Chromosomal anomalies at 1q, 3, 16q, and mutations of SIX1 and DROSHA genes underlie Wilms tumor recurrences

Oncotarget
Filippo SpreaficoDaniela Perotti

Abstract

Approximately half of children suffering from recurrent Wilms tumor (WT) develop resistance to salvage therapies. Hence the importance to disclose events driving tumor progression/recurrence. Future therapeutic trials, conducted in the setting of relapsing patients, will need to prioritize targets present in the recurrent lesions. Different studies identified primary tumor-specific signatures associated with poor prognosis. However, given the difficulty in recruiting specimens from recurrent WTs, little work has been done to compare the molecular profile of paired primary/recurrent diseases. We studied the genomic profile of a cohort of eight pairs of primary/recurrent WTs through whole-genome SNP arrays, and investigated known WT-associated genes, including SIX1, SIX2 and micro RNA processor genes, whose mutations have been recently proposed as associated with worse outcome. Through this approach, we sought to uncover anomalies characterizing tumor recurrence, either acquired de novo or already present in the primary disease, and to investigate whether they overlapped with known molecular prognostic signatures. Among the aberrations that we disclosed as potentially acquired de novo in recurrences, some had been already recogni...Continue Reading

References

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Citations

Apr 5, 2016·International Journal of Molecular Sciences·Nicole LudwigEckart Meese
Feb 26, 2016·Molecular Cytogenetics·A C V KrepischiD M Carraro
Oct 28, 2018·International Journal of Cancer. Journal International Du Cancer·Philip KruberManfred Gessler
Mar 12, 2019·Current Opinion in Hematology·Akiko Hata, Giorgio Lagna
Dec 22, 2019·Nature Communications·Andrew J MurphyAndrew M Davidoff
Jan 30, 2020·Revista da Associação Médica Brasileira·Bruna M de Sá PereiraMariana Maschietto
Dec 19, 2019·Cancer Metastasis Reviews·Karina Bezerra SalomãoMaría Sol Brassesco
Dec 21, 2020·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Jesper BrokFilippo Spreafico
Feb 10, 2021·Journal of Cell Science·Matteo CabriniSofia Francia
Jul 3, 2021·Cancers·Alissa GroenendijkAnnelies M C Mavinkurve-Groothuis

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Methods Mentioned

BETA
cDNA sequencing
Exome Sequencing
genotyping

Software Mentioned

Ensembl
SNPRank
RepeatMasker
Illumina Genome Studio
Nexus

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