Evidence map›Paper›PMID 39552147›Full record

ArticleEndocrinology and metabolism (Seoul, Korea)2024

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Boram Kim, Seung Hun Lee, Chang Ho Ahn, Han Na Jang, Sung Im Cho, Jee-Soo Lee, Yu-Mi Lee, Su-Jin Kim, Tae-Yon Sung, Kyu Eun Lee and 4 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Endocrinology and metabolism (Seoul, Korea), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Boram KimDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Seung Hun LeeDivision of Endocrinology and Metabolism, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Chang Ho AhnDepartment of Internal Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
Han Na JangDivision of Endocrinology and Metabolism, Department of Internal Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
Sung Im ChoDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Jee-Soo LeeDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Yu-Mi LeeDepartment of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Su-Jin KimDepartment of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Tae-Yon SungDepartment of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Kyu Eun LeeDepartment of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Woochang LeeDepartment of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Jung-Min KohDivision of Endocrinology and Metabolism, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Moon-Woo SeongDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Jung Hee KimDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Funding

Ministry of Health and Welfare HI21C0032Ministry of Health and Welfare HI22C0049Ministry of Science, ICT and Future PlanningNational Research Foundation of Korea 2020R1C1-C1010723NIEHS NIH HHS 27300C0032
6 · The paper itself

Abstract

backgruoundMultiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.

methodsThis multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.

resultsA total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).

conclusionThe association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.

Indexed as

Multiple Endocrine Neoplasia Type 1Neuroendocrine TumorsAdultFemaleGenetic TestingHumansIntestinal NeoplasmsMaleMiddle AgedMutationPancreatic NeoplasmsPituitary NeoplasmsProto-Oncogene ProteinsRepublic of KoreaRetrospective StudiesStomach NeoplasmsMEN1 protein, humanProto-Oncogene ProteinsGenotypeKoreaMulticenterMultiple endocrine neoplasiaMultiple endocrine neoplasia type 1PhenotypeVariant

Identifiers

PMID39552147
PMCPMC11695471

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.