2020
A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance
Mendoza H, Chen PH, Pine AB, Siddon AJ, Bale AE, Gowda L, Killie A, Richards J, Varin-Tremblay C, Kloss R, Podoltsev NA. A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance. Leukemia & Lymphoma 2020, 62: 1251-1254. PMID: 33345654, DOI: 10.1080/10428194.2020.1861276.Peer-Reviewed Case Reports and Technical NotesWide variation in use and interpretation of gene mutation profiling panels among health care providers of patients with myelodysplastic syndromes: results of a large web-based survey
Pine AB, Chokr N, Stahl M, Steensma DP, Sekeres MA, Litzow MR, Luger SM, Stone RM, Greenberg PL, Bejar R, Bewersdorf JP, Gore SD, Zeidan AM. Wide variation in use and interpretation of gene mutation profiling panels among health care providers of patients with myelodysplastic syndromes: results of a large web-based survey. Leukemia & Lymphoma 2020, 61: 1455-1464. PMID: 32026740, DOI: 10.1080/10428194.2020.1723013.Peer-Reviewed Original ResearchConceptsMyelodysplastic syndromeRisk stratificationMolecular profilingNext-generation sequencingWeb-based surveyRole of NGSManagement of patientsUtility of NGSEvidence-based guidelinesHealth care providersLarge web-based surveyMDS patientsPractice patternsTreatment decisionsCare providersResponse assessmentProviders' beliefsPatientsInstitutional guidelinesGene mutationsDiagnosisSyndromeTesting logisticsInterpretation of resultsWide variation
2019
Getting personal with myelodysplastic syndromes: is now the right time?
Chokr N, Pine AB, Bewersdorf JP, Shallis RM, Stahl M, Zeidan AM. Getting personal with myelodysplastic syndromes: is now the right time? Expert Review Of Hematology 2019, 12: 215-224. PMID: 30977414, PMCID: PMC6540985, DOI: 10.1080/17474086.2019.1592673.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsMyelodysplastic syndromeNext-generation sequencingTherapy selectionPrognosis of MDSRole of NGSPrognosis of patientsRoutine clinical practiceMinimal residual diseaseRecurrent genetic abnormalitiesResidual diseaseBlood countDisease stagePeripheral bloodHematologic malignanciesPrognostic evaluationMDS pathogenesisRoutine managementTherapy decisionsHealthy individualsBone marrowClinical practiceCytological examinationPatientsScoring systemDiagnostic accuracy