Somatic TP53 Mutations Are Detectable in Circulating Tumor DNA from Children with Anaplastic Wilms Tumors

Translational Oncology
Taryn D TregerWilliam Mifsud

Abstract

Diffuse anaplastic Wilms tumor (DAWT) is a rare, high-risk subtype that is often missed on diagnostic needle biopsy. Somatic mutations in TP53 are associated with the development of anaplasia and with poorer survival, particularly in advanced-stage disease. Early identification of DAWT harboring TP53 abnormalities could improve risk stratification of initial therapy and monitoring for recurrence. Droplet digital polymerase chain reaction (ddPCR) was used to evaluate 21 samples from 4 patients with DAWT. For each patient, we assessed TP53 status in frozen tumor, matched germline DNA, and circulating tumor DNA (ctDNA) from plasma, serum, and urine collected throughout treatment. Mutant TP53 was detectable in ctDNA from plasma and serum in all patients. We did not detect variant TP53 in the same volume (200 μl) of urine. One patient displayed heterogeneity of TP53 in the tumor despite both histological sections displaying anaplasia. Concentration of ctDNA from plasma/serum taken prenephrectomy varied significantly between patients, ranging from 0.44 (0.05-0.90) to 125.25 (109.75-140.25) copies/μl. We observed variation in ctDNA throughout treatment, and in all but one patient, ctDNA levels fell significantly following nephrectomy....Continue Reading

Citations

Jul 26, 2019·Journal of Clinical Laboratory Analysis·Xiaokai HuangHaixia Zhou
Jun 28, 2020·Cancer Medicine·Ana Carolina Kerekes MiguezDirce Maria Carraro
Dec 15, 2019·Cancer Metastasis Reviews·Daniel A WeiserMark A Applebaum
Feb 2, 2019·Nature Reviews. Nephrology·Taryn Dora TregerSam Behjati
Oct 16, 2021·Nature Reviews. Disease Primers·Filippo SpreaficoKathy Pritchard-Jones
Nov 14, 2021·Molecular Diagnosis & Therapy·Susana Olmedillas-LópezDamián García-Olmo
Nov 30, 2021·Current Opinion in Pediatrics·R Taylor SundbyJack F Shern

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Methods Mentioned

BETA
biopsy
PCR
urine collected
Assay
urine sampling
biopsies

Software Mentioned

ggplot2
R Studio
Annovar
ApE
QuantaSoft
Blat
4peaks

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