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Publikováno v:
Blood. 120:3789-3789
Abstract 3789 Introduction: Recently, genes affecting the splicing machinery have been found to be frequently mutated in MDS patients. The U2AF1 gene codes for one of these splicing components, showing two distinct mutational hot spots at amino acids
Publikováno v:
Blood. 101:822-826
Fanconi anemia (FA) is an autosomal recessive condition associated with congenital abnormalities, progressive pancytopenia, and a predisposition to leukemia and solid tumors. We studied a retrospective cohort of North American patients with FA. We ca
Autor:
Christiane Eder, Torsten Haferlach, Susanne Schnittger, Alexander Kohlmann, Wolfgang Kern, Frank Dicker, Tamara Alpermann, Claudia Haferlach
Publikováno v:
Blood. 122:51-51
Background NPM1 mutations (NPM1mut) are known to be prognostically favorable in the absence of FLT3-ITD. About 80% of patients (pts) have previously been shown to carry a distinct NPM1mut (“type A”). The remaining NPM1mut pts show various rare mu