2024
Artificial-Intelligence, Data-Driven, Comprehensive Classification of Myeloid Neoplasms Based on Genomic, Morphological and Histological Features
Lanino L, D'Amico S, Maggioni G, Al Ali N, Wang Y, Gurnari C, Gagelmann N, Bewersdorf J, Ball S, Guglielmelli P, Meggendorfer M, Hunter A, Kubasch A, Travaglino E, Campagna A, Ubezio M, Russo A, Todisco G, Tentori C, Buizza A, Sauta E, Zampini M, Riva E, Asti G, Delleani M, Ficara F, Santoro A, Sala C, Dall'Olio D, Dall'Olio L, Kewan T, Casetti I, Awada H, Xicoy B, Vucinic V, Hou H, Chou W, Yao C, Lin C, Tien H, Consagra A, Sallman D, Kern W, Bernardi M, Chiusolo P, Borin L, Voso M, Pleyer L, Palomo L, Quintela D, Jerez A, Cornejo E, Martin P, Díaz-Beyá M, Pita A, Roldan V, Suarez D, Velasco E, Calabuig M, Garcia-Manero G, Loghavi S, Platzbecker U, Sole F, Diez-Campelo M, Maciejewski J, Kröger N, Fenaux P, Fontenay M, Santini V, Haferlach T, Germing U, Padron E, Robin M, Passamonti F, Solary E, Vannucchi A, Castellani G, Zeidan A, Komrokji R, Della Porta M. Artificial-Intelligence, Data-Driven, Comprehensive Classification of Myeloid Neoplasms Based on Genomic, Morphological and Histological Features. Blood 2024, 144: 1005. DOI: 10.1182/blood-2024-204826.Peer-Reviewed Original ResearchGenomic featuresSplicing mutationBiallelic inactivationAnalysis of genomic profilesBiallelic inactivation of TP53Clinical phenotypeGene expression profilesCNV analysisMorphological featuresInactivation of TP53Myeloid neoplasmsGenomic characterizationRNAseq dataMorphological dataMutation screeningExpression profilesMutationsJAK/STATGenomic profilingGenomeHierarchical importanceHeterogeneous phenotypesIntegrated analysisPhenotypeHematological phenotypeA Molecular-Based Ecosystem to Improve Personalized Medicine in Patients with Chronic Myelomonocytic Leukemia (CMML)
Lanino L, Hunter A, Gagelmann N, Robin M, Sala C, Dall'Olio D, Gurnari C, Dall'Olio L, Wang Y, Pleyer L, Xicoy B, Montalban-Bravo G, Shih L, Haque T, Abdel-Wahab O, Geissler K, Bataller A, Bazinet A, Meggendorfer M, Casetti I, Sauta E, Travaglino E, Palomo L, Zamora L, Quintela D, Jerez A, Cornejo E, Garcia Martin P, Díaz-Beyá M, Avendaño Pita A, Roldan V, Fiallo Suarez D, Cerezo Velasco E, Calabuig M, Such E, Sanz G, Kubasch A, Castilla-Llorente C, Bulabois C, Souchet L, Awada H, Bernardi M, Chiusolo P, Curti A, Giaccone L, Onida F, Borin L, Passamonti F, Diral E, Vucinic V, Bergonzi G, Voso M, Hou H, Chou W, Yao C, Lin C, Tien H, Campagna A, Ubezio M, Russo A, Todisco G, Maggioni G, Tentori C, Buizza A, Asti G, Zampini M, Riva E, Delleani M, Consagra A, Ficara F, Santoro A, Carota L, Sanavia T, Rollo C, Kiwan A, VanOudenhove J, Fariselli P, Al Ali N, Sallman D, Kern W, Garcia-Manero G, Thota S, Griffiths E, Follo M, Finelli C, Platzbecker U, Sole F, Diez-Campelo M, Maciejewski J, Bejar R, Thol F, Kröger N, Fenaux P, Itzykson R, Graubert T, Fontenay M, Zeidan A, Komrokji R, Santini V, Haferlach T, Germing U, D'Amico S, Castellani G, Patnaik M, Solary E, Padron E, Della Porta M. A Molecular-Based Ecosystem to Improve Personalized Medicine in Patients with Chronic Myelomonocytic Leukemia (CMML). Blood 2024, 144: 1003-1003. DOI: 10.1182/blood-2024-200104.Peer-Reviewed Original ResearchChronic myelomonocytic leukemiaLeukemia-free survivalMyeloid neoplasmsProportion of patientsOverall survivalMolecular-based toolsMolecular informationEvaluation of mutation statusInfluence disease phenotypeGenomic overlapScoring systemGenomic associationsGenomic featuresSplicing machineryConcordance indexGenomic characterizationChronic myelomonocytic leukemia patientsMedian leukemia-free survivalProbability of disease relapseAllogeneic stem cell transplantationSignal transductionGenomic heterogeneityRisk of disease progressionMulti-color flow cytometryMutation screeningEnhancing Personalized Prognostic Assessment of Myelodysplastic Syndromes through a Multimodal and Explainable Deep Data Fusion Approach (MAGAERA)
Sauta E, Sartori F, Lanino L, Asti G, D'Amico S, Delleani M, Riva E, Zampini M, Zazzetti E, Bicchieri M, Maggioni G, Campagna A, Todisco G, Tentori C, Ubezio M, Russo A, Buizza A, Ficara F, Crisafulli L, Brindisi M, Ventura D, Pinocchio N, Rahal D, Lancellotti C, Bonometti A, Di Tommaso L, Savevski V, Santoro A, Derus N, Dall'Olio D, Santini V, Sole F, Platzbecker U, Fenaux P, Diez-Campelo M, Komrokji R, Garcia-Manero G, Haferlach T, Kordasti S, Zeidan A, Castellani G, Sanavia T, Fariselli P, Della Porta M. Enhancing Personalized Prognostic Assessment of Myelodysplastic Syndromes through a Multimodal and Explainable Deep Data Fusion Approach (MAGAERA). Blood 2024, 144: 105-105. DOI: 10.1182/blood-2024-205413.Peer-Reviewed Original ResearchPersonalized medicine programsMyelodysplastic syndrome patientsMyelodysplastic syndromeOverall survivalConcordance indexClinical outcomesMay-Grunwald-GiemsaHypomethylating agentsBone marrowAnalysis of hematological malignanciesSomatic mutation screeningEvaluation of T lymphocytesResponse to hypomethylating agentsCD34+ bone marrowStudies of myelodysplastic syndromesGenomic featuresMDS populationRNA-seqPrediction of patient outcomeGenomic characterizationHarrell's concordance indexPredicting Clinical OutcomesHematoxylin and eosin (H&EMorphological dataMulti-OmicsDNA methylation in mammalian development and disease
Smith Z, Hetzel S, Meissner A. DNA methylation in mammalian development and disease. Nature Reviews Genetics 2024, 26: 7-30. PMID: 39134824, DOI: 10.1038/s41576-024-00760-8.Peer-Reviewed Original ResearchLong-read sequencing technologiesDNA methylation fieldDNA methylation landscapeGenome functionMethylation landscapeSequencing technologiesEpigenetic codeGenomic characterizationRegulatory layerDNA methylationCell physiologyMammalian developmentMammalian lifespanGenetic featuresFunctional understandingSingle-cellDNAMechanistic discoveriesSomatic transitionsPhases of discoveryDevelopmental potentialDiscoveryPhenotypeSenescencePhysiologyCorrigendum: Genomic characterization of SARS-CoV-2 from an indigenous reserve in Mato Grosso do Sul, Brazil
de Oliveira L, de Rezende I, Navarini V, Marchioro S, Torres A, Croda J, Croda M, Gonçalves C, Xavier J, de Castro E, Lima M, Iani F, Adelino T, Aburjaile F, Demarchi L, Taira D, Zardin M, Fonseca V, Giovanetti M, Andrews J, Alcantara L, Simionatto S. Corrigendum: Genomic characterization of SARS-CoV-2 from an indigenous reserve in Mato Grosso do Sul, Brazil. Frontiers In Public Health 2024, 12: 1461598. PMID: 39145176, PMCID: PMC11322568, DOI: 10.3389/fpubh.2024.1461598.Peer-Reviewed Original ResearchGenomic characterization of plasmid-borne colistin resistance variants, mcr-1.1 and mcr-1.26, in multidrug-resistant Escherichia coli isolated from backyard farm animals
Daaboul D, Kassem I, El Omari K, Eltai N, Hassan J, Al Jamal H, Fayad S, Salma R, Ghorbani Tajani A, Bisha B, Hamze M, Oueslati S, Cummings K, Dabboussi F, Naas T, Osman M. Genomic characterization of plasmid-borne colistin resistance variants, mcr-1.1 and mcr-1.26, in multidrug-resistant Escherichia coli isolated from backyard farm animals. Journal Of Global Antimicrobial Resistance 2024, 38: 194-197. PMID: 38969269, DOI: 10.1016/j.jgar.2024.06.009.Peer-Reviewed Original Research
2023
Comprehensive genomic characterization of HER2-low and HER2-0 breast cancer
Tarantino P, Gupta H, Hughes M, Files J, Strauss S, Kirkner G, Feeney A, Li Y, Garrido-Castro A, Barroso-Sousa R, Bychkovsky B, DiLascio S, Sholl L, MacConaill L, Lindeman N, Johnson B, Meyerson M, Jeselsohn R, Qiu X, Li R, Long H, Winer E, Dillon D, Curigliano G, Cherniack A, Tolaney S, Lin N. Comprehensive genomic characterization of HER2-low and HER2-0 breast cancer. Nature Communications 2023, 14: 7496. PMID: 37980405, PMCID: PMC10657399, DOI: 10.1038/s41467-023-43324-w.Peer-Reviewed Original ResearchConceptsHER2-low tumorsBreast cancerHER2-negative metastatic breast cancerMetastatic breast cancerTumor mutational burdenHigh rateComprehensive genomic characterizationHER2 0Mutational burdenBreast tumorsTumorsHER2Genomic alterationsNext-generation sequencingSignificant differencesGenomic findingsCancerGenomic landscapeMolecular underpinningsHemideletionGenomic characterizationHigher numberPatientsCopy countsGenomic characterization of SARS-CoV-2 from an indigenous reserve in Mato Grosso do Sul, Brazil
de Oliveira L, de Rezende I, Navarini V, Marchioro S, Torres A, Croda J, Croda M, Gonçalves C, Xavier J, de Castro E, Lima M, Iani F, Adelino T, Aburjaile F, Demarchi L, Taira D, Zardin M, Fonseca V, Giovanetti M, Andrews J, Alcantara L, Simionatto S. Genomic characterization of SARS-CoV-2 from an indigenous reserve in Mato Grosso do Sul, Brazil. Frontiers In Public Health 2023, 11: 1195779. PMID: 37965526, PMCID: PMC10641392, DOI: 10.3389/fpubh.2023.1195779.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 lineagesIntroduction eventsCharacterization of SARS-CoV-2Nanopore sequencing platformSARS-CoV-2 positive samplesMultiple SARS-CoV-2 variantsMultiple introduction eventsPhylogenetic reconstructionPhylogenetic dataGenome sequenceSequencing platformsGenomic characterizationSARS-CoV-2Genomic surveillanceSARS-CoV-2 variantsLineagesMato GrossoMortality rateViral dynamicsIndigenous populationCo-circulationPrevalence of malesMidwestern BrazilPositive samplesIndigenous mobilizationMolecular characterisation of human adenoviruses associated with respiratory infections in Uganda
Ukuli Q, Erima B, Mubiru A, Atim G, Tugume T, Kibuuka H, Mworozi E, Ducatez M, Wabwire-Mangen F, Byarugaba D. Molecular characterisation of human adenoviruses associated with respiratory infections in Uganda. BMC Infectious Diseases 2023, 23: 435. PMID: 37370005, PMCID: PMC10294467, DOI: 10.1186/s12879-023-08403-9.Peer-Reviewed Original ResearchConceptsPolymerase chain reactionSpecies of human adenovirusHuman adenovirusDiverse group of virusesMultiple genetic variantsInfluenza-like illnessAdenovirus-vectored vaccineGroup of virusesGenome sequenceGenetic diversityAdenovirus-positiveHAdV infectionGenomic characterizationSequenced isolatesSpecies HAdV-BGenetic variantsRespiratory infectionsChildren Aged 5Hexon geneNasopharyngeal samplesGenotype B3Molecular characterisationTertiary hospitalUgandan populationCell lines
2021
PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma
Hong C, Khan M, Sukys J, Prasad M, Erson-Omay EZ, Vining E, Omay SB. PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma. Molecular Case Studies 2021, 8: mcs.a006120. PMID: 34667073, PMCID: PMC8744496, DOI: 10.1101/mcs.a006120.Peer-Reviewed Original ResearchConceptsCase of glomangiopericytomaWhole-exome sequencingInstitutional review board-approved protocolTargeted medical therapyUnderwent surgical resectionPI3K/Akt/mTORWnt/β-cateninAkt/mTORPrimary sinonasal tumorSurgical resectionClinicopathologic characteristicsMedical therapyRare tumorPIK3CA mutationsSinonasal tumorsGlomangiopericytomaTumorsΒ-cateninSomatic mutationsComprehensive genetic characterizationGenomic characterizationMutationsConcurrent dysregulationResectionSinonasalGenomic Characterization of Radiation‐Induced Intracranial Undifferentiated Pleomorphic Sarcoma
Hong CS, Partovi E, Clune J, Huttner A, Park HS, Omay SB. Genomic Characterization of Radiation‐Induced Intracranial Undifferentiated Pleomorphic Sarcoma. Case Reports In Genetics 2021, 2021: 5586072. PMID: 33747576, PMCID: PMC7960067, DOI: 10.1155/2021/5586072.Peer-Reviewed Original ResearchAn expanded universe of cancer targets
Hahn W, Bader J, Braun T, Califano A, Clemons P, Druker B, Ewald A, Fu H, Jagu S, Kemp C, Kim W, Kuo C, McManus M, B. Mills G, Mo X, Sahni N, Schreiber S, Talamas J, Tamayo P, Tyner J, Wagner B, Weiss W, Gerhard D, Dancik V, Gill S, Hua B, Sharifnia T, Viswanathan V, Zou Y, Dela Cruz F, Kung A, Stockwell B, Boehm J, Dempster J, Manguso R, Vazquez F, Cooper L, Du Y, Ivanov A, Lonial S, Moreno C, Niu Q, Owonikoko T, Ramalingam S, Reyna M, Zhou W, Grandori C, Shmulevich I, Swisher E, Cai J, Chan I, Dunworth M, Ge Y, Georgess D, Grasset E, Henriet E, Knútsdóttir H, Lerner M, Padmanaban V, Perrone M, Suhail Y, Tsehay Y, Warrier M, Morrow Q, Nechiporuk T, Long N, Saultz J, Kaempf A, Minnier J, Tognon C, Kurtz S, Agarwal A, Brown J, Watanabe-Smith K, Vu T, Jacob T, Yan Y, Robinson B, Lind E, Kosaka Y, Demir E, Estabrook J, Grzadkowski M, Nikolova O, Chen K, Deneen B, Liang H, Bassik M, Bhattacharya A, Brennan K, Curtis C, Gevaert O, Ji H, Karlsson K, Karagyozova K, Lo Y, Liu K, Nakano M, Sathe A, Smith A, Spees K, Wong W, Yuki K, Hangauer M, Kaufman D, Balmain A, Bollam S, Chen W, Fan Q, Kersten K, Krummel M, Li Y, Menard M, Nasholm N, Schmidt C, Serwas N, Yoda H, Ashworth A, Bandyopadhyay S, Bivona T, Eades G, Oberlin S, Tay N, Wang Y, Weissman J. An expanded universe of cancer targets. Cell 2021, 184: 1142-1155. PMID: 33667368, PMCID: PMC8066437, DOI: 10.1016/j.cell.2021.02.020.Peer-Reviewed Original ResearchConceptsNon-oncogene dependenciesDiversity of therapeutic targetsSomatically altered genesCancer targetCancer allelesInfluence therapyCancer genomesGenomic characterizationTherapeutic strategiesAltered genesCancer featuresCancer genesClinical translationCancerCancer biologyTherapeutic targetTumorGenomeGenes
2019
Return of the founder Chikungunya virus to its place of introduction into Brazil is revealed by genomic characterization of exanthematic disease cases
Maia Z, Pereira F, do Carmo Said R, Fonseca V, Gräf T, de Bruycker Nogueira F, Nardy V, Xavier J, Maia M, Abreu A, de Albuquerque C, Oliveira W, Croda J, de Filippis A, Cunha R, Lourenço J, de Oliveira T, Faria N, Alcantara L, Giovanetti M. Return of the founder Chikungunya virus to its place of introduction into Brazil is revealed by genomic characterization of exanthematic disease cases. Emerging Microbes & Infections 2019, 9: 53-57. PMID: 31880218, PMCID: PMC6968431, DOI: 10.1080/22221751.2019.1701954.Peer-Reviewed Original ResearchConceptsNumber of patientsGenomic surveillance strategiesFebrile illnessArboviral infectionsEpidemic seasonChikungunya virusWhole-genome sequencingDisease casesSurveillance strategiesGenetic diversityEpidemiological analysisMolecular clockCHIKV ECSA genotypeTransmission potentialGenome sequencingArboviral transmissionGenomic characterizationCHIKVLocal persistence
2017
Typing and comparative genome analysis of Brucella melitensis isolated from Lebanon
Zaki N, Salloum T, Osman M, Rafei R, Hamze M, Tokajian S. Typing and comparative genome analysis of Brucella melitensis isolated from Lebanon. FEMS Microbiology Letters 2017, 364: fnx199. PMID: 28961704, DOI: 10.1093/femsle/fnx199.Peer-Reviewed Original ResearchConceptsGenome analysisLateral gene transferComparative genome analysisDraft genome sequencingWhole-genome single nucleotide polymorphism (SNP) analysisB. melitensisZoonotic disease brucellosisDepth genomic characterizationMultiple virulence determinantsSingle nucleotide polymorphism analysisNucleotide polymorphism analysisSequence divergenceGenome comparisonGenomic islandsSingle nucleotide polymorphismsGenetic variationGenomic characterizationDisease brucellosisGene transferMobile elementsExome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations
Huang F, Mosquera J, Garofalo A, Oh C, Baco M, Amin-Mansour A, Rabasha B, Bahl S, Mullane S, Robinson B, Aldubayan S, Khani F, Karir B, Kim E, Chimene-Weiss J, Hofree M, Romanel A, Osborne J, Kim J, Azabdaftari G, Woloszynska-Read A, Sfanos K, De Marzo A, Demichelis F, Gabriel S, Van Allen E, Mesirov J, Tamayo P, Rubin M, Powell I, Garraway L. Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations. Cancer Discovery 2017, 7: 973-983. PMID: 28515055, PMCID: PMC5836784, DOI: 10.1158/2159-8290.cd-16-0960.Peer-Reviewed Original ResearchConceptsProstate cancerRecurrent loss-of-function mutationsSystematic genome sequencingCastration-resistant prostate cancerLethal castration-resistant prostate cancerProstate cancer tumor suppressor geneCancer sequencing studiesCancer genome characterizationLoss-of-function mutationsIncreased anchorage-independent growthPrimary prostate cancerAfrican American menProstate cancer cohortAnchorage-independent growthTumor suppressor geneProstate cancer genesGene expression signaturesTranscriptional repressorGenomic characterizationSequencing studiesExome sequencingCancer genesAndrogen signalingGene mutationsCancer cohortGenomics of peritoneal surface malignancies
Singh J, Sharma A, Ahuja N. Genomics of peritoneal surface malignancies. Journal Of Peritoneum (and Other Serosal Surfaces) 2017, 2 DOI: 10.4081/joper.2017.62.Peer-Reviewed Original ResearchPeritoneal malignancyHyperthermic intraperitoneal chemotherapyPeritoneal surface malignanciesLong-term survivalPrediction of responseAppendiceal neoplasmsIntraperitoneal chemotherapySurface malignanciesPeritoneal mesotheliomaPeritoneal metastasisPseudomyxoma peritoneiAggressive cytoreductionColorectal cancerTargeted therapyTerminal diseaseTherapeutic markersClinical decisionMalignancyClinical therapyTherapyGenomic alterationsMetastasisGenomic anomaliesGenomic characterizationCytoreduction
2016
Genomic characterization of acral lentiginous melanoma: Identification of altered metabolism as a potential therapeutic target.
Weiss S, Martinez C, Vega-Saenz de Miera E, Dolgalev I, Shapiro R, Heguy A, Hernando E, Kirchhoff T, Osman I. Genomic characterization of acral lentiginous melanoma: Identification of altered metabolism as a potential therapeutic target. Journal Of Clinical Oncology 2016, 34: 9524-9524. DOI: 10.1200/jco.2016.34.15_suppl.9524.Peer-Reviewed Original ResearchGenomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma.
Bi X, Zhao S, Adeniran A, Kluger H, Xie Z, Nawaf C, Merino M, Valera V, Pantuck A, Said J, Belldegrun A, Lifton R, Shuch B. Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma. Journal Of Clinical Oncology 2016, 34: 509-509. DOI: 10.1200/jco.2016.34.2_suppl.509.Peer-Reviewed Original ResearchDriver genesCancer driver genesSomatic mutationsProtein traffickingIllumina sequencingSomatic cellsGenomic characterizationCell differentiationCell adhesionLoss of heterozygosityClear cell renal cell carcinomaGenesMutational signaturesCell renal cell carcinomaClonal divergenceGenetic alterationsMutationsTP53 mutationsRepair deficiencySarcomatoid transformationSubset of tumorsCcRCCHypermutationRenal cell carcinomaBAP1Genomic Characterization of Poorly Differentiated Neuroendocrine Carcinoma in a Pediatric Patient
Bhatla T, Dandekar S, Lu B, Wang J, Han E, Bitterman D, Jones C, Evensen N, Magid M, Meyer J, Carroll W. Genomic Characterization of Poorly Differentiated Neuroendocrine Carcinoma in a Pediatric Patient. Journal Of Pediatric Hematology/Oncology 2016, 38: e21-e25. PMID: 26558807, PMCID: PMC4681625, DOI: 10.1097/mph.0000000000000463.Peer-Reviewed Case Reports and Technical NotesConceptsNeuroendocrine carcinomaRare tumorPediatric patientsPoor-differentiated neuroendocrine carcinomasMediastinal neuroendocrine carcinomaPrimary neuroendocrine carcinomaStandard treatment approachLack of standardized treatment approachWhole-exome sequencingLOH regionsGenomic characterizationExome sequencingSomatic variantsHRAS geneTumor tissuesMolecular taxonomyGenomic landscapeSomatic mutationsTumorTreatment approachesTherapeutic targetInvestigation of therapeutic targetsCarcinomaPatientsLOH
2015
Integrated genomic characterization of IDH1-mutant glioma malignant progression
Bai H, Harmancı AS, Erson-Omay EZ, Li J, Coşkun S, Simon M, Krischek B, Özduman K, Omay SB, Sorensen EA, Turcan Ş, Bakırcığlu M, Carrión-Grant G, Murray PB, Clark VE, Ercan-Sencicek AG, Knight J, Sencar L, Altınok S, Kaulen LD, Gülez B, Timmer M, Schramm J, Mishra-Gorur K, Henegariu O, Moliterno J, Louvi A, Chan TA, Tannheimer SL, Pamir MN, Vortmeyer AO, Bilguvar K, Yasuno K, Günel M. Integrated genomic characterization of IDH1-mutant glioma malignant progression. Nature Genetics 2015, 48: 59-66. PMID: 26618343, PMCID: PMC4829945, DOI: 10.1038/ng.3457.Peer-Reviewed Original ResearchConceptsDevelopmental transcription factorsActivation of MYCMalignant progressionGenomic approachesPI3K pathwayGlioma malignant progressionEpigenetic silencingIDH1 mutant gliomasTranscription factorsIntegrated genomic characterizationGenomic characterizationRTK-RASOncogenic pathwaysK pathwayClonal expansionPathwaySilencingMYCProgression
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