Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma
نویسندگان
چکیده
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.
منابع مشابه
Symmetrical giant facial plaque-type juvenile xanthogranuloma persisting beyond 10 years of age.
© 2014 The Authors. doi: 10.2340/00015555-1712 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555 Juvenile xanthogranuloma (JXG) is a non-Langerhans histiocytosis occurring predominantly in infancy and early childhood. Resolution usually occurs over a period of months to several years, and it is rare for the condition to persist beyond late childhood (1). The symmetrical gian...
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عنوان ژورنال:
دوره 8 شماره
صفحات -
تاریخ انتشار 2017