ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 36 citations in OpenAlex.
- Review
- A comprehensive overview of liquid biopsy applications in pediatric solid tumors.NPJ precision oncology · 2024Review
- Insights into Personalized Care Strategies for Wilms Tumor: A Narrative Literature Review.Biomedicines · 2024Review
- Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.Orphanet journal of rare diseases · 2024Article
- Hallmark discoveries in the biology of Wilms tumour.Nature reviews. Urology · 2024Review
- Genomic profiling informs diagnoses and treatment in vascular anomalies.Nature medicine · 2023Article
- Kidney Preservation and Wilms Tumor Development in Children with Diffuse Hyperplastic Perilobar Nephroblastomatosis: A Report from the Children's Oncology Group Study AREN0534.Annals of surgical oncology · 2022Article
- Screening of cancer predisposition syndromes.Pediatric radiology · 2022Review
- Current and Emerging Applications of Droplet Digital PCR in Oncology: An Updated Review.Molecular diagnosis & therapy · 2022Review
- A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clinical genetics · 2022Review
- Non-coding RNAs in Wilms' tumor: biological function, mechanism, and clinical implications.Journal of molecular medicine (Berlin, Germany) · 2021Review
- Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.BMC bioinformatics · 2021Article
- Assessment of somatic mutations in urine and plasma of Wilms tumor patients.Cancer medicine · 2020Article
- Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth.Frontiers in pediatrics · 2020Review
- Effect of green GO/Au nanocomposite on in-vitro amplification of human DNA.IET nanobiotechnology · 2019Article
- Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.Clinical genetics · 2019Article
- Somatic TP53 Mutations Are Detectable in Circulating Tumor DNA from Children with Anaplastic Wilms Tumors.Translational oncology · 2018Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
purposeWe 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.
methodsDigital 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).
resultsPIK3CA variants were detected in plasma cfDNA at levels up to 0.5% in 50% of tested samples. In addition, high levels of PIK3CA variants in urine cfDNA correlated with a history of nephroblastomatosis compared with patients without renal involvement (P < 0.05).
conclusionDigital droplet PCR is a sensitive molecular tool that enables low-level variant detection of PIK3CA in various tissue types, providing an alternative diagnostic method. Furthermore, urine cfDNA is a candidate biomarker for nephroblastomatosis in PROS, which may be useful to refine screening guidelines for tumor risk in these patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.