Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nat Med. 2019 Dec;25(12):1839-1842. Epub 2019 Nov 25

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Histiocytoses are clonal hematopoietic disorders frequently driven by mutations mapping to the BRAF and MEK1 and MEK2 kinases. Currently, however, the developmental origins of histiocytoses in patients are not well understood, and clinically meaningful therapeutic targets outside of BRAF and MEK are undefined. In this study, we uncovered activating mutations in CSF1R and rearrangements in RET and ALK that conferred dramatic responses to selective inhibition of RET (selpercatinib) and crizotinib, respectively, in patients with histiocytosis.

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Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

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