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Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population

DC FieldValueLanguage
dc.contributor.author강상욱-
dc.contributor.author신새암-
dc.contributor.author이승태-
dc.contributor.author이유미-
dc.contributor.author최종락-
dc.contributor.author홍남기-
dc.date.accessioned2021-01-19T08:01:03Z-
dc.date.available2021-01-19T08:01:03Z-
dc.date.issued2020-12-
dc.identifier.issn2093-596X-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/181427-
dc.description.abstractBackground: Pheochromocytoma and paragangliomas (PPGL) are hereditary in approximately 30% to 40% cases. With the advancement of genetic analysis techniques, including next-generation sequencing (NGS), there were attempts to classify PPGL into molecular clusters. With NGS being applied to clinical settings recently, we aimed to review the results of genetic analysis, including NGS, and investigate the association with clinical characteristics in Korean PPGL patients. Methods: We reviewed the medical records of PPGL patients who visited Severance hospital from 2006 to 2019. We documented the clinical phenotype of those who underwent targeted NGS or had known germline mutations of related genes. Results: Among 57 PPGL patients, we found 28 pathogenic germline mutations of susceptibility genes. Before the targeted NGS was implemented, only obvious syndromic feature lead to the Sanger sequencing for the specific genes. Therefore, for the exact prevalence, only patients after the year 2017, when targeted NGS was added, were included (n=43). The positive germline mutations were found in 14 patients; thus, the incidence rate is 32.6%. Patients with germline mutations had a higher likelihood of family history. There were significant differences in the type of PPGLs, percentage of family history, metastasis rate, presence of other tumors, and biochemical profile among three molecular clusters: pseudohypoxic tricarboxylic acid cycle-related, pseudohypoxic von Hippel-Lindau (VHL)/endothelial PAS domain-containing protein 1-related, and kinase-signaling group. Germline mutations were identified in seven PPGL-related genes (SDHB, RET, VHL, NF1, MAX, SDHA, and SDHD). Conclusion: We report the expected prevalence of germline mutations in Korean PPGL patients. NGS is a useful and accessible tool for genetic analysis in patients with PPGLs, and further research on molecular classification is needed for precise management.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherKorean Endocrine Society-
dc.relation.isPartOfEndocrinology and Metabolism (대한내분비학회지)-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleGenetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Surgery (외과학교실)-
dc.contributor.googleauthorHeewon Choi-
dc.contributor.googleauthorKyoung Jin Kim-
dc.contributor.googleauthorNamki Hong-
dc.contributor.googleauthorSaeam Shin-
dc.contributor.googleauthorJong-Rak Choi-
dc.contributor.googleauthorSang Wook Kang-
dc.contributor.googleauthorSeung Tae Lee-
dc.contributor.googleauthorYumie Rhee-
dc.identifier.doi10.3803/EnM.2020.683-
dc.contributor.localIdA00032-
dc.contributor.localIdA02108-
dc.contributor.localIdA02108-
dc.contributor.localIdA04627-
dc.contributor.localIdA04627-
dc.contributor.localIdA03012-
dc.contributor.localIdA03012-
dc.contributor.localIdA04182-
dc.contributor.localIdA04182-
dc.contributor.localIdA04388-
dc.contributor.localIdA04388-
dc.relation.journalcodeJ00773-
dc.identifier.eissn2093-5978-
dc.identifier.pmid33397040-
dc.subject.keywordGenetic testing-
dc.subject.keywordGerm-line mutation-
dc.subject.keywordHigh-throughput nucleotide sequencing-
dc.subject.keywordParaganglioma-
dc.subject.keywordPheochromocytoma-
dc.subject.keywordPrecision medicine-
dc.contributor.alternativeNameKang, Sang Wook-
dc.contributor.affiliatedAuthor강상욱-
dc.contributor.affiliatedAuthor신새암-
dc.contributor.affiliatedAuthor신새암-
dc.contributor.affiliatedAuthor이승태-
dc.contributor.affiliatedAuthor이승태-
dc.contributor.affiliatedAuthor이유미-
dc.contributor.affiliatedAuthor이유미-
dc.contributor.affiliatedAuthor최종락-
dc.contributor.affiliatedAuthor최종락-
dc.contributor.affiliatedAuthor홍남기-
dc.contributor.affiliatedAuthor홍남기-
dc.citation.volume35-
dc.citation.number4-
dc.citation.startPage858-
dc.citation.endPage872-
dc.identifier.bibliographicCitationEndocrinology and Metabolism (대한내분비학회지), Vol.35(4) : 858-872, 2020-12-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers

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