2,568 results match your criteria Wermer Syndrome MEN Type 1


Comprehensive treatment of rare multiple endocrine neoplasia type 1: A case report.

World J Clin Cases 2020 Jun;8(12):2647-2654

Department of Hepatobiliary, Hebei General Hospital, Shijiazhuang 050017, Hebei Province, China.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disorder caused by mutations of the gene. It is characterized by hyperparathyroidism and involves the pancreas, anterior pituitary, duodenum, and adrenal gland. Here, we report a 40-year-old male patient with MEN1 who first manifested as thymic carcinoid, then primary hyperparathyroidism and prolactinoma, and a decade later pancreatic neuroendocrine tumor. Read More

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http://dx.doi.org/10.12998/wjcc.v8.i12.2647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322426PMC

Benefit of diverse surgical approach on short-term outcomes of MEN1-related hyperparathyroidism.

Sci Rep 2020 Jun 30;10(1):10634. Epub 2020 Jun 30.

Department of Internal Medicine, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, 03722, Seoul, Republic of Korea.

Surgical excision is the preferred treatment for multiple endocrine neoplasia type 1 (MEN1)-related primary hyperparathyroidism (PHPT), although controversy regarding the surgical strategy exists. We retrospectively investigated the short-term outcomes of PHPT by various surgical extents. Thirty-three patients who underwent parathyroidectomy due to MEN1-related PHPT at Yonsei Severance Hospital between 2005 and 2018 were included (age [mean ± SD], 43. Read More

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http://dx.doi.org/10.1038/s41598-020-67424-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7326992PMC

Preclinical drug studies in MEN1-related neuroendocrine neoplasms (MEN1-NENs).

Endocr Relat Cancer 2020 Jun 1. Epub 2020 Jun 1.

R Thakker, Radcliffe Department of Medicine, University of Oxford, Endocrine Unit, OXFORD, United Kingdom of Great Britain and Northern Ireland.

Neuroendocrine neoplasms (NENs) occur usually as sporadic tumours; however, rarely, they may arise in the context of a hereditary syndrome, such as multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder characterised by the combined development of pancreatic NENs (pNENs) together with parathyroid and anterior pituitary tumours. The therapeutic decision for sporadic pNENs patients is multi-disciplinary and complex: based on the grade and stage of the tumor, various options (and their combinations) are considered, such as surgical excision (either curative or for debulking aims), biological drugs (somatostatin analogues), targeted therapies (mTOR inhibitors or tyrosine kinases (TK)/receptors inhibitors), peptide receptor radioligand therapy (PRRT), chemotherapy, and liver-directed therapies. However, treatment of MEN1-related NENs' patients is even more challenging, as these tumours are usually multifocal with co-existing foci of heterogeneous biology and malignant potential, rendering them more resistant to the conventional therapies used in their sporadic counterparts, and therefore associated with a poorer prognosis. Read More

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http://dx.doi.org/10.1530/ERC-20-0127DOI Listing

Pancreatic Neuroendocrine Tumors in patients with Multiple Endocrine Neoplasia Type 1: Diagnostic Value of Different MRI Sequences.

Neuroendocrinology 2020 Jun 24. Epub 2020 Jun 24.

Background: Magnetic Resonance Imaging (MRI) is a useful imaging modality to assess the presence of Pancreatic Neuroendocrine Tumors (PNETs), allowing repeat monitoring examinations in MEN-1 patients.

Objectives: We aimed to compare the diagnostic accuracy of conventional MRI sequences identifying which better depict the presence of PNETs in MEN-1 patients.

Method: We performed a retrospective analysis of consecutive MEN-1 patients who underwent a conventional MRI protocol to monitor previously proven PNETs. Read More

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http://dx.doi.org/10.1159/000509647DOI Listing

Imaging and Diagnostic Challenges in a Patient With Refractory Hypoglycemia Caused by Insulinomas Related to Multiple Endocrine Neoplasia Type 1.

Cureus 2020 May 20;12(5):e8208. Epub 2020 May 20.

Internal Medicine, University of Missouri Health Care, Columbia, USA.

Insulinoma is a rare neuroendocrine tumor. It may occur sporadically or as part of the genetic tumor syndrome multiple endocrine neoplasia type 1 (MEN1). Diagnosis is challenging because of the small size of insulin producing tumors that lead to hyperinsulinemia. Read More

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http://dx.doi.org/10.7759/cureus.8208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305576PMC

Multiple Uterine Leiomyomas in Multiple Endocrine Neoplasia Type 1 with a Novel MEN1 Gene Mutation.

J Hum Reprod Sci 2020 Jan-Mar;13(1):75-77. Epub 2020 Apr 7.

Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.

To report the clinical, hormonal, and genetic features of a female with multiple endocrine neoplasia type 1 (MEN1) with multiple uterine leiomyomas. The study was conducted at a tertiary care endocrinology unit. A 27-year-old female was diagnosed with prolactinoma, primary hyperparathyroidism (PHPT), and multiple uterine leiomyomas. Read More

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http://dx.doi.org/10.4103/jhrs.JHRS_42_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295258PMC

Surgical treatment of congenital hyperinsulinism.

Authors:
N Scott Adzick

Semin Pediatr Surg 2020 Jun 17;29(3):150924. Epub 2020 May 17.

Department of Surgery and the Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, 3401 Civic Center Boulevard, Philadelphia, PA 19104, United States. Electronic address:

A multidisciplinary approach to patients with congenital hyperinsulinism (HI) can distinguish focal from diffuse HI, localize focal lesions, and permit partial pancreatectomy with cure in almost all focal patients. Surgery does not cure diffuse disease but can help prevent severe hypoglycemia and brain damage. Surgery can be curative for insulinoma and for some cases of atypical HI. Read More

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http://dx.doi.org/10.1016/j.sempedsurg.2020.150924DOI Listing

Pancreatic Neuroendocrine Neoplasm Associated with a Familial MAX Deletion.

Horm Metab Res 2020 Jun 10. Epub 2020 Jun 10.

Department of Endocrinology, Liège Université, Liège, Belgium.

Most pancreatic neuroendocrine neoplasms (pNEN) occur sporadically but they can also occur as part of multiple endocrine neoplasia type 1 (MEN1). was originally described as an inherited pheochromocytoma-paraganglioma risk gene, but also has recently been implicated in pituitary tumorigenesis. Here we describe the first case of a pNEN associated with an inherited gene deletion in a family with endocrine tumors. Read More

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http://dx.doi.org/10.1055/a-1186-0790DOI Listing

De novo Gastrinoma: A Case Report.

GE Port J Gastroenterol 2020 Apr 9;27(3):192-196. Epub 2019 Oct 9.

Internal Medicine Department, Centro Hospitalar São João, Porto, Portugal.

Gastrinomas are neuroendocrine tumors characterized by gastrin overexpression - 80% are sporadic and 20% are associated with multiple endocrine neoplasia type 1. A 75-year-old male patient, surgically treated at the age of 50 years for gastrinoma, followed on an outpatient basis because of chronic non-bloody diarrhea, was admitted to our hospital because of abdominal pain, watery diarrhea, and nonbiliary vomits. He was hypotensive and showed no response to fluids. Read More

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http://dx.doi.org/10.1159/000503073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250327PMC

History of the multiple endocrine neoplasia workshops and overview of MEN2019.

Endocr Relat Cancer 2020 Jun 1. Epub 2020 Jun 1.

R Gagel, Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, Houston, United States.

The multiple endocrine neoplasia (MEN) workshops had their beginnings at Queen's University in Kingston, Ontario in June, 1984. This initial meeting brought clinicians and scientists together to focus on mapping the gene for multiple endocrine neoplasia type 2 (MEN2). These efforts culminated in the identification of the RET protooncogene as the causative gene a decade later. Read More

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http://dx.doi.org/10.1530/ERC-20-0201DOI Listing

Theranostics in neuroendocrine tumors: an overview of current approaches and future challenges.

Rev Endocr Metab Disord 2020 Jun 3. Epub 2020 Jun 3.

ENETS Center of Excellence for Neuroendocrine and Endocrine Tumors, University Hospital Basel, Basel, Switzerland.

Neuroendocrine neoplasms (NENs) comprise a heterogeneous group of tumors, mainly localized in the gastrointestinal system. What characterizes NENs is the expression of hormone receptors on the tumor cell surface, making them accessible for diagnostic and therapeutic approaches (theranostics) using radiolabelled peptides. Somatostatin receptors subtype-two (SST2) play an important role in NENs since they are overexpressed and homogeneously distributed at the surface of the majority of NENs. Read More

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http://dx.doi.org/10.1007/s11154-020-09552-xDOI Listing

Parathyroid carcinoma coexisting with multiple parathyroid adenomas: a case report.

Endocr J 2020 May 30. Epub 2020 May 30.

Kusatsu General Hosipital, Otolaryngology Head and Neck Thyroid Surgery, Shiga 525-8585, Japan.

Primary hyperparathyroidism is usually caused by parathyroid adenoma; however, parathyroid carcinoma is a rare cause. We report a rare case of 74-year-old female of primary hyperparathyroidism caused by parathyroid carcinoma (PC) and coexisting multiple parathyroid adenomas. She was referred to our hospital for primary hyperparathyroidism and a suspected thyroid tumor. Read More

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http://dx.doi.org/10.1507/endocrj.EJ20-0139DOI Listing

Generation of three induced pluripotent stem cell (iPSC) lines from a multiple endocrine neoplasia type 1 (MEN1) patient and three iPSC lines from an unaffected relative of the patient.

Stem Cell Res 2020 07 16;46:101846. Epub 2020 May 16.

Department of Regenerative Medicine and Stem Cell Biology, Fujita Health University School of Medicine, Toyoake, Japan. Electronic address:

We generated three disease-specific iPSC lines from a Multiple endocrine neoplasia type 1 (MEN1) patient and three control iPSC lines from an unaffected blood relative of the patient using unutilized lymphoblastoid B cell lines (LCLs) as a cell resource. The expression of pluripotency markers, retaining of normal karyotype of chromosome, absence of episomal vectors used for generating the iPSCs and EBV used for generating LCLs, and the potential to differentiate into three germ layers, were confirmed for each iPSC line. These iPSC lines can be useful for construction of the disease models in vitro, and elucidation of the disease mechanisms. Read More

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http://dx.doi.org/10.1016/j.scr.2020.101846DOI Listing

The clinical expression and impact of multiple endocrine neoplasia 1 during pregnancy.

Clin Endocrinol (Oxf) 2020 May 17. Epub 2020 May 17.

Department of Diabetes and Endocrinology, Royal Hobart Hospital, Hobart, Tasmania, Australia.

Context: Multiple endocrine neoplasia type 1 (MEN 1) is characterized by multisystem neoplasia including primary hyperparathyroidism and pituitary adenoma. Despite the adolescent onset of endocrinopathies, information regarding the impact of maternal MEN 1 on pregnancy is limited to case reports.

Objective: To explore pregnancy outcomes in MEN 1 positive women. Read More

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http://dx.doi.org/10.1111/cen.14252DOI Listing

Clues For Genetic Anticipation In Multiple Endocrine Neoplasia Type 1.

J Clin Endocrinol Metab 2020 Jul;105(7)

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

Context: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary disease caused by the loss of function of the MEN1 gene, a tumor-suppressor gene that encodes the protein menin. It is characterized by the occurrence of primary hyperparathyroidism (pHPT), duodenopancreatic neuroendocrine tumors (dpNET), pituitary tumors (PIT), adrenal adenomas, and bronchopulmonary (bp-NET), thymic, and gastric neuroendocrine tumors. More insight into factors influencing the age-related penetrance of MEN1 manifestations could provide clues for more personalized screening programs. Read More

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http://dx.doi.org/10.1210/clinem/dgaa257DOI Listing

ADRENAL INCIDENTALOMA, BREAST CANCER AND UNRECOGNIZED MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.

Authors:
S H Kim J H Park

Acta Endocrinol (Buchar) 2019 Oct-Dec;15(4):513-517

Jeonbuk National University Medical School - Department of Internal Medicine, Jeonju, Republic of Korea.

Background: The incidence of adrenal incidentaloma has been increasing proportional to the use of radiologic examination. Multiple endocrine neoplasia1 (MEN1) syndrome may present with various tumors. The present study reports a case of adrenal incidentaloma with unrecognised MEN1 syndrome associated with breast cancer. Read More

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http://dx.doi.org/10.4183/aeb.2019.513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200108PMC

Health-related quality of life in patients with Multiple Endocrine Neoplasia type 1.

Neuroendocrinology 2020 May 4. Epub 2020 May 4.

Introduction: Multiple Endocrine Neoplasia type 1 (MEN1) is a hereditary endocrine tumor syndrome characterized by the triad of primary hyperparathyroidism (pHPT), duodenopancreatic neuroendocrine tumors (pNETs) and pituitary tumors. Patients are confronted with substantial morbidity and are consequently at risk for an impaired quality of life (QOL). Meticulous assessment of QOL and associated factors in a representative population is needed to understand the full spectrum of the burden of the disease. Read More

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http://dx.doi.org/10.1159/000508374DOI Listing

Surgery for multiple endocrine neoplasia type 1-related insulinoma: long-term outcomes in a large international cohort.

Br J Surg 2020 Apr 30. Epub 2020 Apr 30.

Department of Endocrine Surgical Oncology, Utrecht, the Netherlands.

Background: Insulinomas are found in 10-15 per cent of patients with multiple endocrine neoplasia type 1 (MEN1) and lead to life-threatening hypoglycaemia. Surgical outcome and the optimal surgical strategy for MEN1-related insulinoma are unknown.

Methods: Patients with MEN1-related insulinomas were identified in 46 centres in Europe and North America between 1990 and 2016. Read More

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http://dx.doi.org/10.1002/bjs.11632DOI Listing

Editorial: Early Genetic and Clinical Diagnosis in MEN1.

Front Endocrinol (Lausanne) 2020 15;11:218. Epub 2020 Apr 15.

Sector Endocrinology, Department of Internal Medicine, ENETS Centre of Excellence, Erasmus MC Cancer Institute, Erasmus MC - University Medical Center, Rotterdam, Netherlands.

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http://dx.doi.org/10.3389/fendo.2020.00218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174644PMC

Combined 68Ga-DOTATOC and 18F-FDG PET Predicts a Double Component With Different Grade of a Pancreatic Neuroendocrine Tumor in a Patient With Multiple Endocrine Neoplasia Type 1.

Clin Nucl Med 2020 Jun;45(6):e281-e282

From the Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University.

Managing decisions of pancreatic neuroendocrine tumors (pNETs) can be challenging because of different clinical presentations and prognosis. A 31-year-old woman with multiple endocrine neoplasia type 1, including a suspicious pNET, was assessed with Ga-DOTATOC and F-FDG PET. A high Ga-DOTATOC uptake was visualized in the entire pNET, whereas a high F-FDG PET uptake was present only in the upper part of the tumor. Read More

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http://dx.doi.org/10.1097/RLU.0000000000003020DOI Listing

Genetic background influences tumour development in heterozygous Men1 knockout mice.

Endocr Connect 2020 May;9(5):426-437

Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford, UK.

Multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder caused by MEN1 germline mutations, is characterised by parathyroid, pancreatic and pituitary tumours. MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP), a milder condition causing hyperparathyroidism only. Identical mutations can cause either MEN1 or FIHP in different families, thereby implicating a role for genetic modifiers in altering phenotypic expression of tumours. Read More

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http://dx.doi.org/10.1530/EC-20-0103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274560PMC

Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly.

J Clin Endocrinol Metab 2020 Jun;105(6)

Academic Endocrine Unit, OCDEM, Radcliffe Department of Medicine, University of Oxford, Churchill Hospital, Oxford, UK.

Context: Clinical multiple endocrine neoplasia type 1 (MEN-1) is diagnosed by the presence of at least 2 MEN-1-associated tumors. Many patients with acromegaly and clinical MEN-1 yield negative testing for MEN1 mutations. While cases of acromegaly and primary hyperparathyroidism (PHP) with negative genetic testing have been reported, its prevalence among patients with acromegaly is undetermined, and the clinical presentation has not been well characterized. Read More

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http://dx.doi.org/10.1210/clinem/dgaa142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7180000PMC

Expression of additional transcription factors is of prognostic value for aggressive behavior of pituitary adenomas.

J Neurosurg 2020 Apr 17:1-8. Epub 2020 Apr 17.

1Department of Neurosurgery.

Objective: According to the latest WHO classification of tumors of endocrine organs in 2017, plurihormonal adenomas are subclassified by their transcription factor (TF) expression. In the group of plurihormonal adenomas with unusual immunohistochemical combinations (PAWUC), the authors identified a large fraction of adenomas expressing TFs for gonadotroph adenoma (TFGA) cells in addition to other TFs. The aim of this study was to compare clinicopathological parameters of PAWUC with TFGA expression to gonadotroph adenomas that only express TFGA. Read More

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http://dx.doi.org/10.3171/2020.2.JNS2018DOI Listing

Clinical and Molecular Update on Genetic Causes of Pituitary Adenomas.

Horm Metab Res 2020 Apr 16. Epub 2020 Apr 16.

Department of Endocrinology, CHU de Liège, Liège Université, Liège, Belgium.

Pituitary adenomas are benign tumors with variable functional characteristics that can have a significant impact on patients. The majority arise sporadically, but an inherited genetic susceptibility is increasingly being recognized. Recent advances in genetics have widened the scope of our understanding of pituitary tumorigenesis. Read More

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http://dx.doi.org/10.1055/a-1143-5930DOI Listing

Identification of Novel Variants in MEN1: A Study Conducted with Four Multiple Endocrine Neoplasia Type 1 Patients.

Horm Metab Res 2020 Apr 16. Epub 2020 Apr 16.

Department of Endocrinology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited endocrine tumor syndrome caused by inactivating variants of the gene. The aim of this study is to explore the clinical and genetic characteristics of four MEN1 patients. We isolated genomic deoxyribonucleic acid from lymphocytes, parathyroid, and thymic tumoral tissue specimens from the MEN1 patients. Read More

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http://dx.doi.org/10.1055/a-1147-1375DOI Listing
April 2020
2.121 Impact Factor

[Clinical and genetic studies of a three-member familial isolated pituitary adenoma with homogeneous prolactinomas].

Medicina (B Aires) 2020 ;80(2):181-184

Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liege, Liege, Belgium. E-mail:

Most pituitary adenomas are sporadic, but 3-5% can occur in a family and hereditary context. This is the case of multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and familial isolated pituitary adenomas (FIPA). FIPA is an infrequent condition that occurs in a family context, not associated with MEN type1 or CNC. Read More

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Clinicopathological features and menin expression of pancreatic neuroendocrine neoplasm associated with multiple endocrine neoplasia type 1.

J Hepatobiliary Pancreat Sci 2020 Apr 11. Epub 2020 Apr 11.

Department of Gastroenterological Surgery, Graduate School of Life Sciences, Kumamoto University, Kumamoto, Japan.

Background/purpose: We examined therapeutic strategies for pancreatic neuroendocrine neoplasm (pNEN) associated with MEN1 (M-pNEN) by investigating clinicopathological features and menin expression.

Methods: Seventy-seven patients who underwent resection of pNEN at our department from January 2001 to December 2017 were retrospectively analyzed. Immunohistochemical analysis of menin was performed using resected specimens. Read More

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http://dx.doi.org/10.1002/jhbp.739DOI Listing

Bone Metabolism and Vitamin D Implication in Gastroenteropancreatic Neuroendocrine Tumors.

Nutrients 2020 Apr 8;12(4). Epub 2020 Apr 8.

Department of Clinical Medicine and Surgery, Federico II University, 80131 Naples, Italy.

Patients affected by gastroenteropancreatic-neuroendocrine tumors (GEP-NETs) have an increased risk of developing osteopenia and osteoporosis, as several factors impact on bone metabolism in these patients. In fact, besides the direct effect of bone metastasis, bone health can be affected by hormone hypersecretion (including serotonin, cortisol, and parathyroid hormone-related protein), specific microRNAs, nutritional status (which in turn could be affected by medical and surgical treatments), and vitamin D deficiency. In patients with multiple endocrine neoplasia type 1 (MEN1), a hereditary syndrome associated with NET occurrence, bone damage may carry other consequences. Read More

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http://dx.doi.org/10.3390/nu12041021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230756PMC

Pituitary adenomas in the setting of multiple endocrine neoplasia type 1: a single-institution experience.

J Neurosurg 2020 Apr 3:1-7. Epub 2020 Apr 3.

Departments of1Neurological Surgery.

Objective: Multiple endocrine neoplasia type 1 (MEN1) is a rare, autosomal-dominant tumor disorder characterized by the development of pituitary tumors and other endocrine neoplasms. Diagnosis is made clinically based on the development of 2 or more canonical lesions (parathyroid gland, anterior pituitary, and enteropancreatic tumors) or in family members of a patient with a clinical diagnosis of MEN1 and the occurrence of one of the MEN1-associated tumors. The goal of this study was to characterize pituitary tumors arising in the setting of MEN1 at a single institution. Read More

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http://dx.doi.org/10.3171/2020.1.JNS193538DOI Listing

Bilateral giant parathyroid adenoma in the absence of multiple endocrine neoplasia type 1.

Ann R Coll Surg Engl 2020 Jul 1;102(6):e111-e114. Epub 2020 Apr 1.

United Lincolnshire Hospitals NHS Trust, UK.

Introduction: Bilateral giant parathyroid adenoma in the absence of multiple endocrine neoplasia (MEN) type 1 is extremely rare and literature on this subject is limited.

Case History: A 79-year-old man presented with acute kidney injury secondary to hypercalcaemia. Blood test results indicated primary hyperparathyroidism. Read More

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http://dx.doi.org/10.1308/rcsann.2020.0043DOI Listing

Prognostic factors for the outcome of nonfunctioning pancreatic neuroendocrine tumors in MEN1: a systematic review of literature.

Endocr Relat Cancer 2020 Jun;27(6):R145-R161

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

Metastatic duodenopancreatic neuro-endocrine tumors (dpNETs) are the most important disease-related cause of death in patients with multiple endocrine neoplasia type 1 (MEN1). Nonfunctioning pNETs (NF-pNETs) are highly prevalent in MEN1 and clinically heterogeneous. Therefore, management is controversial. Read More

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http://dx.doi.org/10.1530/ERC-19-0372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304521PMC

Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both and Germline Mutations.

J Endocr Soc 2020 Apr 18;4(4):bvaa020. Epub 2020 Feb 18.

Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY.

The coexistence of multiple endocrine neoplasia type 1 (MEN1) and type 2A (MEN2A) is a rare occurrence and has been reported only twice in the literature. We present a patient with primary hyperparathyroidism and medullary thyroid cancer with strong family history of both MEN1- and MEN2A-associated conditions. Genetic testing showed the patient had a novel loss-of-function mutation, c0. Read More

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http://dx.doi.org/10.1210/jendso/bvaa020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067549PMC

18F-FDOPA PET/CT accurately identifies MEN1-associated pheochromocytoma.

Endocrinol Diabetes Metab Case Rep 2020 Mar 3;2020. Epub 2020 Mar 3.

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK).

Summary: Pheochromocytoma (PHEO) in multiple endocrine neoplasia type 1 (MEN1) is extremely rare. The incidence is reported as less than 2%. We report a case of a 76-year-old male with familial MEN1 who was found to have unilateral PHEO. Read More

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http://dx.doi.org/10.1530/EDM-19-0156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077596PMC

p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report.

BMC Neurol 2020 Mar 4;20(1):76. Epub 2020 Mar 4.

Department of Medical Oncology, Jinhua Hospital, Zhejiang University School of Medicine, 351 Mingyue Road, Jinhua, 321000, Zhejiang Province, China.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder arising from mutations of the MEN1 tumor suppressor gene on chromosome 11q13; MEN1 is characterized by the development of neuroendocrine tumors, including those of the parathyroid, gastrointestinal endocrine tissue and anterior pituitary. Additionally, thymic neuroendocrine tumors in MEN1 are also rarely reported.

Case Presentation: This case report observed a family that presented with MEN1 p. Read More

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http://dx.doi.org/10.1186/s12883-020-01659-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055077PMC

Triple tracer positivity in metastatic lymph nodes from well-differentiated neuroendocrine tumor in MEN 1 syndrome.

J Nucl Med Technol 2020 Feb 28. Epub 2020 Feb 28.

PGIMER, India.

Patients with multiple endocrine neoplasia type-1 (MEN-1) usually have combination of endocrine disorders due to lesions in pancreas, parathyroid and pituitary glands. Functional imaging using different tracers in addition to conventional imaging are employed in localizing the primary sites, disease extent and lesions characterization. Here is a diagnosed case of MEN-1 syndrome with interesting incidental imaging findings showing Tc-sestamibi and F-choline uptakes in addition to Ga-DOTANOC uptake in metastatic mediastinal and cervical lymph nodes arising from gastro-entro-pancreatic neuroendocrine tumor (GEP NET). Read More

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http://dx.doi.org/10.2967/jnmt.119.237339DOI Listing
February 2020

Gender Differences in Multiple Endocrine Neoplasia Type 1: Implications for Screening?

Visc Med 2020 Feb 24;36(1):3-9. Epub 2020 Jan 24.

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

Background: Some gender-related differences have been reported in multiple endocrine neoplasia type 1 (MEN1), although not all reports are conclusive. This systematic review with analysis of the own MEN1 cohort evaluates gender differences and potential consequences for screening.

Methods: A systematic review of the literature between 1990 and 2019 with the search terms "MEN1" or "multiple endocrine neoplasia type 1" and "gender" or "sex" was performed. Read More

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http://dx.doi.org/10.1159/000505498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7036590PMC
February 2020

Simultaneous resection of thymic and bronchial carcinoid tumors in a patient diagnosed with multiple endocrine neoplasia type 1.

Turk Gogus Kalp Damar Cerrahisi Derg 2019 Jul 21;27(3):407-410. Epub 2019 Jun 21.

Department of Thoracic Surgery, Hacettepe University Medical Faculty, Ankara, Turkey.

Thymic carcinoid tumors are rare tumors which may be associated with multiple endocrine neoplasia type 1. Bronchial carcinoids are also rare tumors and associated with multiple endocrine neoplasia type 1. Coexisting of thymic and bronchial carcinoid tumors in this case is extremely rare. Read More

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http://dx.doi.org/10.5606/tgkdc.dergisi.2019.17748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021414PMC

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: MEN1-related pancreatic NETs: identification of unmet clinical needs and future directives.

Endocr Relat Cancer 2020 Aug;27(8):T9-T25

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

The PanNET Working Group of the 16th International Multiple Endocrine Neoplasia Workshop (MEN2019) convened in Houston, TX, USA, 27-29 March 2019 to discuss key unmet clinical needs related to PanNET in the context of MEN1, with a special focus on non-functioning (nf)-PanNETs. The participants represented a broad range of medical scientists as well as representatives from patient organizations, pharmaceutical industry and research societies. In a case-based approach, participants addressed early detection, surveillance, prognostic factors and management of localized and advanced disease. Read More

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http://dx.doi.org/10.1530/ERC-19-0441DOI Listing

[Intraoperative measurement of parathyroid hormone in hyperparathyroidism].

Chirurg 2020 Jun;91(6):448-455

Klinik für Viszeral‑, Gefäß- und Endokrine Chirurgie, Universitätsklinikum Halle, Martin-Luther Universität Halle-Wittenberg, Ernst-Grube-Straße 40, 06120, Halle an der Saale, Deutschland.

Intraoperative parathyroid hormone (IOPTH) determination is based on the short half-life of parathyroid hormone (PTH) and the rapid analytical technology. The IOPTH provides functional information regarding correction of the overproductive state in hyperparathyroidism (HPT) and is superior to macroscopic evaluation of the parathyroid gland (PG) as well as any (intraoperative frozen section) form of histology (so-called biochemical frozen section). In this article the relevance and evaluation of IOPTH is defined for the most important forms of HPT, for primary HPT, renal secondary and tertiary HPT, multiple endocrine neoplasia type 1 (MEN1) and parathyroid carcinoma and clinical scenarios based on the currently available data. Read More

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http://dx.doi.org/10.1007/s00104-020-01123-9DOI Listing

[Inherited tumor syndromes of gastroenteropancreatic and thoracic neuroendocrine neoplasms].

Ann Pathol 2020 Apr 5;40(2):120-133. Epub 2020 Feb 5.

Département de biologie et pathologie médicales, institut Gustave-Roussy, 114, rue Edouard-Vaillant, 94805 Villejuif cedex, France. Electronic address:

About 5% of gastroenteropancreatic and thoracic neuroendocrine neoplasms (NENs) arise in the context of an inherited tumour syndrome. The two most frequent syndromes are: multiple endocrine neoplasia type 1 (MEN1), associated with a large spectrum of endocrine and non endocrine tumours, including duodenopancreatic, thymic and bronchial NENs, and the von Hippel-Lindau syndrome VHL, associated with pancreatic NENs. Two inherited syndromes have a low incidence of NENs: neurofibromatosis type 1 (NF1), associated with duodenal somatostatinomas, and tuberous sclerosis (TSC), associated with pancreatic NENs. Read More

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http://dx.doi.org/10.1016/j.annpat.2020.01.002DOI Listing

Comparison of 68Ga-Dotatate PET/CT and 18F-FDOPA PET/CT for the diagnosis of pancreatic neuroendocrine tumors in a MEN1 patient.

Ann Endocrinol (Paris) 2020 Feb 16;81(1):39-43. Epub 2019 Dec 16.

Inserm U1251, service d'endocrinologie, Marseille Medical Genetics, Hôpital de la Conception, Aix-Marseille Université, AP-HM, Marseille, France. Electronic address:

Context: Pancreatic neuroendocrine tumors (PNETs) occur in more than 80% of patients with multiple endocrine neoplasia type 1 (MEN1) syndrome, with predominance of small (<1cm) non-functioning tumors, followed by gastrinomas and insulinomas. Due to their small size, the diagnostic performance of conventional MRI and CT imaging is highly variable, with a real risk of false-negatives. Functional imaging on 111In-DTPA-Octreotide SPECT somatostatin receptor scintigraphy (Octreoscan®) is the modality of choice, but shows only 80% sensitivity. Read More

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http://dx.doi.org/10.1016/j.ando.2019.11.001DOI Listing
February 2020

CO-EXISTENCE OF PRIMARY HYPERPARATHYROIDISM DUE TO MULTIPLE ENDOCRINE NEOPLASIA 1 IN A HYPERCALCEMIC PATIENT WITH GRAVES DISEASE.

AACE Clin Case Rep 2019 Jan-Feb;5(1):e13-e15. Epub 2019 Jan 30.

Objective: Hypercalcemia in a patient with Graves disease can occur in up to 22% of cases. The mechanism is thought to be increased bone resorption. There are more rare causes of hypercalcemia in these patients with hyperthyroidism, such as hyperparathyroidism, which occurs in less than 1% of patients. Read More

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http://dx.doi.org/10.4158/ACCR-2018-0217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876967PMC
January 2019

Proton Pump Inhibitor Use, Hypergastrinemia, and Gastric Carcinoids-What Is the Relationship?

Authors:
Denis M McCarthy

Int J Mol Sci 2020 Jan 19;21(2). Epub 2020 Jan 19.

Departments of Medicine & Biochemistry, Division of Gastroenterology and Hepatology, University of New Mexico School of Medicine and Raymond G. Murphy Veterans Administration Medical Center, 1501 San Pedro Blvd. SE, Albuquerque, NM 87108, USA.

Neuroendocrine tumors (NETs) throughout the body are the focus of much current interest. Most occur in the gastrointestinal tract and have shown a major increase in incidence over the past 30 years, roughly paralleling the world-wide increase in the use of proton pump inhibitor (PPI) drugs. The greatest rise has occurred in gastric carcinoids (g-NETs) arising from enterochromaffin-like (ECL) cells. Read More

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http://dx.doi.org/10.3390/ijms21020662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014182PMC
January 2020

The Relationship of Gastrinoma in MEN 1 to Helicobacter pylori infection.

J Clin Endocrinol Metab 2020 Mar;105(3)

Department of Diabetes and Endocrinology, Royal Hobart Hospital.

Context: Helicobacter pylori and Multiple Endocrine Neoplasia Type 1 (MEN 1) are risk factors for hypergastrinemia. Gastrin-secreting neoplasms of the foregut mucosa are both a source of, and potentially stimulated by, hypergastrinemia.

Objective: To determine the relationship between H pylori exposure and the prevalence and severity of hypergastrinemia in patients with MEN 1. Read More

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http://dx.doi.org/10.1210/clinem/dgaa004DOI Listing

Occult insulinoma, glucagonoma and pancreatic endocrine pseudotumour in a patient with multiple endocrine neoplasia type 1.

Pancreatology 2020 03 24;20(2):293-296. Epub 2019 Dec 24.

Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark; Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Denmark; OPAC, Odense Pancreas Centre, Odense University Hospital, Odense, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.pan.2019.12.017DOI Listing

The Genetics of Pituitary Adenomas.

J Clin Med 2019 Dec 21;9(1). Epub 2019 Dec 21.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD 20892, USA.

The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a small percentage of all patients and may present in the context of relevant family history. Defects in (mutated in Familial Isolated Pituitary Adenoma syndrome or FIPA), (coding for , mutated in Multiple Endocrine Neoplasia type 1 or MEN 1), (mutated in Carney complex), (involved in X-Linked Acrogigantism or X-LAG), and (mutated in the so called "3 P association" of PAs with pheochromocytomas and paragangliomas or 3PAs) account for the most common familial syndromes associated with PAs. Read More

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http://dx.doi.org/10.3390/jcm9010030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019860PMC
December 2019

Gastrinoma in multiple endocrine neoplasia type 1 after total pancreatectomy: A case report.

Medicine (Baltimore) 2019 Dec;98(50):e18275

Outpatient Department, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.

Rationale: Surgery for patients with multiple endocrine neoplasia type 1(MEN-1) related gastrinoma remains controversial and total pancreatectomy (TP) has rarely been performed. We reported a case of patient with MEN-1 related gastrinoma treated by TP.

Patient Concerns: A 46-year-old female was admitted to our hospital due to abdominal distension and diarrhea for 2 years. Read More

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http://dx.doi.org/10.1097/MD.0000000000018275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922403PMC
December 2019

Atypical Thymic Carcinoid in a Patient with Zollinger-Ellison Syndrome.

Korean J Thorac Cardiovasc Surg 2019 Dec 5;52(6):420-424. Epub 2019 Dec 5.

Department of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Atypical thymic carcinoid is an extremely rare tumor with a poor prognosis. In addition to its known association with multiple endocrine neoplasia type 1, its hallmark characteristics include local invasion and early distant metastasis. In this report, we share our experience treating atypical thymic carcinoid in a patient with Zollinger-Ellison syndrome. Read More

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http://dx.doi.org/10.5090/kjtcs.2019.52.6.420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901190PMC
December 2019

[Gastric neuroendocrine tumors].

Khirurgiia (Mosk) 2019 (12):111-120

Department of Surgery, Hospital of the University of Pennsylvania, Philadelphia PA, USA.

Gastrointestinal neuroendocrine tumors are rare neoplasms. Currently, incidence of gastric neuroendocrine tumors (gNETs) is being significantly increased. There are 3 groups of gNETs: types I, II and III. Read More

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http://dx.doi.org/10.17116/hirurgia2019121111DOI Listing
December 2019

Case report: optimal tumor cytoreduction and octreotide with durable disease control in a patient with MEN-1 and Zollinger-Ellison syndrome-over a decade of follow-up.

World J Surg Oncol 2019 Dec 9;17(1):213. Epub 2019 Dec 9.

Department of Surgery, Drexel University College of Medicine, 245 N. 15th Street, Suite 7150, Philadelphia, PA, 19102, USA.

Background: Zollinger-Ellison syndrome (ZES) is a rare condition characterized by hypersecretion of gastrin by gastrinoma tumors leading to severe peptic ulcer disease with potential development of gastric carcinoid tumors. Herein, we report the clinical course of a 68-year-old patient with multiple endocrine neoplasia type 1 (MEN-1) who underwent several surgeries to ultimately undergo optimal tumor cytoreduction of locally advanced gastrinomas and symptomatic gastric carcinoids. The patient was subsequently maintained on octreotide long-acting release (LAR). Read More

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http://dx.doi.org/10.1186/s12957-019-1758-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902565PMC
December 2019