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Article

New somatic BRAF splicing mutation in Langerhans cell histiocytosis

5 Jul 2017

Abstract excerpt

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with constitutive activation of the MAPKinase RAS-RAF-MEK-ERK cell signaling pathway. We analyzed 9 LCH cases without BRAF V600 and MAP2K1 mutations by whole exome sequencing. We identified a new somatic BRAF splicing mutation in 2 cases. Both cases were childhood single system (SS) LCH cases, with self-healing outcome of the bone lesions....

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PMID: 28679432
DOI: 10.1186/s12943-017-0690-z

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