Title

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

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

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