ARID1B alterations identify aggressive tumors in neuroblastoma

Oncotarget
Soo Hyun LeeKi W Sung

Abstract

Targeted panel sequencing was performed to determine molecular targets and biomarkers in 72 children with neuroblastoma. Frequent genetic alterations were detected in ALK (16.7%), BRCA1 (13.9%), ATM (12.5%), and PTCH1 (11.1%) in an 83-gene panel. Molecular targets for targeted therapy were identified in 16 of 72 patients (22.2%). Two-thirds of ALK mutations were known to increase sensitivity to ALK inhibitors. Sequence alterations in ARID1B were identified in 5 of 72 patients (6.9%). Four of five ARID1B alterations were detected in tumors of high-risk patients. Two of five patients with ARID1B alterations died of disease progression. Relapse-free survival was lower in patients with ARID1B alterations than in those without (p = 0.01). In analysis confined to high-risk patients, 3-year overall survival was lower in patients with an ARID1B alteration (33.3 ± 27.2%) or MYCN amplification (30.0 ± 23.9%) than in those with neither ARID1B alteration nor MYCN amplification (90.5 ± 6.4%, p = 0.05). These results provide possibilities for targeted therapy and a new biomarker identifying a subgroup of neuroblastoma patients with poor prognosis.

References

May 4, 2002·The Biochemical Journal·Adam F L HurlstoneHans Clevers
Jun 2, 2004·The Biochemical Journal·Xiaomei WangElizabeth Moran
Jan 11, 2005·Nucleic Acids Research·Antonia PatsialouElizabeth Moran
Jun 8, 2006·European Journal of Human Genetics : EJHG·Mehrdad KhajaviJames R Lupski
Oct 17, 2008·Nature·Yuyan ChenSeishi Ogawa
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Jan 19, 2010·Bioinformatics·Heng Li, Richard Durbin
Jan 30, 2010·Nature·Lena Ho, Gerald R Crabtree
Feb 15, 2011·Pediatric Blood & Cancer·Thomas PerweinChristian Urban
Apr 14, 2011·Cell Cycle·Konstantin J DedesJorge S Reis-Filho
Aug 16, 2011·The Biochemical Journal·Christina SchönherrBengt Hallberg
Nov 1, 2011·Analytical Chemistry·Benjamin J HindsonBill W Colston
Nov 11, 2011·Science Translational Medicine·Scott C BreslerYaël P Mossé
Dec 21, 2011·The Journal of Biological Chemistry·Fuhua XuElizabeth Moran
Jan 22, 2013·Nature Genetics·Trevor J PughJohn M Maris
Jan 29, 2013·PloS One·A Hunter Shain, Jonathan R Pollack
Feb 12, 2013·Nature Biotechnology·Kristian CibulskisGad Getz
Oct 30, 2013·Klinische Pädiatrie·J H SchulteA Eggert
Nov 26, 2013·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Peter Bouwman, Jos Jonkers
Jan 3, 2014·International Journal of Cancer. Journal International Du Cancer·Tatiana CajusoPia Vahteristo
Nov 5, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Bella KaufmanSusan M Domchek
Feb 13, 2015·Intractable & Rare Diseases Research·Joe C H SimPaul J Lockhart
May 24, 2015·Annals of Oncology : Official Journal of the European Society for Medical Oncology·Y TogashiK Nishio
Sep 2, 2015·JAMA : the Journal of the American Medical Association·Rajen J ModyArul M Chinnaiyan
Oct 16, 2015·Nature·Martin PeiferMatthias Fischer
Nov 3, 2015·Nature Genetics·Linda J ValentijnRogier Versteeg
Oct 28, 2016·Nature Genetics·Sameer AgnihotriGelareh Zadeh

❮ Previous
Next ❯

Citations

Jan 11, 2019·Oncotarget·Zhuo XingY Eugene Yu
Nov 5, 2019·Frontiers in Genetics·Marcelo L RibeiroGaël Roué
Jan 20, 2018·Cell and Tissue Research·Kaat Durinck, Frank Speleman
Mar 31, 2019·Molecular Cancer Therapeutics·Siyuan ZhengJohn F de Groot
Jan 7, 2021·Cancer Metastasis Reviews·Irfete S Fetahu, Sabine Taschner-Mandl
Sep 30, 2020·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Andrew Dj PearsonGilles Vassal
Mar 23, 2021·Frontiers in Cell and Developmental Biology·Luca Pagliaroli, Marco Trizzino
Jun 3, 2021·Journal of Personalized Medicine·Jeremy Z R HanDavid R Croucher
Apr 16, 2021·Cancer Research·Anthony M MusolfJoan E Bailey-Wilson

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

Omni
LoFreq
GATK
Picard
SAMTOOLS
GraphPadPrism
BWA
BaseRecalibrator
ANNOVAR
MuTect

Related Concepts

Related Feeds

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.

Cancer Genomics (Keystone)

Cancer genomics approaches employ high-throughput technologies to identify the complete catalog of somatic alterations that characterize the genome, transcriptome and epigenome of cohorts of tumor samples. Discover the latest research using such technologies in this feed.

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.