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

Oncotarget
Rikhia ChakrabortyD Williams Parsons

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.

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Citations

Jan 18, 2018·Journal of the European Academy of Dermatology and Venereology : JEADV·C M LuderR Dummer
May 10, 2020·Pediatric Blood & Cancer·Miho MaedaUNKNOWN Histiocytosis Study Group of the Japanese Society of Pediatric Hematology/Oncology
Apr 3, 2018·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Alejandro A Gru, Louis P Dehner
Jul 1, 2020·Cold Spring Harbor Perspectives in Medicine·Rikhia ChakrabortyBenjamin H Durham

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Methods Mentioned

BETA
biopsy
exome sequencing
PCR
nuclear translocation
transfection

Software Mentioned

Swiss
PdbViewer
HGSC
MODEL

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