CASP8 SNP D302H (rs1045485) is Associated with Worse Survival in MYCN-amplified Neuroblastoma Patients

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2014 Dec 16

PMID 25502557

Citations 10

Authors

Ali Rihani

Bram De Wilde

Fjoralba Zeka

Genevieve Laureys

Nadine Francotte

Gian Paolo Tonini

Simona Coco

Rogier Versteeg

Rosa Noguera

Johannes H Schulte

Angelika Eggert

Raymond L Stallings

Frank Speleman

Jo Vandesompele

Tom Van Maerken

Affiliations

Soon will be listed here.

Abstract

Background: Neuroblastoma is a pediatric cancer that exhibits a wide clinical spectrum ranging from spontaneous regression in low-risk patients to fatal disease in high-risk patients. The identification of single nucleotide polymorphisms (SNPs) may help explain the heterogeneity of neuroblastoma and assist in identifying patients at higher risk for poor survival. SNPs in the TP53 pathway are of special importance, as several studies have reported associations between TP53 pathway SNPs and cancer. Of note, less than 2% of neuroblastoma tumors have a TP53 mutation at diagnosis.

Patients And Methods: We selected 21 of the most frequently studied SNPs in the TP53 pathway and evaluated their association with outcome in 500 neuroblastoma patients using TaqMan allelic discrimination assays.

Results And Conclusion: We investigated the impact of 21 SNPs on overall survival, event-free survival, age at diagnosis, MYCN status, and stage of the disease in 500 neuroblastoma patients. A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-free survival in patients with MYCN-amplified neuroblastoma tumors.

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