2023
Optimizing Donor Chimerism Threshold for Next-Generation Sequencing Monitoring of Measurable Residual Disease Post-Allogeneic Stem Cell Transplantation for Myeloid Neoplasms
Puzo C, Tormey C, Rinder H, Siddon A. Optimizing Donor Chimerism Threshold for Next-Generation Sequencing Monitoring of Measurable Residual Disease Post-Allogeneic Stem Cell Transplantation for Myeloid Neoplasms. Transplantation And Cellular Therapy 2023, 29: 459.e1-459.e4. PMID: 37062510, DOI: 10.1016/j.jtct.2023.04.005.Peer-Reviewed Original ResearchConceptsAllogeneic stem cell transplantationStem cell transplantationDonor chimerismCell transplantationNGS testingPost allogeneic stem cell transplantationMeasurable residual diseaseNext-generation sequencingAcute myeloid leukemiaConditioning regimenRelated donorsMyelodysplastic syndromeResidual diseaseValidation cohortMyeloid leukemiaMyeloid neoplasmsNGS panelLogistic regressionPatientsChimerismSignificant predictorsCharacteristic curveTransplantationRegimenConservative thresholdMutational profiles and prognostic impact in colorectal and high‐grade appendiceal adenocarcinoma with peritoneal metastases
Morgan R, Dhiman A, Sood D, Ong C, Wu X, Shergill A, Polite B, Turaga K, Eng O. Mutational profiles and prognostic impact in colorectal and high‐grade appendiceal adenocarcinoma with peritoneal metastases. Journal Of Surgical Oncology 2023, 127: 831-840. PMID: 36636792, DOI: 10.1002/jso.27203.Peer-Reviewed Original ResearchConceptsHigh-grade appendiceal adenocarcinomaPeritoneal metastasisColorectal cancerAppendiceal adenocarcinomaTP53 mutationsMutation profilesHazard ratioIncreased peritoneal cancer indexPeritoneal cancer indexHyperthermic intraperitoneal chemotherapyHigh-volume centersIncreased HRAssociated with survivalIncreased hazard ratioCytoreductive surgeryIntraperitoneal chemotherapyPeritoneal spreadPrognostic impactOverall survivalCancer indexPIK3CA mutationsRetrospective reviewMucinous diseaseNGS testingAnalyzed outcomes
2022
Clinical actionability and utilization of next-generation sequencing for prostate cancer in a changing treatment landscape
Griffin J, Tsao C, Patel V, Liaw B, Guin S, Joshi H, Rossi M, Hantash F, Zhou X, Tewari A, Galsky M, Oh W, Chen R, Jun T. Clinical actionability and utilization of next-generation sequencing for prostate cancer in a changing treatment landscape. Frontiers In Urology 2022, 2: 997396. DOI: 10.3389/fruro.2022.997396.Peer-Reviewed Original ResearchMetastatic prostate cancerProstate cancerNGS testingNext-generation sequencingStudy periodLater-line treatmentSingle-center cohortDays of diagnosisPoly (ADP-ribose) polymerase (PARP) inhibitorsElectronic medical recordsPARP inhibitor treatmentMetastatic diseasePrior linesSystemic therapyTreatment landscapeMedian timeMetastatic diagnosisRetrospective studyMedical recordsMedian numberClinical actionabilityNext treatmentPatientsInhibitor treatmentNGS findings
2020
Criteria for Ordering Myeloid Neoplasm Next-Generation Sequencing to Optimize Personalized Patient Care and Cost
Gisriel S, Rinder H, Siddon A. Criteria for Ordering Myeloid Neoplasm Next-Generation Sequencing to Optimize Personalized Patient Care and Cost. Blood 2020, 136: 39-40. DOI: 10.1182/blood-2020-139035.Peer-Reviewed Original ResearchNext-generation sequencingNGS testingNGS testsAML/MDSEvidence-based indicationsPatients' emotional distressCancellation criteriaMedicaid Services reimbursementPersonalized patient careClinical suspicionPathologic diagnosisMedical recordsClinical indicationsClinical trialsChimerism statusUnnecessary testingMDS progressionPatient carePathogenic variantsMolecular findingsUnknown significancePatientsPathogenic mutationsService reimbursementMolecular diagnostic laboratoriesThe association between Medicare’s next generation sequencing (NGS), national coverage decision (NCD), and NGS utilization.
Wong W, Sheinson D, Ogale S, Flores C, Gross C. The association between Medicare’s next generation sequencing (NGS), national coverage decision (NCD), and NGS utilization. Journal Of Clinical Oncology 2020, 38: 98-98. DOI: 10.1200/jco.2020.38.29_suppl.98.Peer-Reviewed Original ResearchMetastatic breast cancerMetastatic colorectal cancerAdvanced non-small cell lung cancerNational coverage decisionNGS testingUtilization trendsNext-generation sequencingNGS testsNon-small cell lung cancerCell lung cancerInterrupted time series analysisDe-identified databaseDiagnosis dateAdvanced melanomaPrimary cancerRetrospective studyColorectal cancerLung cancerInsurance typeCancer clinicMetastatic cancerBreast cancerUse of NGSTesting ratesCancerUtilization of next-generation sequencing and associated systemic therapy initiation in metastatic prostate cancer.
Yang D, Leapman M, Gross C, Yu J. Utilization of next-generation sequencing and associated systemic therapy initiation in metastatic prostate cancer. Journal Of Clinical Oncology 2020, 38: e19308-e19308. DOI: 10.1200/jco.2020.38.15_suppl.e19308.Peer-Reviewed Original ResearchMetastatic prostate cancerSystemic therapy initiationTherapy initiationNGS test resultsNGS testingSystemic therapyMetastatic diagnosisNGS testsProstate cancerCommon systemic therapySystemic therapy selectionRetrospective observational studyNext-generation sequencing testDe-identified databaseMPC patientsTherapy startClinical outcomesMedian timeTherapy changesTreatment choiceObservational studyTherapy selectionGenomic classifierPatientsTherapy
2019
Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non–Small Cell Lung Cancer
Aggarwal C, Thompson J, Black T, Katz S, Fan R, Yee S, Chien A, Evans T, Bauml J, Alley E, Ciunci C, Berman A, Cohen R, Lieberman D, Majmundar K, Savitch S, Morrissette J, Hwang W, Elenitoba-Johnson K, Langer C, Carpenter E. Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non–Small Cell Lung Cancer. JAMA Oncology 2019, 5: 173-180. PMID: 30325992, PMCID: PMC6396811, DOI: 10.1001/jamaoncol.2018.4305.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorCarcinoma, Non-Small-Cell LungClinical Decision-MakingDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseHumansLung NeoplasmsMaleMiddle AgedMutationPatient SelectionPhenotypePrecision MedicinePredictive Value of TestsPrognosisProspective StudiesConceptsNon-small cell lung cancerTissue next-generation sequencingMetastatic non-small cell lung cancerCell lung cancerTargetable mutationsNext-generation sequencingLung cancerPlasma testingStage IV non-small cell lung cancerAllele fractionNGS testingClinical implicationsPlasma next-generation sequencingPersonalized therapyReal-world clinical settingProspective cohort studyResponse Evaluation CriteriaRoutine clinical managementNumber of patientsSolid Tumors responseDNA next-generation sequencingStable diseaseMutation allele fractionCohort studyPartial response
2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, Goldstein D, Shashi V, Members U, Alejandro M, Bacino C, Balasubramanyam A, Bostwick B, Burrage L, Chen S, Clark G, Craigen W, Dhar S, Emrick L, Graham B, Hanchard N, Jain M, Lalani S, Lee B, Lewis R, Azamian M, Moretti P, Nicholas S, Orange J, Posey J, Potocki L, Rosenfeld J, Samson S, Scott D, Tran A, Vogel T, Zhang J, Bellen H, Wangler M, Yamamoto S, Eng C, Muzny D, Ward P, Yang Y, Goldstein D, Stong N, Jiang Y, McConkie-Rosell A, Pena L, Schoch K, Shashi V, Spillmann R, Sullivan J, Walley N, Beggs A, Briere L, Cooper C, Donnell-Fink L, Krieg E, Krier J, Lincoln S, Loscalzo J, Maas R, MacRae C, Pallais J, Rodan L, Silverman E, Stoler J, Sweetser D, Walsh C, Esteves C, Holm I, Kohane I, Mazur P, McCray A, Might M, Ramoni R, Splinter K, Bick D, Birch C, Boone B, Brown D, Dorset D, Handley L, Jacob H, Jones A, Lazar J, Levy S, Newberry J, Schroeder M, Strong K, Worthey E, Dayal J, Eckstein D, Gould S, Howerton E, Krasnewich D, Mamounas L, Manolio T, Mulvihill J, Urv T, Wise A, Soldatos A, Brush M, Gourdine J, Haendel M, Koeller D, Kyle J, Metz T, Waters K, Webb-Robertson B, Ashley E, Bernstein J, Dries A, Fisher P, Kohler J, Waggott D, Wheeler M, Zornio P, Allard P, Barseghyan H, Dell'Angelica E, Dillon A, Dipple K, Dorrani N, Douine E, Eskin A, Fogel B, Herzog M, Lee H, Lipson A, Loo S, Martínez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Sinsheimer J, Vilain E, Zheng A, Adams C, Burke E, Chao K, Davids M, Draper D, Estwick T, Frisby T, Frost K, Gartner V, Godfrey R, Goheen M, Golas G, Gordon M, Groden C, Hackbarth M, Hardee I, Johnston J, Koehler A, Latham L, Latour Y, Lau C, Levy D, Liebendorfer A, Macnamara E, Maduro V, Markello T, McCarty A, Murphy J, Nehrebecky M, Novacic D, Pusey B, Sadozai S, Schaffer K, Sharma P, Thomas S, Tolman N, Toro C, Valivullah Z, Wahl C, Warburton M, Weech A, Yu G, Gropman A, Adams D, Gahl W, Malicdan M, Tifft C, Wolfe L, Lee P, Postlethwait J, Westerfield M, Bican A, Cogan J, Hamid R, Newman J, Phillips J, Robertson A. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genetics In Medicine 2017, 20: 464-469. PMID: 28914269, PMCID: PMC5851806, DOI: 10.1038/gim.2017.128.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingMagnetic resonance image changesPathogenic variantsSanger sequencingPhenotype-first approachFurther diagnostic testingNew clinical findingsInfantile neuroaxonal dystrophyHeterozygous pathogenic variantsInfantile systemic hyalinosisSingle-gene testingClinical suspicionClinical findingsConclusionThese casesCerebellar atrophyWhite matter leukoencephalopathyNeuroaxonal dystrophyProgressive ataxiaMolecular testingSystemic hyalinosisNGS testingNovel homozygous deletionUndiagnosed diseaseClinical diagnosisDiagnostic testingDisparities in next generation sequencing in a population-based community cohort of patients with advanced non-small cell lung cancer.
Presley C, Soulos P, Chiang A, Longtine J, Adelson K, Herbst R, Nussbaum N, Sorg R, Abernethy A, Agarwala V, Gross C. Disparities in next generation sequencing in a population-based community cohort of patients with advanced non-small cell lung cancer. Journal Of Clinical Oncology 2017, 35: 6563-6563. DOI: 10.1200/jco.2017.35.15_suppl.6563.Peer-Reviewed Original ResearchNon-small cell lung cancerAdvanced non-small cell lung cancerCell lung cancerNGS testingLung cancerBiomarker testingOncology practiceNext-generation sequencingNon-squamous non-small cell lung cancerPopulation-based community cohortReal-world clinical practiceMulti-gene panel testingInsurance-related disparitiesAdvanced lung cancerFirst-line treatmentHistory of smokingRetrospective observational studyElectronic health record dataWorld clinical practiceClustering of patientsHealth record dataYounger patientsMedian agePatient characteristicsWhite patients
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