Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma.
Publication/Presentation Date
7-11-2017
Abstract
Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder that is usually benign and self-limiting. We present a case of atypical, aggressive JXG harboring a novel mitogen-activated protein kinase (MAPK) pathway mutation in the MAPK1 gene, which encodes mitogen-activated protein kinase 1 or extracellular signal-regulated 2 (ERK2). Our analysis revealed that the mutation results in constitutive ERK activation that is resistant to BRAF or MEK inhibitors but susceptible to an ERK inhibitor. These data highlight the importance of identifying specific MAPK pathway alterations as part of the diagnostic workup for patients with histiocytic disorders rather than initiating empiric treatment with MEK inhibitors.
Volume
8
Issue
28
First Page
46065
Last Page
46070
ISSN
1949-2553
Published In/Presented At
Chakraborty, R., Hampton, O. A., Abhyankar, H., Zinn, D. J., Grimes, A., Skull, B., … Parsons, D. W. (2017). Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma. Oncotarget, 8(28), 46065–46070. https://doi.org/10.18632/oncotarget.17521
Disciplines
Medicine and Health Sciences | Oncology | Pediatrics
PubMedID
28512266
Peer Reviewed for front end display
Peer-Reviewed
Department(s)
Department of Pediatrics
Document Type
Article