2025
Clinical-genomic profiling of MDS to inform allo-HCT: recommendations from an international panel on behalf of the EBMT
Gurnari C, Robin M, Adès L, Aljurf M, Almeida A, Duarte F, Bernard E, Cutler C, Della Porta M, De Witte T, DeZern A, Drozd-Sokolowska J, Duncavage E, Fenaux P, Gagelmann N, Garcia-Manero G, Haferlach C, Haferlach T, Hasserjian R, Hellström-Lindberg E, Jacoby M, Kulasekararaj A, Lindsley R, Maciejewski J, Makishima H, Malcovati L, Mittelman M, Myhre A, Ogawa S, Onida F, Papaemmanuil E, Passweg J, Platzbecker U, Pleyer L, Raj K, Santini V, Sureda A, Tobiasson M, Voso M, Yakoub-Agha I, Zeidan A, Walter M, Kröger N, McLornan D, Cazzola M. Clinical-genomic profiling of MDS to inform allo-HCT: recommendations from an international panel on behalf of the EBMT. Blood 2025, 145: 1987-2001. PMID: 39970324, DOI: 10.1182/blood.2024025131.Peer-Reviewed Original ResearchAllo-HCTMolecular International Prognostic Scoring SystemGenomic profilingInternational Prognostic Scoring SystemAllogeneic hematopoietic cell transplantationAssociated with superior clinical outcomesMutant hematopoietic cellsNon-transplant therapiesPrognostic scoring systemHematopoietic cell transplantationClinical practiceTime of diagnosisSuperior clinical outcomesEstimate patient survivalIPSS-MAllo-HSCTCell transplantationExpert international panelPatient survivalPredisposition variantsTherapeutic optionsClinical outcomesCurative treatmentGenetic abnormalitiesHematopoietic cells
2024
A Newly Identified Gene Ahed Plays Essential Roles in Murine Hematopoiesis through RNA Splicing
Nakai R, Yokota T, Tokunaga M, Takaishi M, Yokomizo T, Sudo T, Shi H, Yasumizu Y, Okuzaki D, Kokubu C, Tanaka S, Takaoka K, Yamanishi A, Yoshida J, Watanabe H, Kondoh G, Horie K, Hosen N, Sano S, Takeda J. A Newly Identified Gene Ahed Plays Essential Roles in Murine Hematopoiesis through RNA Splicing. Blood 2024, 144: 5614-5614. DOI: 10.1182/blood-2024-209978.Peer-Reviewed Original ResearchGene trap vectorUncharacterized genesRNA splicingDatabase of protein-protein interactionsConditional knockoutRegulation of RNA splicingHomozygous mutant clonesEmbryonic stem cellsDNA sequencing technologiesHematopoietic cellsFetal liverMutant embryonic stem cellsProtein-protein interactionsBloom's syndrome geneHematopoietic systemGene expression databaseDevelopment of hematopoietic cellsMouse ESC linesGenetic abnormalitiesMRNAs of genesEssential genesSequencing technologiesInterchromosomal recombinationTrap vectorUncharacterized functionFuture directions in myelodysplastic syndromes/neoplasms and acute myeloid leukaemia classification: from blast counts to biology
Della Porta M, Bewersdorf J, Wang Y, Hasserjian R. Future directions in myelodysplastic syndromes/neoplasms and acute myeloid leukaemia classification: from blast counts to biology. Histopathology 2024, 86: 158-170. PMID: 39450427, DOI: 10.1111/his.15353.Peer-Reviewed Original ResearchAcute myeloid leukemiaIntegration of genomic dataGenomic informationGenomic dataPresence of SF3B1 mutationsDisease entityMethylation profilesAML classificationRecurrent genetic abnormalitiesHaematopoietic cell proliferationPercentage of myeloblastsGene expressionGenetic featuresMultiple diagnostic modalitiesPatient risk stratificationSF3B1 mutationsBlast countDisease pathogenesisGenetic abnormalitiesCell proliferationTP53 abnormalitiesDiagnostic modalitiesMyeloid leukemiaBone marrowPatient cohortRisk of Genetic Abnormality in Fetuses With Unilateral Versus Bilateral Pleural Effusions
Burnett B, Parobek C, Shanahan M, Mitts M, Albrecht K, Munoz J, Buskmiller C, Nassar A, Cortes M, Belfort M, Donepudi R. Risk of Genetic Abnormality in Fetuses With Unilateral Versus Bilateral Pleural Effusions. Prenatal Diagnosis 2024, 44: 1296-1303. PMID: 39237466, DOI: 10.1002/pd.6657.Peer-Reviewed Original ResearchConceptsFetal pleural effusionPrimary fetal pleural effusionRate of genetic abnormalitiesBilateral effusionsPleural effusionGenetic abnormalitiesGenetic testingFetal interventionCases of fetal pleural effusionRates of respiratory distress syndromeGenetic diagnosisDiagnostic genetic testingPrenatal genetic testingIncidence of genetic abnormalitiesRisk of genetic abnormalitiesRate of genetic diagnosisBilateral pleural effusionRetrospective cohort studyRespiratory distress syndromeCohort studyInclusion criteriaPerinatal outcomesNeonatal deathSingleton pregnanciesThoracoamniotic shuntingEIF1AX mutation in thyroid nodules: a histopathologic analysis of 56 cases in the context of institutional practices
Abi-Raad R, Xu B, Gilani S, Ghossein R, Prasad M. EIF1AX mutation in thyroid nodules: a histopathologic analysis of 56 cases in the context of institutional practices. Virchows Archiv 2024, 485: 859-867. PMID: 39225726, PMCID: PMC11912518, DOI: 10.1007/s00428-024-03914-5.Peer-Reviewed Original ResearchFollicular nodular diseaseAnaplastic thyroid carcinomaPapillary thyroid carcinomaEIF1AX mutationsBenign thyroid nodulesThyroid carcinomaThyroid nodulesOncocytic adenomasMolecular alterationsGenetic abnormalitiesNon-invasive follicular thyroid neoplasmPapillary-like nuclear featuresAssociated with malignant tumorsWHO 5th EditionCancer referral centerFollicular thyroid neoplasmTertiary care hospitalOncocytic carcinomaThyroid neoplasmsReferral centerNodular diseasePathological diagnosisCancer Genome AtlasMalignant tumorsEIF1AXClinicopathologic Characteristics of MYC Copy Number Amplification in Breast Cancer
Sun T, Golestani R, Zhan H, Krishnamurti U, Harigopal M, Zhong M, Liang Y. Clinicopathologic Characteristics of MYC Copy Number Amplification in Breast Cancer. International Journal Of Surgical Pathology 2024, 33: 59-64. PMID: 38839260, DOI: 10.1177/10668969241256109.Peer-Reviewed Original ResearchBreast cancerCopy number amplificationClinicopathological characteristicsAssociation with <i>TP53</i> mutation. InAssociated with invasive ductal carcinomaEstrogen receptor (ER)-negativeDisease-free survival timeGene copy number amplificationC-myc immunostainingNon-amplified tumorsTP53</i> mutationsTriple-negative statusMetastatic breast cancerInvasive ductal carcinomaMYC protein overexpressionBreast cancer patientsTriple-negativeDuctal carcinomaClinicopathological featuresGenetic abnormalitiesClinical dataImmunohistochemical studiesCancer patientsProtein overexpressionSurvival timeRing Chromosome 19
Wen J, Chong M. Ring Chromosome 19. 2024, 271-278. DOI: 10.1007/978-3-031-47530-6_23.Peer-Reviewed Original ResearchPercentage of mosaicismRare chromosomal aberrationGenotype-phenotype correlationSeverity of clinical featuresGenomic investigationsChromosome 19Genetic imbalanceVariable clinical manifestationsRare genetic abnormalitySurvive into adulthoodCarrier parentsSevere phenotypeClinical featuresLaboratory findingsInherited casesClinical manifestationsGenetic abnormalitiesChromosomal aberrationsClinical implicationsMosaicismFamilial transmissionPhenotypeComprehensive understandingIntellectual disabilityPatients
2023
Placental Pathology Findings in Unexplained Pregnancy Losses
Thompson B, Holzer P, Kliman H. Placental Pathology Findings in Unexplained Pregnancy Losses. Reproductive Sciences 2023, 31: 488-504. PMID: 37725247, PMCID: PMC10827979, DOI: 10.1007/s43032-023-01344-3.Peer-Reviewed Original ResearchWeeks of gestationCommon pathologic featureSmall placentaPathologic featuresPregnancy lossChorionic villiPlacental pathology findingsUnexplained lossUnexplained pregnancy lossAntepartum stillbirthPlacental examinationUnexplained stillbirthPathology findingsUnexplained miscarriagePrevalent abnormalityPathologic diagnosisClinical databaseStillbirthMiscarriagePathology slidesDiagnostic categoriesGenetic abnormalitiesClassification systemPlacentaPotential mechanismsTreatment Considerations of Myelodysplastic Syndromes/Neoplasms for Pathologists
Madanat Y, Zeidan A. Treatment Considerations of Myelodysplastic Syndromes/Neoplasms for Pathologists. Clinics In Laboratory Medicine 2023, 43: 685-698. PMID: 37865511, DOI: 10.1016/j.cll.2023.07.003.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsBone marrow biopsy reportsAvailable treatment optionsBest therapeutic approachClinical presentationPathologic findingsRisk stratificationTherapeutic optionsTreatment optionsBiopsy reportsDisease entityTherapeutic approachesTreatment considerationsAccurate diagnosisGenetic abnormalitiesDiagnosisDisease subclassificationPatientsNeoplasmsHematopathologistsOptionsPrognosticationAbnormalitiesCliniciansSubclassificationKIF4 Gene Variant’s Disruption of PARP1 Signaling Increases Anxiety and Seizure Susceptibility
Bordey A. KIF4 Gene Variant’s Disruption of PARP1 Signaling Increases Anxiety and Seizure Susceptibility. Epilepsy Currents 2023, 23: 257-258. PMID: 37662464, PMCID: PMC10470092, DOI: 10.1177/15357597231175007.Peer-Reviewed Original ResearchSeizure susceptibilityDevelopmental delayLower seizure thresholdHippocampal pyramidal neuronsSeizure susceptibility phenotypesCommon neurological diseasesPoly (ADP-ribose) polymeraseMild developmental delayKCC2 pathwaySeizure thresholdPyramidal neuronsEpilepsy treatmentMember of kinesinNeurological diseasesNeurological disordersBehavioral testsNeuronal morphologyMutant miceGenetic abnormalitiesIncreases anxietyPotential targetIntellectual disabilityEpilepsySignaling pathwaysSusceptibility phenotypeHow I treat AML incorporating the updated classifications and guidelines
Chaer F, Hourigan C, Zeidan A. How I treat AML incorporating the updated classifications and guidelines. Blood 2023, 141: 2813-2823. PMID: 36758209, PMCID: PMC10447497, DOI: 10.1182/blood.2022017808.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsAcute myeloid leukemiaClinical treatment guidelinesDaily clinical practiceInternational consensus classificationSomatic genetic abnormalitiesGerm-line predispositionWorld Health OrganizationTreatment guidelinesEuropean LeukemiaNetRisk stratificationHematologic malignanciesMyeloid leukemiaNovel therapiesMyeloid neoplasmsResponse assessmentClinical practiceNew treatmentsAML biologyConsensus classificationGenetic abnormalitiesTesting guidelinesHealth OrganizationGenetic driversRecent updatesTreatment
2022
Copy number variants and fetal growth in stillbirths
Dalton S, Workalemahu T, Allshouse A, Page J, Reddy U, Saade G, Pinar H, Goldenberg R, Dudley D, Silver R. Copy number variants and fetal growth in stillbirths. American Journal Of Obstetrics And Gynecology 2022, 228: 579.e1-579.e11. PMID: 36356697, PMCID: PMC10149588, DOI: 10.1016/j.ajog.2022.11.1274.Peer-Reviewed Original ResearchConceptsAbnormal copy number variantsFetal growth abnormalitiesGestational ageOdds ratioStillbirth Collaborative Research NetworkGenetic abnormalitiesChromosomal microarrayGestational age outcomesGestational age infantsGrowth abnormalitiesClinical risk factorsCohort study designAdjusted odds ratioCopy number variantsUnknown clinical significancePathogenic copy number variantsPlacental insufficiencyAge infantsNumber variantsFetal growthMaternal ageRisk factorsClinical significanceHigh incidenceStillbirthUltimate tensile strength and biaxial stress–strain responses of aortic tissues—A clinical-engineering correlation
Dong H, Liu M, Lou X, Leshnower B, Sun W, Ziganshin B, Zafar M, Elefteriades J. Ultimate tensile strength and biaxial stress–strain responses of aortic tissues—A clinical-engineering correlation. Applications In Engineering Science 2022, 10: 100101. DOI: 10.1016/j.apples.2022.100101.Peer-Reviewed Original ResearchThoracic aortic dissectionAortic dissectionAortic tissueDissection eventsBicuspid aortic valveUnderlying genetic abnormalitiesHuman aortic tissueHypertensive episodesAortic arch morphologyAortic valveAdvanced ageTissue injuryConnective tissue ingrowthAged animalsAortic wallInciting factorsGenetic abnormalitiesClinical contextArch morphologyDissectionDissected tissuesTissueResponseTissue ingrowthInjuryThe Coming of Age of Preclinical Models of MDS
Liu W, Teodorescu P, Halene S, Ghiaur G. The Coming of Age of Preclinical Models of MDS. Frontiers In Oncology 2022, 12: 815037. PMID: 35372085, PMCID: PMC8966105, DOI: 10.3389/fonc.2022.815037.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsTranscription factorsEpigenetic modifiersComplex molecular landscapeXenograft modelHematopoietic cellsDeletions/additionsMolecular landscapeRecurrent mutationsCell linesGenetic abnormalitiesMDS cellsXenograft murine modelChromosomal abnormalitiesCellsIneffective hematopoiesisTransgenicHematopoiesisMutationsPreclinical modelsWide spectrumMurine modelHeterogeneous groupLandscapeComing of ageChapter 25 Pharmacogenomics and outcomes for hepatocellular cancer treatment
Ghanta M, Hussain M, Karnalkar A, Nagabhishek S, Nuthalapati P, Bhaskar L. Chapter 25 Pharmacogenomics and outcomes for hepatocellular cancer treatment. 2022, 401-414. DOI: 10.1016/b978-0-323-99283-1.00003-3.Peer-Reviewed Original ResearchHepatocellular carcinomaEffects of systemic treatmentRisk factorsPrevalence of genetic variantsSystemic therapy efficacyHepatocellular carcinoma recurrenceHuman genomeMultiple genesSingle-geneGenetic variantsSystemic treatmentPharmacogenomicsGenetic abnormalitiesTherapy efficacyViral infectionGenetic mutationsEconomic burdenPotential targetGeographic prevalenceEfficacyGenomeFood habitsRiskGenesCarcinoma
2021
Neonatal hyperinsulinism in transient and classical forms of tyrosinemia
Sethuram S, Sperling MA, Gujral J, Romero CJ. Neonatal hyperinsulinism in transient and classical forms of tyrosinemia. Orphanet Journal Of Rare Diseases 2021, 16: 190. PMID: 33910593, PMCID: PMC8082838, DOI: 10.1186/s13023-020-01642-y.Peer-Reviewed Original ResearchConceptsHyperinsulinemic hypoglycemiaMonths of lifeSpectrum of disordersRare metabolic disorderTransient tyrosinemiaDiazoxide therapyNeonatal periodPersistent hypoglycemiaInsulin secretionMaturational defectNeonatal hyperinsulinismRare caseMetabolic disordersHepatotoxic effectsPatientsBenign conditionsHereditary tyrosinemiaGenetic abnormalitiesBiochemical evaluationNovel presentationTyrosine metabolismEmbryonal originTyrosinemiaEnzyme defectFumarylacetoacetate hydrolaseGenetics, not the uterine environment, drive the formation of trophoblast inclusions: Insights from a twin study
Katz J, Holzer PH, Kliman HJ. Genetics, not the uterine environment, drive the formation of trophoblast inclusions: Insights from a twin study. Placenta 2021, 114: 133-138. PMID: 33941390, DOI: 10.1016/j.placenta.2021.04.010.Peer-Reviewed Original ResearchConceptsMean differenceUterine environmentTwin pairsTrophoblast inclusionsRetrospective case seriesCase seriesPregnancy lossIntrauterine environmentFetal geneticsMZ twinsDZ twinsDizygotic twin pairsMZ twin pairsGenetic abnormalitiesPlacentaZygosity groupsTwin individualsAverage numberMonozygoticTwin studiesMean absolute differenceAbsolute differenceDifferencesGroupFetuses
2020
Sperm ion channels and transporters in male fertility and infertility
Wang H, McGoldrick LL, Chung JJ. Sperm ion channels and transporters in male fertility and infertility. Nature Reviews Urology 2020, 18: 46-66. PMID: 33214707, PMCID: PMC7852504, DOI: 10.1038/s41585-020-00390-9.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsSperm ion channelsIon channelsSperm cellsMammalian sperm cellsIon signalingDynamic regulationDefective sperm functionFemale reproductive tractChannel CatSperHuman geneticsMembrane receptorsMale fertilityHealth careAttractive targetDirect electrophysiological recordingsOverall health careHuman infertilityReproductive health careSperm functionPrincipal Ca2Development of contraceptivesSperm activityGene variantsReproductive tractGenetic abnormalitiesDiagnosis of digestive system tumours
Washington M, Goldberg R, Chang G, Limburg P, Lam A, Salto‐Tellez M, Arends M, Nagtegaal I, Klimstra D, Rugge M, Schirmacher P, Lazar A, Odze R, Carneiro F, Fukayama M, Cree I, Board W. Diagnosis of digestive system tumours. International Journal Of Cancer 2020, 148: 1040-1050. PMID: 32674220, DOI: 10.1002/ijc.33210.Peer-Reviewed Original ResearchConceptsDiagnosis of tumorsNeuroendocrine tumorsClassification of neuroendocrine tumorsWHO classification of tumorsLiquid biopsy resultsDysplasia to carcinomaWHO blue bookClassification of tumorsDigestive system tumorsBiopsy resultsWHO classificationGenetic abnormalitiesPrecancerous lesionsSystem tumorsBiliary tractMalignant processDiagnostic InnovationsCare of patientsTumorTreatment selectionClinical practiceOutcome predictionCarcinomaPatientsDiagnosisDe novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease
Boskovski MT, Homsy J, Nathan M, Sleeper LA, Morton S, Manheimer KB, Tai A, Gorham J, Lewis M, Swartz M, Alfieris GM, Bacha EA, Karimi M, Meyer D, Nguyen K, Bernstein D, Romano-Adesman A, Porter GA, Goldmuntz E, Chung WK, Srivastava D, Kaltman JR, Tristani-Firouzi M, Lifton R, Roberts AE, Gaynor JW, Gelb BD, Kim R, Seidman JG, Brueckner M, Mayer JE, Newburger JW, Seidman CE. De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease. Circulation Genomic And Precision Medicine 2020, 13: e002836-e002836. PMID: 32812804, PMCID: PMC7439931, DOI: 10.1161/circgen.119.002836.Peer-Reviewed Original ResearchConceptsWorse transplant-free survivalTransplant-free survivalExtra-cardiac anomaliesCongenital heart diseaseDe novo variantsHeart diseaseFinal extubationNovo variantsFirst operationPost-operative outcomesOpen heart surgeryPreoperative genetic testingRoutine clinical practiceDamaging variantsWhole-exome sequencingHeart transplantationAdverse outcomesSurgical dataPatientsClinical practiceCardiac repairClinical phenotypeDe novoGenetic testingGenetic abnormalities
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