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Updated: Oct 22, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Why Is Aneuploidy Associated with Favorable Outcome in Neuroblastoma?
1Laboratory of Target Discovery and Biology of Neuroblastoma, Pediatric Research Institute, Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy.
Abstract:
Neuroblastoma is a pediatric cancer, onset with localized as well as metastatic disease. Localized tumors usually show a high content of aneuploid cells. It is suggested that aneuploid cells with numerical copy number variation (CNV) are generated by chromosome instability (CIN). Patients with a localized tumor respond well to the therapy and show a good outcome. On the contrary, patients with a metastatic tumor have worse outcomes and the cells with structural CNV show high levels of CIN. It is proposed that a favorable outcome in patients with localized disease is associated to the grade of CIN.
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