Sustained, complete response to pexidartinib in a patient with CSF1R-mutated Erdheim-Chester disease.

doi:10.1002/ajh.26441

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Article

Sustained, complete response to pexidartinib in a patient with CSF1R-mutated Erdheim-Chester disease.

American journal of hematology - 1 Mar 2022

Abeykoon Jithma P, Lasho Terra L, Dasari Surendra, Rech Karen L, Ranatunga Wasantha K, Manske Michelle K, Tischer Alexander, Ravindran Aishwarya, Young Jason R, Tobin William Oliver, Flanagan Eoin P, Nowakowski Kevin E, Ruan Gordon J, Shah Mithun V, Bennani Nabila Nora, Vassallo Robert, Ryu Jay H, Koster Matthew J, Davidge-Pitts Caroline J, Patnaik Mrinal M, Wu Xiaosheng, Witzig Thomas E, Goyal Gaurav, Go Ronald S

Abstract excerpt

Erdheim-Chester disease (ECD) is a histiocytic neoplasm that predominantly harbors mitogen-activated protein kinase (MAPK) pathway variants. MAPK inhibitors typically are effective treatments, but mutations outside the MAPK pathway, such as CSF1R variants, may cause refractory ECD. We describe a patient with a novel somatic mutation in CSF1R (CSF1RR549_E554delinsQ ) that resulted in refractory ECD affecting the...

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PMID: 34978715
DOI: 10.1002/ajh.26441
PMCID: PMC9536810

Genes

CSF1R
ECD

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