Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis
Background Multiple 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 an...
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Korean Endocrine Society
2024-12-01
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| Series: | Endocrinology and Metabolism |
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| Online Access: | http://www.e-enm.org/upload/pdf/enm-2024-2008.pdf |
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| author | 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 Woochang Lee Jung-Min Koh Moon-Woo Seong Jung Hee Kim |
| author_facet | 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 Woochang Lee Jung-Min Koh Moon-Woo Seong Jung Hee Kim |
| author_sort | Boram Kim |
| collection | DOAJ |
| description | Background Multiple 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. Methods This 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. Results A 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). Conclusion The 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. |
| format | Article |
| id | doaj-art-ad43169559dc4861a1f5f7ca6ee23712 |
| institution | Kabale University |
| issn | 2093-596X 2093-5978 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Korean Endocrine Society |
| record_format | Article |
| series | Endocrinology and Metabolism |
| spelling | doaj-art-ad43169559dc4861a1f5f7ca6ee237122025-01-03T05:15:26ZengKorean Endocrine SocietyEndocrinology and Metabolism2093-596X2093-59782024-12-0139695696410.3803/EnM.2024.20082550Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective AnalysisBoram Kim0Seung Hun Lee1Chang Ho Ahn2Han Na Jang3Sung Im Cho4Jee-Soo Lee5Yu-Mi Lee6Su-Jin Kim7Tae-Yon Sung8Kyu Eun Lee9Woochang Lee10Jung-Min Koh11Moon-Woo Seong12Jung Hee Kim13 Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Division of Endocrinology and Metabolism, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Department of Internal Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea Division of Endocrinology and Metabolism, Department of Internal Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Department of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Department of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Division of Endocrinology and Metabolism, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, KoreaBackground Multiple 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. Methods This 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. Results A 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). Conclusion The 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.http://www.e-enm.org/upload/pdf/enm-2024-2008.pdfmultiple endocrine neoplasiamultiple endocrine neoplasia type 1genotypephenotypevariantmulticenterkorea |
| spellingShingle | 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 Woochang Lee Jung-Min Koh Moon-Woo Seong Jung Hee Kim Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis Endocrinology and Metabolism multiple endocrine neoplasia multiple endocrine neoplasia type 1 genotype phenotype variant multicenter korea |
| title | Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis |
| title_full | Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis |
| title_fullStr | Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis |
| title_full_unstemmed | Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis |
| title_short | Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis |
| title_sort | genetic landscape and clinical manifestations of multiple endocrine neoplasia type 1 in a korean cohort a multicenter retrospective analysis |
| topic | multiple endocrine neoplasia multiple endocrine neoplasia type 1 genotype phenotype variant multicenter korea |
| url | http://www.e-enm.org/upload/pdf/enm-2024-2008.pdf |
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