{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chen JA"],"funding":["NCI NIH HHS"],"pagination":["3492-3496"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8525236"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["5(17)"],"pubmed_abstract":["The basis for acquired resistance to JAK inhibition in patients with JAK2-driven hematologic malignancies is not well understood. We report a patient with a myeloproliferative neoplasm (MPN) with a BCR activator of RhoGEF and GTPase (BCR)-JAK2 fusion with initial hematologic response to ruxolitinib who rapidly developed B-lymphoid blast transformation. We analyzed pre-ruxolitinib and blast transformation samples using genome sequencing, DNA mate-pair sequencing (MPseq), RNA sequencing (RNA-seq), and chromosomal microarray to characterize possible mechanisms of resistance. No resistance mutations in the BCR-JAK2 fusion gene or transcript were identified, and fusion transcript expression levels remained stable. However, at the time of blast transformation, MPseq detected a new IKZF1 copy-num"],"journal":["Blood advances"],"pubmed_title":["Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistance."],"pmcid":["PMC8525236"],"funding_grant_id":["P30 CA008748"],"pubmed_authors":["Baughn LB","Ohgami RS","Pitel BA","Roskin KM","Ewalt MD","Montgomery SB","Cherry AM","Hou Y","Pearce KE","Arber DA","Merker JD","Chen JA","Fire AZ","Kearney HM","Bangs CD","Fresard L","Gotlib J"],"additional_accession":[]},"is_claimable":false,"name":"Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistance.","description":"The basis for acquired resistance to JAK inhibition in patients with JAK2-driven hematologic malignancies is not well understood. We report a patient with a myeloproliferative neoplasm (MPN) with a BCR activator of RhoGEF and GTPase (BCR)-JAK2 fusion with initial hematologic response to ruxolitinib who rapidly developed B-lymphoid blast transformation. We analyzed pre-ruxolitinib and blast transformation samples using genome sequencing, DNA mate-pair sequencing (MPseq), RNA sequencing (RNA-seq), and chromosomal microarray to characterize possible mechanisms of resistance. No resistance mutations in the BCR-JAK2 fusion gene or transcript were identified, and fusion transcript expression levels remained stable. However, at the time of blast transformation, MPseq detected a new IKZF1 copy-num","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Sep","modification":"2026-03-17T15:17:49.692Z","creation":"2025-04-07T04:59:03.403Z"},"accession":"S-EPMC8525236","cross_references":{"pubmed":["34505882"],"doi":["10.1182/bloodadvances.2020004174"]}}