2024
Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix
Bellone S, Jeong K, Halle M, Krakstad C, McNamara B, Greenman M, Mutlu L, Demirkiran C, Hartwich T, Yang-Hartwich Y, Zipponi M, Buza N, Hui P, Raspagliesi F, Lopez S, Paolini B, Milione M, Perrone E, Scambia G, Altwerger G, Ravaggi A, Bignotti E, Huang G, Andikyan V, Clark M, Ratner E, Azodi M, Schwartz P, Quick C, Angioli R, Terranova C, Zaidi S, Nandi S, Alexandrov L, Siegel E, Choi J, Schlessinger J, Santin A. Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2321898121. PMID: 38625939, PMCID: PMC11046577, DOI: 10.1073/pnas.2321898121.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingPatient-derived-xenograftsBase excision repairCopy number lossMultiregion whole-exome sequencingCopy number gainHigh-grade neuroendocrine carcinomaCNV analysisPhylogenetic analysisEvolutionary historyNeuroendocrine cervical cancerHuman papillomavirus DNAMutator phenotypeSensitivity to afatinibGenetic landscapeRecurrent mutationsRNA sequencingGene fusionsMutational landscape analysisExcision repairGenesMutationsPan-HERConsistent with deficiencyNeuroendocrine carcinoma
2020
Integrated genomic and functional analysis of patient-derived sarcoma cell lines validates their use for candidate treatment discovery including knockdown of a novel BCOR fusion gene.
Swierczek S, Pandya D, Billaud J, Vigil Dominguez I, Farisello S, Sieber S, Chen Y, Chuang L, Andikyan V, Martignetti J. Integrated genomic and functional analysis of patient-derived sarcoma cell lines validates their use for candidate treatment discovery including knockdown of a novel BCOR fusion gene. Journal Of Clinical Oncology 2020, 38: e23572-e23572. DOI: 10.1200/jco.2020.38.15_suppl.e23572.Peer-Reviewed Original ResearchMalignant peripheral nerve sheath tumorSomatic copy number alterationsGenomic diversityBioinformatics approachBioinformatics analysisPeritoneal nodulesFusion genePeripheral nerve sheath tumorsAggressive soft tissue sarcomaNerve sheath tumorsSoft tissue sarcomasCopy number alterationsNovel therapeutic approachesMetastatic tumor samplesRNA sequencingCell line modelsUpstream regulatorFunctional analysisDriver variantsSarcoma cell linesCell deathMPNST patientsTumor cell deathSheath tumorsWhole exome