ArticleEuropean journal of human genetics : EJHG2014
A MEN1 syndrome with a paraganglioma.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
- A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.Neuroendocrinology · 2025Article
- Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.Endocrinology and metabolism (Seoul, Korea) · 2024Article
- Non-Susceptibility Gene Variants in Head and Neck Paragangliomas.International journal of molecular sciences · 2024Article
- Non-Functional Yet Terminal: A Case of Asymptomatic Retroperitoneal Paraganglioma With Distant Metastasis.Cureus · 2023Article
- Malignant prediction in paragangliomas: analysis for clinical risk factors.Langenbeck's archives of surgery · 2021Article
- 18F-FDOPA PET/CT accurately identifies MEN1-associated pheochromocytoma.Endocrinology, diabetes & metabolism case reports · 2020Article
- Coexistence of DIPNECH and carotid body paraganglioma: is it just a coincidence?Endocrinology, diabetes & metabolism case reports · 2020Article
- The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2019Review
- An update on adrenal endocrinology: significant discoveries in the last 10 years and where the field is heading in the next decade.Hormones (Athens, Greece) · 2018Review
- Exome analysis of carotid body tumor.BMC medical genomics · 2018Article
- Molecular markers of paragangliomas/pheochromocytomas.Oncotarget · 2017Review
- Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Paragangliomas.Head and neck pathology · 2017Article
- Challenging Differential Diagnosis of Hypergastremia and Hyperglucagonemia with Chronic Renal Failure: Report of a Case with Multiple Endocrine Neoplasia Type 1.Internal medicine (Tokyo, Japan) · 2017Article
- Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.Virchows Archiv : an international journal of pathology · 2015Article
- Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.The Journal of clinical endocrinology and metabolism · 2015Article
- Primary pancreatic paraganglioma: a report of two cases and literature review.World journal of gastroenterology · 2015Review
- Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.The Journal of clinical endocrinology and metabolism · 2014Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations of the MEN1 gene cause multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder characterized by tumors of the parathyroids, the pancreas, and the anterior pituitary. Paraganglioma (PGL) is a rare endocrine tumor, which can be sporadic or genetically determined. To date, PGL has never been reported as a feature of MEN1.We report here a patient presenting three features of MEN1 syndrome (hyperparathyroidism, pancreatic neuroendocrine tumor, and adrenocortical adenoma) associated with PGL. Genetic analysis of MEN1 gene revealed a new missense mutation in exon 5 (AGGAAG), causing the substitution of arginine by lysine at codon 275. Screening for other genetic disorders (SDHx, TMEM127, MAX, CDKN1B) causing PGL was negative. Immunohistochemical analyses showed normal levels of succinate dehydrogenase (SDH)A and SDHB in the PGL. The proband's sister, bearing the mutation, had primary hyperparathyroidism. It was the first typical MEN1 syndrome reported with an extra-adrenal PGL.
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