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논문 기본 정보

자료유형
학술저널
저자정보
Seo Ja Young (Department of Laboratory Medicine Gil Medical Center Gachon University College of Medicine Incheon) Ahn Jeong-Yeal (Department of Laboratory Medicine Gil Medical Center Gachon University College of Medicine Incheon) Keam Bhumsuk (Division of Medical Oncology Department of Internal Medicine Seoul National University Hospital Seo) Kim Miso (Division of Medical Oncology Department of Internal Medicine Seoul National University Hospital Seo) Yoon Shinkyo (Department of Oncology Asan Medical Center University of Ulsan College of Medicine Seoul Korea) Lee Jae Lyun (Department of Oncology Asan Medical Center University of Ulsan College of Medicine Seoul Korea) Park Kwonoh (Division of Medical Oncology and Hematology Department of Internal Medicine Pusan National Universi) Park Inkeun (Division of Medical Oncology Department of Internal Medicine Gil Medical Center Gachon University C)
저널정보
대한진단검사의학회 Annals of Laboratory Medicine Annals of Laboratory Medicine 제41권 제2호
발행연도
2021.1
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207 - 213 (7page)

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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.
#FH #Genotype #Hereditary leiomyomatosis and renal cell cancer #Korean #Novel variant #Phenotype

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참고문헌 (27)

참고문헌 신청
Launonen V / 2001 / Inherited susceptibility to uterine leiomyomas and renal cell cancer / Proc Natl Acad Sci U S A 98:3387~3392 google schola Moch H / 2016 / The 2016WHO classification of tumours of the urinary system and male genital organs-part A: renal, penile, and testicular tumours / Eur Urol 70:93~105 google schola Tomlinson IP / 2002 / Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer / Nat Genet 30:406~410 google schola Toro JR / 2003 / Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America / Am J Hum Genet 73:95~106 google schola Wei MH / 2006 / Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer / J Med Genet 43:18~27 google schola

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