Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype

BACKGROUND: Mastocytosis associated with germline KIT activating mutations is exceedingly rare. We report the unique clinicopathologic features of a patient with systemic mastocytosis caused by a de novo germline KIT K509I mutation. OBJECTIVES: To investigate the impact of the germline KIT K509I mut...

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Main Authors: Chan, Eunice Ching, Bai, Yun, Kirshenbaum, Arnold. S., Fischer, Elizabeth R., Simakova, Olga, Bandara, Geethani, Scott, Linda M., Wisch, Laura B., Cantave, Daly, Carter, Melody C., Lewis, John C., Noel, Pierre, Maric, Irina, Gilfillan, Alasdair M., Metcalfe, Dean D., Wilson, Todd M.
Format: Artigo
Language:Inglês
Published: 2014
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4125511/
https://ncbi.nlm.nih.gov/pubmed/24582309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2013.12.1090
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