Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.

ABSTRACT:

Background

We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited tumor predisposition syndromes in all three family members: Birt-Hogg-Dubé syndrome and Li-Fraumeni syndrome. The corresponding genes (FLCN and TP53) are both located on the short arm of chromosome 17.

Methods

We describe the phenotype and performed single nucleotide polymorphism (SNP)-based loss of heterozygosity (LOH) analysis of the tumors.

Results

All examined tumors showed somatic loss of the wild-type alleles of both FLCN and TP53.

Conclusions

We hypothesize that a synergistic effect of both mutations caused the unusual phenotype of childhood renal cell

SUBMITTER: van de Beek I 

PROVIDER: S-EPMC9938753 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature