Portal de investigación
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.
Fecha de publicación:
Fecha Ahead of Print:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Sánchez-Heras AB
- Castillejo A
- García-Díaz JD
- Robledo M
- Teulé A
- Sánchez R
- Lastra E
- Durán M
- Llort G
- Yagüe C
- Ramon Y Cajal T
- López San Martin C
- López-Fernández A
- Balmaña J
- Robles L
- Mesa-Latorre JM
- Chirivella I
- Fonfria M
- Perea Ibañez R
- Castillejo MI
- Escandell I
- Gomez L
- Berbel P
- Soto JL
Grupos
Abstract
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations. Analyses were performed using R 3.6.0. software. We included 197 individuals: 74 index cases and 123 relatives. CLMs were diagnosed in 65% of patients, ULMs in 90% of women, RCys in 37% and RCC in 10.9%. Twenty-seven different pathogenic variants were detected, 12 (44%) of them not reported previously. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants ( p = 0.0380, p = 0.0015 and p = 0.024, respectively). This is the first report of patients with HLRCC from Spain. The frequency of RCCs was lower than those reported in the previously published series. Individuals with missense pathogenic variants had higher frequencies of CLMs, ULMs and RCys.
Datos de la publicación
- ISSN/ISSNe:
- 2072-6694, 2072-6694
- Tipo:
- Article
- Páginas:
- -
- Factor de Impacto:
- 1,818 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
Cancers MDPI
Citas Recibidas en Web of Science: 7
Documentos
- No hay documentos
Filiaciones
Keywords
- FH gene, hereditary leiomyomatosis, leiomyomas, missense pathogenic variants, renal cell cancer
Campos de estudio
Proyectos asociados
Función del factor de traducción eIF5A en la síntesis del colágeno y en colagenopatías.
Investigador Principal: PAULA ALEPUZ MARTÍNEZ
AICO/2020/086 . 2020
Cita
Sánchez AB,Castillejo A,García JD,Robledo M,Teulé A,Sánchez R,Zúñiga Á,Lastra E,Durán M,Llort G,Yagüe C,Ramon YT,López San Martin C,López A,Balmaña J,Robles L,Mesa JM,Chirivella I,Fonfria M,Perea R,Castillejo MI,Escandell I,Gomez L,Berbel P,Soto JL. Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization. Cancers (Basel). 2020. 12. (11):3277. IF:6,639. (1).