Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia
نویسندگان
چکیده
منابع مشابه
Significance of neutrophil elastase mutations versus G-CSF receptor mutations for leukemic progression of congenital neutropenia.
receiving bone marrow from unrelated donors followed by an intensified GVHD prophylaxis showed CMV PCR positivity even sooner after transplantation, but again PCR-based antiviral therapy was found to be safe with only 1 patient developing early fatal CMV disease as already reported previously.2 But this group seemed to be at an increased risk for late onset CMV disease most likely due to a dela...
متن کاملDigenic mutations in severe congenital neutropenia.
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...
متن کاملStem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation.
Severe congenital neutropenia (CN) (Kostmann syndrome) is a hematologic disorder characterized by a maturation arrest of myelopoiesis at the promyelocyte/myelocyte stage of development. This arrest results in severe neutropenia leading to absolute neutrophil counts (ANC) below 0.2 x 10(9)/L associated with severe bacterial infections from early infancy. Data on over 300 patients with CN collect...
متن کاملMalignant myeloid transformation in a child with severe congenital neutropenia (Kostmann's syndrome).
We report a case of a child with severe congenital neutropenia (Kostmann's syndrome) who was treated with daily prophylactic subcutaneous granulocyte colony-stimulating factor (G-CSF) from the age of eight to sixteen years before being discontinued for poor haematological and clinical response. She did not have a HLA-matched sibling to enable bone marrow transplantation. She subsequently develo...
متن کاملMalignant myeloid transformation in congenital forms of neutropenia.
BACKGROUND Granulocyte colony-stimulating factor has had a major impact on the management of severe chronic neutropenia--a collective term referring to congenital, idiopathic, or cyclic neutropenia. Almost all patients respond to G-CSF with increased neutrophils, reduced infections, and improved survival. Some responders with congenital neutropenia (termed Kostmann's syndrome herein) and Shwach...
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ژورنال
عنوان ژورنال: Cell Reports Medicine
سال: 2020
ISSN: 2666-3791
DOI: 10.1016/j.xcrm.2020.100074