Multiple Endocrine Neoplasia

Norton, Jeffrey A.; Krampitz, Geoffrey W.; Jensen, Robert T.

doi:10.1016/j.soc.2015.06.008

Cited by 69 publications

(50 citation statements)

References 223 publications

(387 reference statements)

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“…The problem with using cytology/biopsy with these patients is that the gastrinomas are frequently small, usually duodenal in location and not seen on EUS or other conventional imagine modalities [5, 8, 151–153]. Furthermore, pancreatic gastrinomas occur in up to 15% of MEN1/ZES patients [8] and must be distinguished from the pancreatic NF-pNETs, which are generally present as well [8, 34]. Another approach recently used in the literature to attempt to establish the diagnosis of ZES without assessing gastric acidity, is to use of the secretin test.…”

Section: Discussion and Proposal Of New Criteria To Support Thementioning

confidence: 99%

“…Currently, routine surgical exploration in MEN1/ZES patients with small pNETs (i.e. <2–2.5 cm) is not recommended in any guidelines, although it is recommended in MEN1/ZES patients with larger tumors [15, 33, 34, 36]. In patients with MEN1/ZES with small duodenal gastrinomas(<2–2.5cm) not undergoing surgery, it is recommended that they be followed closely and undergo repeat imaging at least yearly.…”

Section: Relevant Backgroundmentioning

confidence: 99%

See 1 more Smart Citation

Diagnosis of Zollinger–Ellison Syndrome in the Era of Ppis, Faulty Gastrin Assays, Sensitive Imaging and Limited Access to Acid Secretory Testing

Metz

Cadiot

Poitras

et al. 2017

Int. J. Endo. Oncol.

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In recent years the diagnosis of Zollinger-Ellison syndrome (ZES) has become increasingly controversial with several new approaches and criteria proposed, differing from the classical biochemical criterion of inappropriate hypergastrinemia (i.e., hypergastrinemia in the presence of hyperchlorhydria) (Table 1). These changes have come about because of the difficulty and potential dangers of stopping proton pump inhibitors (PPIs) for gastric acid analysis; the recognition than many of the current assays used to assess gastrin concentrations are unreliable; the development of sensitive imaging modalities that detect neuroendocrine tumors (NETs) including an increasing number of the primary gastrinomas; the increased use of percutaneous or endoscopic ultrasound (EUS)-directed biopsies/cytology and the general lack of availability of acid secretory testing. In this article we will discuss the basis for these controversies, review the proposed changes in diagnostic approaches and make recommendations for supporting the diagnosis of ZES in the modern era.

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Section: Discussion and Proposal Of New Criteria To Support Thementioning

confidence: 99%

Section: Relevant Backgroundmentioning

confidence: 99%

Diagnosis of Zollinger–Ellison Syndrome in the Era of Ppis, Faulty Gastrin Assays, Sensitive Imaging and Limited Access to Acid Secretory Testing

Metz

Cadiot

Poitras

et al. 2017

Int. J. Endo. Oncol.

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“…Surgery to correct PHPT and hypercalcemia is fundamental in MEN1 patients with Zollinger-Ellison syndrome (ZES), since the restoring of normal calcium level contributes to reduce gastric acid output, ameliorating the clinical findings of ZES and reducing the risk of peptic ulcers. Type of operation for parathyroid surgery in MEN1 patients is still controversial: Some authors suggest minimal invasive surgery with ablation of only the enlarged glands, others suggest subtotal removal of 3.5 glands, and some others total parathyroidectomy with heterotopic auto-transplantation of fresh or cryopreserved normal parathyroid tissue into the brachioradialis muscle of the non-dominant forearm (Norton et al 2015b). Partial and subtotal parathyroidectomy have both high probability of recurrences (i.e 40-60% within 10-12 years after surgery), and patients have to be annually monitored for this possibility; conversely, re-inplant after total parathyroidectomy presents a high incidence of graft failure and subsequent permanent hypoparathyroidism.…”

Section: Parathyroid Adenomasmentioning

confidence: 99%

“…In MEN1, these tumors are associated with ZES and peptic ulcers and present a high rate of liver metastases (1030%) (Norton et al 2015b). Early diagnosis is made by annual regular EUS of the stomach in MEN1 patients and MEN1 carriers.…”

Section: Thymic Bronchopulmonary and Gastric Carcinoidsmentioning

confidence: 99%

Management impact: effects on quality of life and prognosis in MEN1

Marini¹,

Giusti²,

Tonelli³

et al. 2017

Endocrine-Related Cancer

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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine tissues. As the positional cloning and identification of the causative gene in 1997, genetic diagnosis, by the sequencing-based research of gene mutations, has become an important tool in the early and differential diagnosis of the disease. Application of the genetic test, in MEN1 index cases and in first-degree relatives of mutated patients, has been constantly increasing during the last two decades, also thanks to the establishment of multidisciplinary referral centers and specific genetic counseling, and thanks to the wide availability of high throughput instruments for gene sequencing and gene mutation identification. The MEN1 genetic test helps the specific diagnosis of probands, and allows the early identification of asymptomatic carriers, strongly contributing, together with progressions in tumor diagnostic techniques and in pharmacological and surgical therapeutic approaches, to the reduction of morbidity and mortality associated with the syndrome. International clinical guidelines for MEN1 have been drafted by panels of specialists in the field, with the main goal to improve the management of the disease and grant patients a better quality of life. Here, we review main recommendations and suggestions derived by the last published general guidelines in 2012, and by most recent published studies about MEN1 syndrome diagnosis, clinical management, therapeutic approaches and patients' quality of life.

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“…MEN1 syndrome penetrance and expressivity are variable, even among patients from the same family tree. The most common manifestation (~100% penetrance by age 50) is primary hyperparathyroidism (HPT), followed by the development of anterior pituitary adenomas (~10%– 60% penetrance) 2 . Pancreatic neuroendocrine tumors (PNETs), thymic or bronchial carcinoid tumors, and adrenocortical tumors account for a significant remainder of the morbidity and mortality seen in MEN1 syndrome 3 .…”

Section: Introductionmentioning

confidence: 99%

A Review of the Scaffold Protein Menin and its Role in Hepatobiliary Pathology

Ehrlich

Hall²,

Meng³

et al. 2017

gene expr

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Multiple endocrine neoplasia type 1 (MEN1) is a familial cancer syndrome with neuroendocrine tumorigenesis of the parathyroid glands, pituitary gland, and pancreatic islet cells. The MEN1 gene codes for the canonical tumor suppressor protein, menin. Its protein structure has recently been crystallized, and it has been investigated in a multitude of other tissues. In this review, we summarize recent advancements in understanding the structure of the menin protein and its function as a scaffold protein in histone modification and epigenetic gene regulation. Furthermore, we explore its role in hepatobiliary autoimmune diseases, cancers, and metabolic diseases. In particular, we discuss how menin expression and function are regulated by extracellular signaling factors and nuclear receptor activation in various hepatic cell types. How the many signaling pathways and tissue types affect menin’s diverse functions is not fully understood. We show that small-molecule inhibitors affecting menin function can shed light on menin’s broad role in pathophysiology and elucidate distinct menin-dependent processes. This review reveals menin’s often dichotomous function through analysis of its role in multiple disease processes and could potentially lead to novel small-molecule therapies in the treatment of cholangiocarcinoma or biliary autoimmune diseases.

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Multiple Endocrine Neoplasia

Cited by 69 publications

References 223 publications

Diagnosis of Zollinger–Ellison Syndrome in the Era of Ppis, Faulty Gastrin Assays, Sensitive Imaging and Limited Access to Acid Secretory Testing

Diagnosis of Zollinger–Ellison Syndrome in the Era of Ppis, Faulty Gastrin Assays, Sensitive Imaging and Limited Access to Acid Secretory Testing

Management impact: effects on quality of life and prognosis in MEN1

A Review of the Scaffold Protein Menin and its Role in Hepatobiliary Pathology

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