Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma.

TitleActivating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma.
Publication TypeJournal Article
Year of Publication2017
AuthorsChakraborty, R, Hampton, OA, Abhyankar, H, Zinn, DJ, Grimes, A, Skull, B, Eckstein, O, Mahmood, N, Wheeler, DA, López-Terrada, D, Peters, TL, Hicks, JM, Elghetany, T, Krance, R, Poulikakos, PI, Merad, M, McClain, KL, Allen, CE, Parsons, DW
JournalOncotarget
Date Published2017 04 29
ISSN1949-2553
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.

DOI10.18632/oncotarget.17521
Alternate JournalOncotarget
PubMed ID28512266