Publications by authors named "Lucie Coster"
Article Synopsis
- - Bone marrow failure syndromes are rare conditions that lead to low cell production in the bone marrow, causing low blood cell counts, with aplastic anemia being the most common form associated with autoimmune issues and linked to other conditions like paroxysmal nocturnal hemoglobinuria.
- - Inherited bone marrow failure syndromes are caused by genetic variants, notably GATA2 deficiency and SAMD9/9L syndromes, and other variants affecting processes like DNA repair can lead to major disorders like Fanconi anemia and Diamond-Blackfan anemia.
- - The text highlights the risk of these syndromes progressing to more severe conditions like myelodysplastic neoplasms or acute myeloid leukemia and emphasizes the importance of cytogenetic abnormalities
Myelodysplastic syndromes (MDS) are hematological malignancies classically defined by the presence of cytopenia(s) and dysmorphic myeloid cells. It is now known that MDS can be preceded by a pre-malignant condition called clonal cytopenia of unknown significance (CCUS), which associates a clonality marker with cytopenia in the absence of criteria of dysplasia. However, to date, it is not clear whether chromosomal abnormalities should be considered in the definition of CCUS or if they carry a prognostic impact in CCUS patients.
View Article and Find Full Text PDFPAX5-ELN oncoprotein promotes multistep B-cell acute lymphoblastic leukemia in mice.
Proc Natl Acad Sci U S A
October 2018
is a well-known haploinsufficient tumor suppressor gene in human B-cell precursor acute lymphoblastic leukemia (B-ALL) and is involved in various chromosomal translocations that fuse a part of PAX5 with other partners. However, the role of PAX5 fusion proteins in B-ALL initiation and transformation is ill-known. We previously reported a new recurrent t(7;9)(q11;p13) chromosomal translocation in human B-ALL that juxtaposed to the coding sequence of elastin ().
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