Search results for "E13a2"

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Detection and clinical implications of a novel BCR-ABL1 E12A2 insertion/deletion in a CML patient expressing the E13A2 isoform

2019

Background/Aim: The Philadelphia chromosome is the most frequent cytogenetic abnormality in chronic myelogenous (CML). More than 95% of CML patients are diagnosed with the e13a2 or e14a2 BCR-ABL1 fusion transcripts while, in about 1% of these individuals, the break generates the e1a2 rearrangement. Furthermore, about 5% of CML patients are diagnosed with rare BCR-ABL1 fusion transcripts, such as e19a2, e8a2, e13a3, e14a3, e1a3 and e6a2. However, there is limited evidence concerning the clinical and prognostic implications of these infrequent oncogenic variants for CML patients receiving tyrosine kinase inhibitors (TKIs). Case Report: We describe a novel atypical e12a2 insertion/deletion (In…

MaleCancer Researchbcr-ablFusion Proteins bcr-ablBCR-ABL1; CML; E12a2; E13a2; Nilotinib; Ponatinib; TKIs; Antineoplastic Combined Chemotherapy Protocols; Fusion Proteins bcr-abl; Humans; INDEL Mutation; Imidazoles; Leukemia Myelogenous Chronic BCR-ABL Positive; Male; Middle Aged; Protein Isoforms; Pyridazines; Pyrimidines; Treatment Outcomechemistry.chemical_compoundExon0302 clinical medicineINDEL Mutationhemic and lymphatic diseasesAntineoplastic Combined Chemotherapy ProtocolsProtein IsoformsChronicCMLLeukemiaPonatinibImidazolesGeneral MedicineMiddle AgedTKIPyridazinesTreatment OutcomeOncology030220 oncology & carcinogenesisPonatinibPyridazineTyrosine kinaseINDEL MutationE13a2Humanmedicine.drugPhiladelphia chromosome03 medical and health sciencesMyelogenousLeukemia Myelogenous Chronic BCR-ABL PositivemedicineHumansImidazoleAntineoplastic Combined Chemotherapy Protocolbusiness.industryBreakpointProtein IsoformFusion Proteinsmedicine.diseaseNilotinibBCR-ABL1PyrimidinesPyrimidinechemistryNilotinibTKIsCancer researchBCR-ABL PositivebusinessE12a2Myelogenous
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