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dc.contributor.authorAzorsa, David O
dc.contributor.authorLee, David W
dc.contributor.authorWai, Daniel H
dc.contributor.authorBista, Ranjan
dc.contributor.authorPatel, Apurvi R
dc.contributor.authorAleem, Eiman
dc.contributor.authorHenry, Michael M
dc.contributor.authorArceci, Robert J
dc.date.accessioned2019-03-12T01:14:12Z
dc.date.available2019-03-12T01:14:12Z
dc.date.issued2018-09-01
dc.identifier.citationAzorsa, D. O., Lee, D. W., Wai, D. H., Bista, R., Patel, A. R., Aleem, E., ... & Arceci, R. J. (2018). Clinical resistance associated with a novel MAP2K1 mutation in a patient with Langerhans cell histiocytosis. Pediatric blood & cancer, 65(9), e27237.en_US
dc.identifier.issn1545-5017
dc.identifier.pmid29768711
dc.identifier.doi10.1002/pbc.27237
dc.identifier.urihttp://hdl.handle.net/10150/631834
dc.description.abstractPatients with Langerhans cell histiocytosis (LCH) harbor BRAF V600E and activating mutations of MAP2K1/MEK1 in 50% and 25% of cases, respectively. We evaluated a patient with treatment-refractory LCH for mutations in the RAS-RAF-MEK-ERK pathway and identified a novel mutation in the MAP2K1 gene resulting in a p.L98_K104 > Q deletion and predicted to be auto-activating. During treatment with the MEK inhibitor trametinib, the patient's disease showed significant progression. In vitro characterization of the MAP2K1 p.L98_K104 > Q deletion confirmed its effect on cellular activation of the ERK pathway and drug resistance.en_US
dc.description.sponsorshipSharon D. Lund Foundation; University of Arizona COM-P Department of Child Health Mission Support; Phoenix Children's Hospital Foundationen_US
dc.language.isoenen_US
dc.publisherWiley Periodicalsen_US
dc.relation.urlhttps://onlinelibrary.wiley.com/doi/full/10.1002/pbc.27237en_US
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pubmed/29768711en_US
dc.rights©2018 Wiley Periodicals, Inc.en_US
dc.subjectLangerhans cell histiocytosisen_US
dc.subjectMAP2K1en_US
dc.subjectmutationen_US
dc.titleClinical resistance associated with a novel MAP2K1 mutation in a patient with Langerhans cell histiocytosisen_US
dc.typeArticleen_US
dc.contributor.departmentUniversity of Arizona College of Medicine - Phoenixen_US
dc.identifier.journalPediatric Blood & Canceren_US
dc.description.note12 month embargo; first published: 16 May 2018en_US
dc.description.collectioninformationThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu.en_US
dc.eprint.versionFinal accepted manuscripten_US
dc.source.journaltitlePediatric blood & cancer


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