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Rare Mendelian cancer syndromes and other cancers
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The main clinical features of multiple endocrine neoplasia type 1 (MEN1) are tumours of the parathyroid glands, pituitary gland and pancreas, which are usually not malignant. The symptoms of the condition tend to arise as a consequence of overproduction of hormones, for example, hyperparathyroidism. Once an index case has been recognised, and the pathogenic variant identified in the MEN1 gene, family members at risk can be tested to identify those affected. Screening for complications starts in childhood (often between 5 and 7 years) and should be coordinated by a paediatric endocrinologist with seamless transfer later to adult services. Inheritance is autosomal dominant (see also Chapter 25).
Management of Persistent and Recurrent Hyperparathyroidism
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
Recurrent disease is very rare. In the Uppsala series it accounted for only 13 cases over 20 years. Most patients had hyperplasia and nearly all of them (89%) were diagnosed to have multiple endocrine neoplasia type 1 (MEN 1). Sporadic adenoma as a cause of recurrent disease was exceptionally rare in this series. Of the four cases, one had seeding at the time of the first operation, one recurred at 2 years after a partial resection and only two true second adenomas presented at 8 and 16 years after the first parathyroidectomy.
Endocrine system
Published in Aida Lai, Essential Concepts in Anatomy and Pathology for Undergraduate Revision, 2018
= inherited predisposition to develop multiple endocrine tumours (autosomal dominant condition) Multiple endocrine neoplasia type 1 (MEN 1) – tumours in parathyroid gland, pancreas and anterior pituitary gland– usually multiple tumours in pancreasMultiple endocrine neoplasia type 2 (MEN 2) – tumours in thyroid (medullary carcinoma), phaeochromocytoma, parathyroid (2A only) and neurofibroma (2B only)
Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies
Published in Expert Review of Neurotherapeutics, 2021
Zimeng Ye, Mark F. Bennett, Melanie Bahlo, Ingrid E. Scheffer, Samuel F. Berkovic, Piero Perucca, Michael S. Hildebrand
Genetic analysis of the paired PNH- and blood-derived DNA samples failed to detect any variants in known familial or sporadic PNH genes but did reveal a mosaic MEN1 duplication (c.1546dupC) variant predicted to lead to frameshift (p.R615PfsX15) in 16.7% of sequenced reads in PNH DNA. The presence of this variant in PNH DNA, and its absence from blood, was confirmed independently by Sanger sequencing. This variant had been reported at high frequency as a germline heterozygous change in patients with multiple endocrine neoplasia type 1 (MEN1) syndrome with in vitro functional studies confirming that it impairs nuclear localization [62]. Germline mutations in MEN1 are well known to cause MEN1 syndrome and double-hit mutations (a constitutional germline mutation with a second somatic mutation) in MEN1 can cause MEN1 syndrome-related tumors such as ependymoma, lipoma, and parathyroid tumor [63,64]. However, this gene is not related to PNH. It is possible that constitutional mutation or double-hit mutations in MEN1 can cause MEN1 syndrome, while mosaicism may lead to other phenotypes (e.g. PNH) through mechanisms like cellular interference between cell populations with and without mutations, already established for some X-linked disorders [65–67].
An unusual presentation of insulinoma and the serious consequences of delayed diagnosis
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2020
Insulinomas are rare functioning neuroendocrine tumours. They occur in 1–4 per million per year.2 They are the most common class of neuroendocrine tumours. They occur more commonly in females, with an average age at presentation of 50 years.3 Insulinomas are commonly sporadic in nature. Less than 10% are genetic in origin, associated with multiple endocrine neoplasia type 1 (MEN-1).3 MEN-1 is an autosomal-dominant syndrome affecting mainly the parathyroid glands, anterior pituitary, endocrine pancreas and duodenum, due to inactivation of the MEN1 gene on chromosome 11q13. Of the patients with insulinoma associated with MEN1, the presentation is earlier and female predominant 2. The majority of patients with insulinomas present with hypoglycaemia in the fasting state although it can also occur in the post-prandial state.3
Arterial calcium stimulation with hepatic venous sampling predicts the localization and size of the insulinoma as well as postoperative weight loss
Published in Scandinavian Journal of Gastroenterology, 2018
Maja Baretić, Dražen Perkov, Petra Vuica, Antonia Jakovčević, Mato Škegro
Data from 11 patients (5 males, 6 females) who were diagnosed at the Department of Endocrinology, Internal Medicine Clinic, University Hospital Centre Zagreb, Croatia between 2007 and 2017 followed up for at least 6 months were retrospectively analyzed. Although noninvasive localization techniques (endoscopic US, CT, and MRI) were inconclusive, a diagnosis of endogenous hyperinsulinism was established in these patients. In some cases, there was a biochemically proven endogenous hyperinsulinism with indeterminate anatomy. In other cases, different localization techniques indicated different tumor sites. One patient exhibited tumor recurrence and was diagnosed with multiple endocrine neoplasia type 1. This patient was excluded from the analysis along with another patient who rejected surgery and was later treated with diazoxide.