Multiple Endocrine Neoplasia Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Updates on the genetics of multiple endocrine neoplasia
Ann Endocrinol (Paris). 2024 Feb 5:S0003-4266(24)00010-6. doi: 10.1016/j.ando.2023.11.005. Online ahead of print.ABSTRACTMultiple endocrine neoplasia (MEN) is a group of syndromes with a genetic predisposition to the appearance of endocrine tumors, and shows autosomal dominant transmission. The advent of molecular genetics has led to improvements in the management of MEN in terms of diagnosis, prognosis and therapy. The genetics of MEN is the subject of regular updates, which will be presented throughout this paper. MEN1, the first to be described, is associated with the MEN1 gene. MEN1 is well known in terms of the observ...
Source: Annales d'Endocrinologie - February 7, 2024 Category: Endocrinology Authors: Nicolas Sahakian Frederic Castinetti Pauline Romanet Yves Reznik Thierry Brue Source Type: research

Microwave ablation for recurrent primary hyperparathyroidism in four patients with multiple endocrine neoplasia type 1: a case series report
Int J Hyperthermia. 2024;41(1):2308056. doi: 10.1080/02656736.2024.2308056. Epub 2024 Feb 5.ABSTRACTMultiple endocrine neoplasia type 1 (MEN1), a rare tumor syndrome, is inherited in an autosomal dominant pattern, mainly manifested as primary hyperparathyroidism (PHPT). Surgery is preferred for patients with MEN1 and PHPT. Thermal ablation has been widely applied for PHPT but rarely for postoperative recurrent PHPT in MEN1 patients. Based on a series of cases, we aimed to investigate the clinical efficacy and safety of ultrasound-guided percutaneous microwave ablation in the treatment of MEN1 patients with postoperative re...
Source: International Journal of Hyperthermia - February 5, 2024 Category: Internal Medicine Authors: Jie Tan Yuzhi Zhang Xue Han Yaofu Fan Juan Xu Guofang Chen Chao Liu Shuhang Xu Source Type: research

Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia
Histol Histopathol. 2024 Jan 12:18709. doi: 10.14670/HH-18-709. Online ahead of print.ABSTRACTHyperinsulinemic hypoglycemia (HH) of pancreatic origin includes congenital hyperinsulinism (CHI), insulinoma, insulinomatosis, and adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia syndrome (NI-PHHS). In this review, we describe the genotype-histotype-phenotype correlations in HH and their therapeutic implications. CHI can occur from birth or later on in life. Histologically, diffuse CHI shows diffuse beta cell hypertrophy with a few giant nuclei per islet of Langerhans, most frequently caused by loss-of-functio...
Source: Histology and Histopathology - February 2, 2024 Category: Cytology Authors: Annette R ønholt Larsen Klaus Brusgaard Henrik Thybo Christesen S önke Detlefsen Source Type: research

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas
ConclusionOur findings confirm the need for careful genetic analysis of patients with MEN1 and establish a likely pathogenic role for the new p.(Cys235Arg) variant, at least in the rare subset of MEN1 associated with glucagonomas. (Source: Journal of Endocrinological Investigation)
Source: Journal of Endocrinological Investigation - January 31, 2024 Category: Endocrinology Source Type: research

Beyond MEN1, when to think about MEN4? Retrospective study on 5600 patients in the French population & amp; literature review
CONCLUSION: The prevalence of MEN4 is low. PHPT and PA represent the main associated lesions, NETs are rare. Our results suggest a milder and later phenotype than in MEN1. Our observations will help to improve genetic counseling and management of MEN4 families.PMID:38288531 | DOI:10.1210/clinem/dgae055 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - January 30, 2024 Category: Endocrinology Authors: Benjamin Chevalier Lucie Coppin Pauline Romanet Thomas Cuny Jean-Christophe Maiza Juliette Abeillon Julien Forestier Thomas Walter Olivier Gilly Ma ëlle Le Bras Sarra Smati Marie Laure Nunes Aurore Geslot Solange Grunenwald C éline Mouly Gwenaelle Arnau Source Type: research

Diagnostic and Surgical Challenges Associated With Sporadic Multiple Endocrine Neoplasia 2A Presenting as Non-syndromic Primary Hyperparathyroidism
Am Surg. 2024 Jan 29:31348241229629. doi: 10.1177/00031348241229629. Online ahead of print.NO ABSTRACTPMID:38284346 | DOI:10.1177/00031348241229629 (Source: The American Surgeon)
Source: The American Surgeon - January 29, 2024 Category: Surgery Authors: Jaclyn Jones Gary N Mann Anita Chaudhuri Vicente Ramos-Santillan Source Type: research

Cancers, Vol. 16, Pages 494: Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict?
This study supports the current recommendation regarding the pathogenic variant-dependent management of this rare cancer-associated syndrome. (Source: Cancers)
Source: Cancers - January 24, 2024 Category: Cancer & Oncology Authors: Teresa Binter Sabina Baumgartner-Parzer Marie Helene Schernthaner-Reiter Melisa Arikan Lindsay Hargitai Martin Bruno Niederle Bruno Niederle Christian Scheuba Philipp Riss Tags: Article Source Type: research

Syndromic MEN1 parathyroid adenomas consist of both subclonal nodules and clonally independent tumors
AbstractPrimary hyperparathyroidism with parathyroid tumors is a typical manifestation of Multiple Endocrine Neoplasia Type 1 (MEN1) and is historically termed “primary hyperplasia”. Whether these tumors represent a multi-glandular clonal disease or hyperplasia has not been robustly proven so far. Loss of Menin protein expression is associated with inactivation of both alleles and a good surrogate for aMEN1 gene mutation. Thecyclin-dependent kinase inhibitor 1B (CDKN1B) gene is mutated in MEN4 and encodes for protein p27 whose expression is poorly studied in the syndromic MEN1 setting.Here, we analyzed histomorphology ...
Source: Virchows Archiv - January 20, 2024 Category: Pathology Source Type: research

Multiple endocrine neoplasia type 1 syndrome in women with hypoglycemia as the initial symptom: A case report
Asian J Surg. 2024 Jan 8:S1015-9584(23)02112-7. doi: 10.1016/j.asjsur.2023.12.146. Online ahead of print.NO ABSTRACTPMID:38191280 | DOI:10.1016/j.asjsur.2023.12.146 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - January 8, 2024 Category: Surgery Authors: Hang Su Pengcheng Li Fenghua Zhang Source Type: research

Pancreatic Neuroendocrine Tumor in a Patient With Multiple Endocrine Neoplasia Type 4
A man in his 50s, with a history of elevated prolactin and primary hyperparathyroidism, was found to have a pancreatic lesion. He underwent a distal pancreatectomy, and histopathologic evaluation revealed a grade 2, well-differentiated neuroendocrine tumor forming a 3.5-cm mass (Figure 1). (Source: Mayo Clinic Proceedings)
Source: Mayo Clinic Proceedings - January 1, 2024 Category: Internal Medicine Authors: Sounak Gupta, Rumeal D. Whaley, Lori A. Erickson Tags: Path to patient image quiz Source Type: research

The risk of concurrent malignancies in patients with multiple endocrine neoplasia type 1: insights into clinical characteristics of those with multiple endocrine neoplasia type 1
ConclusionOur retrospective study revealed a higher incidence of non-MEN-1 component malignant tumors in MEN-1 patients, especially breast cancer, PTC, and urologic neoplasms. These patients also exhibit more severe clinical phenotypes of MEN-1. (Source: Journal of Endocrinological Investigation)
Source: Journal of Endocrinological Investigation - December 31, 2023 Category: Endocrinology Source Type: research

Comparing Nodal with Primary Tumor Desmoplasia Uncovers Metastatic Patterns in MEN 2B
Eur J Endocrinol. 2023 Dec 26:lvad177. doi: 10.1093/ejendo/lvad177. Online ahead of print.ABSTRACTWhile primary tumor desmoplasia is a powerful biomarker of node metastases in sporadic medullary thyroid cancer (MTC), information for hereditary MTC is sparse. This proof-of-concept study, comprising three consecutive children with multiple endocrine neoplasia 2B, evaluated simultaneously the metastatic behavior of multiple primary thyroid tumors of disparate size and extent of desmoplasia within patients. Altogether, MTC typically involved the ipsilateral central neck before spreading to the ipsilateral lateral and the contr...
Source: European Journal of Endocrinology - December 26, 2023 Category: Endocrinology Authors: Andreas Machens Claudia Bensch Claudia Wickenhauser Henning Dralle Kerstin Lorenz Source Type: research