Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia
نویسندگان
چکیده
منابع مشابه
Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia.
Severe congenital neutropenia (SCN) is a BM failure syndrome with a high risk of progression to acute myeloid leukemia (AML). The underlying genetic changes involved in SCN evolution to AML are largely unknown. We obtained serial hematopoietic samples from an SCN patient who developed AML 17 years after the initiation of G-CSF treatment. Next- generation sequencing was performed to identify mut...
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Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe neutropenia, e.g. ELANE, HAX1 and G6PC3. Although congenital neutropenia is considered to be a group of monogenic disorders, the phenotypic heterogeneity even within the yet defined genetic subtypes points to additional genetic and/or epigen...
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ژورنال
عنوان ژورنال: Blood
سال: 2012
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2012-01-406116