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dc.contributor.authorMaeng, Chi Hoon
dc.contributor.authorLee, Jeeyun
dc.contributor.authorvan Hummelen, Paul
dc.contributor.authorJang, Jiryeon
dc.contributor.authorKim, Kyoung-Mee
dc.contributor.authorShim, Young-Mog
dc.contributor.authorPark, Se Hoon
dc.contributor.authorPalescandolo, Emanuele
dc.contributor.authorPark, Ha Young
dc.contributor.authorKang, So Young
dc.contributor.authorMacConaill, Laura Eleanor
dc.date.accessioned2013-03-18T18:48:00Z
dc.date.issued2012
dc.identifier.citationMaeng, Chi Hoon, Jeeyun Lee, Paul van Hummelen, Se Hoon Park, Emanuele Palescandolo, Jiryeon Jang, Ha Young Park, So Young Kang, Laura MacConaill, Kyoung-Mee Kim, and Young-Mog Shim. 2012. High-throughput genotyping in metastatic esophageal squamous cell carcinoma identifies phosphoinositide-3-kinase and BRAF mutations. PLoS ONE 7(8).en_US
dc.identifier.issn1932-6203en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:10436288
dc.description.abstractBackground: Given the high incidence of metastatic esophageal squamous cell carcinoma, especially in Asia, we screened for the presence of somatic mutations using OncoMap platform with the aim of defining subsets of patients who may be potential candidate for targeted therapy. Methods and Materials We analyzed 87 tissue specimens obtained from 80 patients who were pathologically confirmed with esophageal squamous cell carcinoma and received 5-fluoropyrimidine/platinum-based chemotherapy. OncoMap 4.0, a mass-spectrometry based assay, was used to interrogate 471 oncogenic mutations in 41 commonly mutated genes. Tumor specimens were prepared from primary cancer sites in 70 patients and from metastatic sites in 17 patients. In order to test the concordance between primary and metastatic sites from the patient for mutations, we analyzed 7 paired (primary-metastatic) specimens. All specimens were formalin-fixed paraffin embedded tissues and tumor content was >70%. Results: In total, we have detected 20 hotspot mutations out of 80 patients screened. The most frequent mutation was PIK3CA mutation (four E545K, five H1047R and one H1047L) (N = 10, 11.5%) followed by MLH1 V384D (N = 7, 8.0%), TP53 (R306, R175H and R273C) (N = 3, 3.5%), BRAF V600E (N = 1, 1.2%), CTNNB1 D32N (N = 1, 1.2%), and EGFR P733L (N = 1, 1.2%). Distributions of somatic mutations were not different according to anatomic sites of esophageal cancer (cervical/upper, mid, lower). In addition, there was no difference in frequency of mutations between primary-metastasis paired samples. Conclusions: Our study led to the detection of potentially druggable mutations in esophageal SCC which may guide novel therapies in small subsets of esophageal cancer patients.en_US
dc.language.isoen_USen_US
dc.publisherPublic Library of Scienceen_US
dc.relation.isversionofdoi:10.1371/journal.pone.0041655en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411721/pdf/en_US
dash.licenseLAA
dc.subjectBiologyen_US
dc.subjectEvolutionary Biologyen_US
dc.subjectPopulation Geneticsen_US
dc.subjectMutationen_US
dc.subjectGeneticsen_US
dc.subjectCancer Geneticsen_US
dc.subjectGenetic Mutationen_US
dc.subjectMedicineen_US
dc.subjectOncologyen_US
dc.subjectCancer Risk Factorsen_US
dc.subjectGenetic Causes of Canceren_US
dc.subjectCancers and Neoplasmsen_US
dc.subjectGastrointestinal Tumorsen_US
dc.subjectEsophageal Canceren_US
dc.subjectHead and Neck Tumorsen_US
dc.subjectHead and Neck Squamous Cell Carcinomaen_US
dc.titleHigh-Throughput Genotyping in Metastatic Esophageal Squamous Cell Carcinoma Identifies Phosphoinositide-3-Kinase and BRAF Mutationsen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalPLoS ONEen_US
dash.depositing.authorPalescandolo, Emanuele
dc.date.available2013-03-18T18:48:00Z
dc.identifier.doi10.1371/journal.pone.0041655*
dash.authorsorderedfalse
dash.contributor.affiliatedPalescandolo, Emanuele
dash.contributor.affiliatedMacConaill, Laura


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