Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients
DC Field | Value | Language |
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dc.contributor.author | Seo, Ja Young | - |
dc.contributor.author | Ahn, Jeong-Yeal | - |
dc.contributor.author | Keam, Bhumsuk | - |
dc.contributor.author | Kim, Miso | - |
dc.contributor.author | Yoon, Shinkyo | - |
dc.contributor.author | Lee, Jae Lyun | - |
dc.contributor.author | Park, Kwonoh | - |
dc.contributor.author | Park, Inkeun | - |
dc.date.available | 2020-12-30T01:40:13Z | - |
dc.date.created | 2020-11-23 | - |
dc.date.issued | 2021-03 | - |
dc.identifier.issn | 2234-3806 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/79499 | - |
dc.description.abstract | Background: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome. HLRCC is characterized by the development of cutaneous leiomyomas, early-onset uterine leiomyomas, and HLRCC-associated renal cell cancer (RCC) and caused by germline fumarate hydratase (FH) deficiency. We investigated the genotypic and phenotypic characteristics of Korean patients with HLRCC. Methods: We performed direct sequencing analysis of FH in 13 patients with suspected HLRCC and their family members. A chromosomal microarray test was performed in female patients with negative sequencing results but highly suspected HLRCC. In addition, we analyzed the clinical characteristics and evaluated the genotype-phenotype correlations in Korean patients with HLRCC. Results: We identified six different pathogenic or likely pathogenic FH variants in six of the 13 patients (46.2%). The variants included two nonsense variants, two splicing variants, one frameshift variant, and one missense variant. Of the six variants, two (33.3%) were novel (c.132+1G>C, and c.243dup). RCC and early-onset uterine leiomyoma were frequently observed in families with HLRCC, while cutaneous leiomyoma was less common. No significant genotype-phenotype correlation was observed. Conclusions: We describe the genotypic and phenotypic spectrum in a small series of Korean patients with HLRCC. Our data reveal the unique characteristics of Korean patients with HLRCC and suggest a need for establishing an optimal diagnostic approach for them. © 2020 Seoul National University, Institute for Cognitive Science. All rights reserved. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | KOREAN SOC LABORATORY MEDICINE | - |
dc.relation.isPartOf | ANNALS OF LABORATORY MEDICINE | - |
dc.title | Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000598179900009 | - |
dc.identifier.doi | 10.3343/alm.2021.41.2.207 | - |
dc.identifier.bibliographicCitation | ANNALS OF LABORATORY MEDICINE, v.41, no.2, pp.207 - 213 | - |
dc.identifier.kciid | ART002686078 | - |
dc.description.isOpenAccess | N | - |
dc.identifier.scopusid | 2-s2.0-85093484053 | - |
dc.citation.endPage | 213 | - |
dc.citation.startPage | 207 | - |
dc.citation.title | ANNALS OF LABORATORY MEDICINE | - |
dc.citation.volume | 41 | - |
dc.citation.number | 2 | - |
dc.contributor.affiliatedAuthor | Seo, Ja Young | - |
dc.contributor.affiliatedAuthor | Ahn, Jeong-Yeal | - |
dc.contributor.affiliatedAuthor | Park, Inkeun | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | FH | - |
dc.subject.keywordAuthor | Genotype | - |
dc.subject.keywordAuthor | Hereditary leiomyomatosis and renal cell cancer | - |
dc.subject.keywordAuthor | Korean | - |
dc.subject.keywordAuthor | Novel variant | - |
dc.subject.keywordAuthor | Phenotype | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
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