Article
Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia.
Blood cancer journal - 23 Jan 2015
Lasho T L, Finke C M, Zblewski D, Patnaik M, Ketterling R P, Chen D, Hanson C A, Tefferi A, Pardanani A
Abstract excerpt
Although KITD816V occurs universally in adult systemic mastocytosis (SM), the clinical heterogeneity of SM suggests presence of additional phenotype-patterning mutations. Because up to 25% of SM patients have KITD816V-positive eosinophilia, we undertook whole-exome sequencing in a patient with aggressive SM with eosinophilia to identify novel genetic alterations. We conducted sequencing of purified eosinophils...
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