 months. Read More

Endocrine 2021 Mar 4;71(3):663-674. Epub 2021 Feb 4.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.

Background: Pituitary tumours are usually benign and relatively common intracranial tumours, with under- and overexpression of pituitary hormones and local mass effects causing considerable morbidity and increased mortality. While most pituitary tumours are sporadic, around 5% of the cases arise in a familial setting, either isolated [familial isolated pituitary adenoma, related to AIP or X-linked acrogigantism], or in a syndromic disorder, such as multiple endocrine neoplasia type 1 or 4, Carney complex, McCune-Albright syndrome, phaeochromocytoma/paraganglioma with pituitary adenoma, DICER1 syndrome, Lynch syndrome, and USP8-related syndrome. Genetically determined pituitary tumours usually present at younger age and show aggressive behaviour, and are often resistant to different treatment modalities. Read More

Ann Surg Oncol 2021 Jan 31. Epub 2021 Jan 31.

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

Background: Little is known about complications after major duodenopancreatic surgery for duodenopancreatic neuroendocrine tumors (dpNETs) in multiple endocrine neoplasia type 1 (MEN1). Therefore, the incidence and severity of complications after major surgery for MEN1-related dpNETs were assessed.

Methods: Patients were selected from the population-based Dutch MEN1 database if they had undergone a Whipple procedure or total pancreatectomy from 2003 to 2017. Read More

Clin Endocrinol (Oxf) 2021 Jan 28. Epub 2021 Jan 28.

Department of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Marburg, Germany.

Background: Gastric enterochromaffin-like cell (ECL) tumours can occur in patients with multiple endocrine neoplasia type 1 (MEN1), especially in those affected by Zollinger Ellison syndrome (ZES). Since the prevalence of ECL lesions is not well defined yet, the present study evaluated the presence and extent of ECL lesions in MEN1 patients with and without ZES.

Methods: Multiple endocrine neoplasia type 1 patients being part of a regular screening program (2014-2018) underwent gastroduodenoscopies with biopsies of the stomach and determination of serum gastrin and chromogranin A levels. Read More

Cureus 2020 Dec 14;12(12):e12073. Epub 2020 Dec 14.

Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, IND.

Multiple endocrine neoplasia type 1 (MEN1) or Wermer's syndrome is a genetic disease characterized by involvement of multiple endocrine glands, primarily involving parathyroid, pancreas, and pituitary. Other additional features include foregut carcinoids; non-functioning adrenal tumors; and skin lesions such as lipomas, collagenomas, and angiofibromas. Here, we describe our experience in managing a patient who presented to us with spontaneous episodes of hypoglycemia and was diagnosed with insulinoma. Read More

QJM 2021 Jan 18. Epub 2021 Jan 18.

Department of Endocrinology, Peking University First Hospital, Beijing, China.

J Int Med Res 2021 Jan;49(1):300060520961682

Department of Radiology, Hebei General Hospital, Shijiazhuang 050000, China.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant genetic disease. MEN1 with multiple endocrine adenomatosis complicated by multiple endocrine tumors is often misdiagnosed or missed. Herein, we describe the first reported case of refractory hypoglycemia and liver and lung metastases in a patient with MEN1. Read More

BMJ Case Rep 2021 Jan 7;14(1). Epub 2021 Jan 7.

Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.

Acute oesophageal necrosis (AEN) is a rare entity that most commonly presents as upper gastrointestinal bleeding. Complex pathophysiology may include oesophageal ischaemia as well as reflux of acidic gastric contents causing oesophageal mucosal injury. Management is supportive and directed at underlying comorbidities however prognosis is poor with complications such as oesophageal perforation, stricture and stenosis. Read More

Orphanet J Rare Dis 2021 01 6;16(1):16. Epub 2021 Jan 6.

Department of Experimental and Clinical Biomedical Sciences, University of Florence, Largo Palagi 1, 50139, Florence, Italy.

Background: MEN1 is a complex, rare, syndrome inherited in an autosomal dominant tract and characterized by the development of multiple neuroendocrine tumors, requiring lifelong surveillance and multiple medical and surgical therapies throughout the patient's life. For all these reasons, a diagnosis of MEN1 can be a psychological shock for the patient, as well as his/her relatives, more so than the diagnosis of a single tumor. In the last two decades, clinicians have started to consider the emotional, psychological, relational, and social aspects of their patients' lives. Read More

BMJ Case Rep 2020 Dec 21;13(12). Epub 2020 Dec 21.

Surgery, Centro Hospitalar Lisboa Norte EPE, Lisboa, Portugal.

Type 1 multiple endocrine neoplasia (MEN-1) syndrome is an autosomal dominant disease, associated with germline mutations in the MEN-1 tumour suppressor gene (encoding the menin protein). Recent studies, through a better characterisation of the functions of the menin protein, have started to demonstrate how changes in this protein may be related to breast cancer. We present the case of a patient whose diagnosis of MEN-1 syndrome was made during treatment for a breast tumour-this diagnosis was obtained after finding multiple neoplastic lesions that fitted the MEN-1 syndrome spectrum, during the initial staging and subsequent follow-up of a breast tumour. Read More

J Surg Res 2021 Apr 16;260:134-140. Epub 2020 Dec 16.

Division of Pancreatic Surgery, Department of General Surgery, Qilu Hospital, Shandong University, Jinan, Shandong Province, China. Electronic address:

Background: Pancreatic neuroendocrine tumors (pNETs) uncommonly present as cystic lesions. There is a gap in knowledge of their clinicopathological characteristics and biological behaviors. Previous reported studies remained inconsistent and controversial. Read More

Ann Clin Lab Sci 2020 Nov;50(6):825-833

Department of Endocrinology, Hebei General Hospital, Shijiazhaung, China.

The present study reported a rare case with thymic carcinoid as the first manifestation of multiple endocrine neoplasia type 1 (MEN1) syndrome, which presented with gene mutations of the MEN1 and glucokinase regulatory protein (GCKR). In this report, a 40-year-old male was diagnosed as MEN1 syndrome with thymic carcinoid, pancreatic cancer, hyperparathyroidism, and insulinoma with intrahepatic metastasis. Genetic testing showed the mutations of the MEN1 (c. Read More

Front Endocrinol (Lausanne) 2020 18;11:591501. Epub 2020 Nov 18.

Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy.

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant inherited tumor syndrome, associated with parathyroid, pituitary, and gastro-entero-pancreatic (GEP) neuroendocrine tumors (NETs). MEN1 is usually consequent to different germline and somatic mutations of the tumor suppressor gene, although phenocopies have also been reported. This review analyzed main biomedical databases searching for reports on gene mutations and focused on aggressive and aberrant clinical manifestations to investigate the potential genotype-phenotype correlation. Read More