Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients
- Authors
- Seo, Ja Young; Ahn, Jeong-Yeal; Keam, Bhumsuk; Kim, Miso; Yoon, Shinkyo; Lee, Jae Lyun; Park, Kwonoh; Park, Inkeun
- Issue Date
- Mar-2021
- Publisher
- KOREAN SOC LABORATORY MEDICINE
- Keywords
- FH; Genotype; Hereditary leiomyomatosis and renal cell cancer; Korean; Novel variant; Phenotype
- Citation
- ANNALS OF LABORATORY MEDICINE, v.41, no.2, pp.207 - 213
- Journal Title
- ANNALS OF LABORATORY MEDICINE
- Volume
- 41
- Number
- 2
- Start Page
- 207
- End Page
- 213
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/79499
- DOI
- 10.3343/alm.2021.41.2.207
- ISSN
- 2234-3806
- 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.
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