Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).

ABSTRACT:

Purpose

We set out to facilitate the molecular diagnosis of patients with PIK3CA-related overgrowth spectrum (PROS), a heterogeneous somatic disorder characterized by variable presentations of segmental overgrowth, vascular malformations, skin lesions, and nephroblastomatosis, rare precursor lesions to Wilms tumor. Molecular diagnosis of PROS is challenging due to its mosaic nature, often requiring invasive biopsies.

Methods

Digital droplet polymerase chain reaction (ddPCR) was used to analyze tissues including urine, saliva, buccal cells, and blood, from eight patients with PROS. Further analyses were performed on plasma and urine cell-free DNA (cfDNA).

Results

PIK3CA variants were detected in plasma cfDNA at levels up to 0.5% in 50% of tested samples. In addition, h

SUBMITTER: Biderman Waberski M 

PROVIDER: S-EPMC9365240 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature