Ontology highlight
ABSTRACT:
SUBMITTER: Hol JA
PROVIDER: S-EPMC7026215 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Hol J A JA Jongmans M C J MCJ Littooij A S AS de Krijger R R RR Kuiper R P RP van Harssel J J T JJT Mensenkamp A A Simons M M Tytgat G A M GAM van den Heuvel-Eibrink M M MM van Grotel M M
Familial cancer 20200101 1
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of developing renal cell carcinoma (RCC), which is usually adult-onset. HLRCC-related RCC tends to be aggressive and can metastasize even when the primary tumor is small. Data on children and adolescents are scarce. Herein, we report two patie ...[more]