2025
Germline-encoded recognition of peanut underlies development of convergent antibodies in humans
Marini-Rapoport O, Andrieux L, Keswani T, Zong G, Duchen D, Yaari G, Min J, Lytle I, Rosenberg A, Fucile C, Kobie J, Piepenbrink M, Sun T, Martin V, Yuan Q, Shreffler W, Seppo A, Järvinen K, Loeffler J, Ward A, Kleinstein S, Pedersen L, Fernández-Quintero M, Mueller G, Patil S. Germline-encoded recognition of peanut underlies development of convergent antibodies in humans. Science Translational Medicine 2025, 17: eadw4148. PMID: 40498852, DOI: 10.1126/scitranslmed.adw4148.Peer-Reviewed Original ResearchConceptsGene rearrangementsAllergen-specific IgG antibodiesPeanut-allergic childrenContext of food allergyGermline antibody repertoireDietary antigensAntibody gene rearrangementsPublic epitopesFood allergySerum IgGIgG antibodiesAntibody specificityImmunoglobulin GDiverse cohortAntibodiesAntibody repertoireAra h 2IgG recognitionEpitope-paratope interactionH-2AntigenGermlineIgGPeanut allergen Ara h 2Antigenicity of food proteins
2024
Myoid Hamartoma of the Breast With HMGA2 Rearrangement and Associated In-Situ and Invasive Carcinoma: Case Report and Review of Literature
Ines F, Marketkar S, Ng S, Manrai P, Sung C, Bridge J, Singh K. Myoid Hamartoma of the Breast With HMGA2 Rearrangement and Associated In-Situ and Invasive Carcinoma: Case Report and Review of Literature. International Journal Of Surgical Pathology 2024, 33: 689-699. PMID: 39471995, DOI: 10.1177/10668969241271420.Peer-Reviewed Original ResearchMyoid hamartomaInvasive carcinomaGene rearrangementsLikelihood of malignant transformationBenign breast neoplasmsBenign clinical courseFluorescence in situ hybridization analysisRare breast lesionSmooth muscle bundlesClinical courseStromal compartmentCase reportOverexpression of HMGA2Breast lesionsMalignant transformationRadiological studiesBreast neoplasmsHMGA2 rearrangementsAncillary testsProtein overexpressionHamartomaMolecular findingsStromal cellsAnechoic areasAdipose tissueAutoregulated splicing of TRA2β programs T cell fate in response to antigen-receptor stimulation
Karginov T, Ménoret A, Leclair N, Harrison A, Chandiran K, Suarez-Ramirez J, Yurieva M, Karlinsey K, Wang P, O'Neill R, Murphy P, Adler A, Cauley L, Anczuków O, Zhou B, Vella A. Autoregulated splicing of TRA2β programs T cell fate in response to antigen-receptor stimulation. Science 2024, 385: eadj1979. PMID: 39265028, PMCID: PMC11697694, DOI: 10.1126/science.adj1979.Peer-Reviewed Original ResearchConceptsRNA-binding proteinsT cell fateT cell receptor sensitivityT cell receptorPoison exonGenomes of jawed vertebratesPosttranscriptional regulatory mechanismsResponse to antigen receptor stimulationAntigen receptor stimulationTranscriptional regulationJawed vertebratesAlternative splicingSignaling transcriptsT cell survivalRegulatory mechanismsTCR sensitivitySplicingT-cell receptor gene rearrangementEffector T cell expansionT cell responses to antigenTRA2BT cell expansionResponse to antigenGene rearrangementsHistocompatibility complex
2022
Health outcomes modelling of RNA-based versus DNA-based detection of driver gene rearrangements in non-small cell lung cancer.
Jun T, Oh W, Schadt E, Higashi M. Health outcomes modelling of RNA-based versus DNA-based detection of driver gene rearrangements in non-small cell lung cancer. Journal Of Clinical Oncology 2022, 40: e18837-e18837. DOI: 10.1200/jco.2022.40.16_suppl.e18837.Peer-Reviewed Original ResearchQuality-adjusted life yearsTargeted therapyLung cancerNTRK1-3Gene rearrangementsLife yearsNon-small cell lung cancerMetastatic NSCLC casesTargeted therapy optionsCell lung cancerPopulation-level prevalence dataRNA-based methodsMetastatic NSCLCMET exonStable diseaseNSCLC casesSequencing panelTherapy optionsDNA-based methodsClinical impactFalse negativesHazard ratioNegative casesFDA approvalTherapy
2020
Cutaneous Involvement in Plasma Cell Myeloma
Panse G, Subtil A, McNiff JM, Glusac EJ, Ko CJ, Galan A, Myung P, Xu ML. Cutaneous Involvement in Plasma Cell Myeloma. American Journal Of Clinical Pathology 2020, 155: 106-116. PMID: 32885235, DOI: 10.1093/ajcp/aqaa122.Peer-Reviewed Original ResearchConceptsPlasma cell myelomaCutaneous involvementSquamous cell carcinomaAmyloid depositionCell carcinomaCell myelomaCases of PCMBone marrow involvementCyclin D1 immunoreactivityDisease-related deathLight chain restrictionCCND1 gene rearrangementMarrow involvementSkin involvementClinicopathologic featuresCytomorphologic spectrumCutaneous lesionsPoor outcomeCommon immunophenotypeChain restrictionClinical dataCytogenetic findingsOlder individualsGene rearrangementsMyeloma
2019
ALCL by any other name: the many facets of anaplastic large cell lymphoma
Irshaid L, Xu ML. ALCL by any other name: the many facets of anaplastic large cell lymphoma. Pathology 2019, 52: 100-110. PMID: 31706671, DOI: 10.1016/j.pathol.2019.09.007.Peer-Reviewed Original ResearchConceptsAnaplastic large cell lymphomaAnaplastic lymphoma kinaseALK gene translocationALK(-) ALCLLarge cell lymphomaALK gene rearrangementVariable prognosisFavorable prognosisCell lymphomaGene rearrangementsNon-Hodgkin T-cell lymphomaExtent of diseaseLarge lymphoma cellsT-cell lymphomaGene translocationSpecific gene rearrangementsPatient demographicsIntermediate prognosisDismal prognosisImmunohistochemical phenotypeClinical behaviorFavorable outcomeDifferential diagnosisImplant placementSkin lesionsPS1313 FEASIBILITY AND PRELIMINARY RESULTS OF A PROSPECTIVE EVALUATION OF RESIDUAL DISEASE IN DIFFUSE LARGE B‐CELL LYMPHOMAS USING DEEP SEQUENCING OF CELL FREE DNA AND DNA FROM FORMALIN FIXED BIOPSIES
Carniti C, Biancon G, Banfi S, Vella C, Magni M, Pennisi M, Anna D, Guidetti A, Corradini P. PS1313 FEASIBILITY AND PRELIMINARY RESULTS OF A PROSPECTIVE EVALUATION OF RESIDUAL DISEASE IN DIFFUSE LARGE B‐CELL LYMPHOMAS USING DEEP SEQUENCING OF CELL FREE DNA AND DNA FROM FORMALIN FIXED BIOPSIES. HemaSphere 2019, 3: 599-600. DOI: 10.1097/01.hs9.0000563532.69483.ec.Peer-Reviewed Original ResearchCell-free DNADLBCL patientsIgH gene rearrangementTumor burdenResidual diseaseIgH rearrangementsGene rearrangementsDiffuse large B-cell lymphoma patientsLarge B-cell lymphoma patientsB-cell lymphoma patientsDiffuse large B-cell lymphomaLarge B-cell lymphomaPossible disease progressionPossible residual diseaseR-CHOP therapyBaseline plasma samplesLymph node biopsyDisease monitoringImmunoglobulin heavy chain gene rearrangementMultiple myeloma patientsNon-invasive disease monitoringCell lymphoma patientsNumber of patientsFFPE samplesPET-CT scan
2018
ERBB Signaling Interrupted: Targeting Ligand-Induced Pathway Activation
Wilson FH, Politi K. ERBB Signaling Interrupted: Targeting Ligand-Induced Pathway Activation. Cancer Discovery 2018, 8: 676-678. PMID: 29858224, PMCID: PMC6330656, DOI: 10.1158/2159-8290.cd-18-0368.Commentaries, Editorials and Letters
2017
A FISH assay efficiently screens for BRAF gene rearrangements in pancreatic acinar-type neoplasms
Wang L, Basturk O, Wang J, Benayed R, Middha S, Zehir A, Linkov I, Rao M, Aryeequaye R, Cao L, Chmielecki J, Ross J, Stephens P, Adsay V, Askan G, Balci S, Klimstra D. A FISH assay efficiently screens for BRAF gene rearrangements in pancreatic acinar-type neoplasms. Modern Pathology 2017, 31: 132-140. PMID: 28884748, DOI: 10.1038/modpathol.2017.106.Peer-Reviewed Original ResearchConceptsNext-generation sequencing studiesSequencing studiesNext-generation sequencing-based technologiesFusion partnerNext-generation sequencing-based platformsInhibited MAPK pathway activationFISH assaySequencing-based platformsSequencing-based studiesSequencing-based technologiesNext-generation sequencing-based analysisSequencing-based analysisGene rearrangementsBRAF gene rearrangementsNext-generation sequencingFrequent fusion partnerBRAF fusionsMAPK pathway activationAcinar cell carcinomaBRAF gene fusionsGene fusionsFISH analysisPotential therapeutic targetFISH investigationsCell carcinoma
2016
Disease Monitoring in Multiple Myeloma Patients Using Liquid Biopsy and Next Generation Sequencing of IGH Gene Rearrangements
Gimondi S, Biancon G, Vendramin A, Zaninelli S, Rizzitano S, Malan S, Bermema A, Montefusco V, Carniti C, Corradini P. Disease Monitoring in Multiple Myeloma Patients Using Liquid Biopsy and Next Generation Sequencing of IGH Gene Rearrangements. Blood 2016, 128: 4430. DOI: 10.1182/blood.v128.22.4430.4430.Peer-Reviewed Original ResearchCell-free tumor DNAMinimal residual diseaseIgH gene rearrangementMultiple myeloma patientsTime pointsTumor burdenMyeloma patientsGene rearrangementsLiquid biopsyPlasma samplesInternational Myeloma Working Group Uniform Response CriteriaTime of CRSequential plasma samplesBone marrow infiltrationDisease monitoringResidual tumor burdenNon-invasive strategyImmunoglobulin gene rearrangementsMM ptsPresence of subclonesSpecific clonotypesProgressive diseaseMarrow infiltrationMRD monitoringResidual disease
2013
Identification of EGFR mutation, KRAS mutation, and ALK gene rearrangement in cytological specimens of primary and metastatic lung adenocarcinoma
Cai G, Wong R, Chhieng D, Levy GH, Gettinger SN, Herbst RS, Puchalski JT, Homer RJ, Hui P. Identification of EGFR mutation, KRAS mutation, and ALK gene rearrangement in cytological specimens of primary and metastatic lung adenocarcinoma. Cancer Cytopathology 2013, 121: 500-507. PMID: 23495083, DOI: 10.1002/cncy.21288.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAged, 80 and overAnaplastic Lymphoma KinaseBiomarkers, TumorBone NeoplasmsCytodiagnosisDNA, NeoplasmErbB ReceptorsFeasibility StudiesFemaleGene RearrangementHumansIn Situ Hybridization, FluorescenceLiver NeoplasmsLung NeoplasmsMaleMiddle AgedMutationNeoplasm Recurrence, LocalPrognosisProto-Oncogene ProteinsProto-Oncogene Proteins p21(ras)ras ProteinsReal-Time Polymerase Chain ReactionReceptor Protein-Tyrosine KinasesSoft Tissue NeoplasmsYoung AdultConceptsALK gene rearrangementMetastatic lung adenocarcinomaEGFR mutationsKRAS mutationsMetastatic tumorsEpidermal growth factor receptorLung adenocarcinomaCytological specimensGene rearrangementsMolecular testsMolecular alterationsKirsten rat sarcoma viral oncogene homolog (KRAS) mutationsALK gene rearrangement analysisAnaplastic lymphoma kinase (ALK) gene rearrangementEGFR T790M mutationRat sarcoma viral oncogene homolog mutationsCases of lungT790M mutationImportant therapeutic implicationsFine needle aspiratesGene rearrangement analysisCell block materialGrowth factor receptorRecurrent lungRecurrent adenocarcinoma
2012
Localized epigenetic changes induced by DH recombination restricts recombinase to DJH junctions
Subrahmanyam R, Du H, Ivanova I, Chakraborty T, Ji Y, Zhang Y, Alt FW, Schatz DG, Sen R. Localized epigenetic changes induced by DH recombination restricts recombinase to DJH junctions. Nature Immunology 2012, 13: 1205-1212. PMID: 23104096, PMCID: PMC3685187, DOI: 10.1038/ni.2447.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsB-LymphocytesCell LineChromatinEpigenesis, GeneticGene Rearrangement, B-Lymphocyte, Heavy ChainGenes, Immunoglobulin Heavy ChainHistonesImmunoglobulin Heavy ChainsImmunoglobulin Joining RegionImmunoglobulin Variable RegionMicePrecursor Cells, B-LymphoidRecombinasesRecombination, Genetic
2010
Mechanisms of Pre-B Cell Receptor-Inactivation In Acute Lymphoblastic Leukemia
Duy C, Nowak D, Klemm L, Nahar R, Ng C, Elliott E, Hofmann W, Heisterkamp N, Lowell C, Koeffler P, Muschen M. Mechanisms of Pre-B Cell Receptor-Inactivation In Acute Lymphoblastic Leukemia. Blood 2010, 116: 147. DOI: 10.1182/blood.v116.21.147.147.Peer-Reviewed Original ResearchPre-B cell receptorImmunoglobulin μ chainCell receptor functionCell receptor stimulationTyrosine kinasePAX5 fusion genesSystematic gene expression analysisΜ chainsSplice variantsCell receptorRapid cell cycle arrestExon 16Immunoglobulin gene rearrangementsReceptor functionReceptor signal transductionPre-B cell receptor functionGene rearrangementsGene expression analysisLeukemia cellsDominant-negative waySyk tyrosine kinaseCell cycle arrestPre B cellsSH2 domainMRNA splicing
2009
Development of a Reflex FISH Assay Panel for Lymphoid Neoplasms Resulted Negative by Cytogenetics and Current FISH Panel and Positive by Hematopathology.
Mitter N, Lanno S, Blackson J, Donskoy M, Ehrenpreis R. Development of a Reflex FISH Assay Panel for Lymphoid Neoplasms Resulted Negative by Cytogenetics and Current FISH Panel and Positive by Hematopathology. Blood 2009, 114: 4722. DOI: 10.1182/blood.v114.22.4722.4722.Peer-Reviewed Original ResearchFluorescence in situ hybridization panelAnaplastic large cell lymphomaFluorescence in situ hybridizationLarge cell lymphomaFISH panelLymphoid neoplasmsLoss of heterozygosityLocus-specific probesT cellsCell lymphomaKi-1+ anaplastic large cell lymphomaGene rearrangementsKi-1-positive anaplastic large cell lymphomaSubtype of non-Hodgkin lymphomaFluorescence in situ hybridization studiesNK/T-cell lymphomaT-cell disordersNon-Hodgkin's lymphomaT-cell lymphomaKi-1 antigenPeripheral T cellsProportion of patientsSpecific probesLow percentage of cellsRate of abnormalities
2006
SLP65 deficiency results in perpetual V(D)J recombinase activity in pre-B-lymphoblastic leukemia and B-cell lymphoma cells
Sprangers M, Feldhahn N, Liedtke S, Jumaa H, Siebert R, Müschen M. SLP65 deficiency results in perpetual V(D)J recombinase activity in pre-B-lymphoblastic leukemia and B-cell lymphoma cells. Oncogene 2006, 25: 5180-5186. PMID: 16636677, DOI: 10.1038/sj.onc.1209520.Peer-Reviewed Original ResearchConceptsLymphoblastic leukemiaRecombinase activityRAG1/2 expressionB-cell lineage leukemiaDouble-strand break eventsLymphoma cellsSecondary genetic aberrationsB-cell lymphomaB-cell lymphoma cellsB-lymphoid malignanciesB-cell malignanciesB cell receptorVH gene rearrangementsMalignant progressionLeukemiaFrequent featureGenetic aberrationsGene rearrangementsCells resultsRearrangement activityLineage leukemiaMalignancyVH replacementDeficiencyExpression
2004
The BCR-ABL1 Kinase Interferes with Pre-B Cell Receptor Signal Transduction in B Cell Precursor Leukemia Cells.
Klein F, Feldhahn N, Wernet P, Müschen M. The BCR-ABL1 Kinase Interferes with Pre-B Cell Receptor Signal Transduction in B Cell Precursor Leukemia Cells. Blood 2004, 104: 1894. DOI: 10.1182/blood.v104.11.1894.1894.Peer-Reviewed Original ResearchPre-B cell receptorReceptor signal transductionSignal transductionVH gene rearrangementsBCR-ABL1 kinase activityPre-B cell receptor (pre-BCR) signalsKinase activityGenome-wide gene expressionReceptor engagementSignal transduction cascadeLeukemia cellsCell receptorAntigen receptor engagementReceptor-dependent signal transductionNovel target geneCell receptor signalingBCR-ABL1 kinaseApoptotic cell deathCell receptor signalsGene rearrangementsCell receptor engagementBCR-ABL1B cell receptorImmature B cellsTarget genes
2000
Rare Occurrence of Classical Hodgkin's Disease as a T Cell Lymphoma
Müschen M, Rajewsky K, Bräuninger A, Baur A, Oudejans J, Roers A, Hansmann M, Küppers R. Rare Occurrence of Classical Hodgkin's Disease as a T Cell Lymphoma. Journal Of Experimental Medicine 2000, 191: 387-394. PMID: 10637283, PMCID: PMC2195757, DOI: 10.1084/jem.191.2.387.Peer-Reviewed Original ResearchConceptsTCR beta locusMature B cellsGene rearrangementsCell-associated proteinsLight chain gene rearrangementsClassical Hodgkin's diseaseDJ gene rearrangementsIg gene rearrangementsSingle-cell polymerase chain reactionIgH locusCases of CHDClonal progenyBeta gene rearrangementsT cell receptorT cell moleculesLociGermline configurationCell phenotypeCell moleculesLineage derivationB cellsRS cellsCell receptorImmunoglobulin heavyCell markersT‐gamma gene rearrangement and CMV mononucleosis
Mathew P, Hudnall S, Elghetany M, Payne D. T‐gamma gene rearrangement and CMV mononucleosis. American Journal Of Hematology 2000, 66: 64-66. PMID: 11426498, DOI: 10.1002/1096-8652(200101)66:1<64::aid-ajh1013>3.0.co;2-v.Peer-Reviewed Original ResearchMeSH KeywordsAntibodies, ViralBlood CellsBone Marrow CellsClone CellsCytomegalovirusCytomegalovirus InfectionsDiagnosis, DifferentialFemaleGene Rearrangement, gamma-Chain T-Cell Antigen ReceptorHumansImmunoglobulin MImmunophenotypingInfectious MononucleosisLymphoproliferative DisordersMiddle AgedT-Lymphocyte SubsetsViremiaConceptsT gamma gene rearrangementCMV infectionLymphoproliferative diseaseAcute CMV infectionGene rearrangementsAtypical lymphocytosisCMV mononucleosisCMV viremiaNight sweatsIgM serologyClinical featuresLymphoid aggregatesBlood countPeripheral bloodHemolytic anemiaImmune responseBone marrowWeight lossCytomegalovirusInfectionDiseaseMononucleosisViremiaSplenomegalyLymphocytosis
1999
Induction of Ig light chain gene rearrangement in heavy chain-deficient B cells by activated Ras
Shaw A, Swat W, Davidson L, Alt F. Induction of Ig light chain gene rearrangement in heavy chain-deficient B cells by activated Ras. Proceedings Of The National Academy Of Sciences Of The United States Of America 1999, 96: 2239-2243. PMID: 10051625, PMCID: PMC26767, DOI: 10.1073/pnas.96.5.2239.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceBlastocystB-LymphocytesCell DifferentiationDNA-Binding ProteinsEmbryo, MammalianGene Rearrangement, B-Lymphocyte, Light ChainGenes, ImmunoglobulinImmunoglobulin Heavy ChainsImmunoglobulin kappa-ChainsImmunoglobulin Light ChainsImmunoglobulin Variable RegionKidneyMiceMolecular Sequence Dataras ProteinsRecombinant Fusion ProteinsSignal TransductionSpleenStem CellsTransfectionConceptsRas expressionVariable region gene assemblyEmbryonic stem cellsIg light chain gene rearrangementGene rearrangementsB cell developmentWild-type B cellsB lineage cellsLight chain gene rearrangementsDevelopmental checkpointsHeavy chain geneGene productsGene assemblyExpression constructsB cell differentiationGene expressionBlastocyst complementationIg heavy chain genesCell developmentCell differentiationVariable region genesB cellsDifferentiation potentialLineage cellsChain geneCharacterization of TCR gene rearrangements during adult murine T cell development.
Livák F, Tourigny M, Schatz D, Petrie H. Characterization of TCR gene rearrangements during adult murine T cell development. The Journal Of Immunology 1999, 162: 2575-80. PMID: 10072498, DOI: 10.4049/jimmunol.162.5.2575.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsGene Rearrangement, beta-Chain T-Cell Antigen ReceptorGene Rearrangement, delta-Chain T-Cell Antigen ReceptorGene Rearrangement, gamma-Chain T-Cell Antigen ReceptorGene Rearrangement, T-LymphocyteHyaluronan ReceptorsMiceMice, Inbred C57BLPolymerase Chain ReactionReceptors, Interleukin-2T-LymphocytesConceptsTCRbeta locusTCRdelta locusGammadelta T cell lineagesMurine T cell developmentTCR gene rearrangementsT lineage cellsGene rearrangementsT cell developmentLineage decisionsLocus recombinationLineage commitmentProductive rearrangementsIrreversible commitmentCell lineagesDelta geneMolecular evidenceCell developmentTCRbeta rearrangementsDevelopmental stagesT-cell lineageTCR complexLociLineage cellsLineagesGenes
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply