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|Title: ||Alterazioni del gene NPM nelle mielodisplasie con delezione 5q-|
|Other Titles: ||NPM1 abnormalities in myelodysplastic syndrome with chromosome 5 deletion|
|Authors: ||Lo Coco, Francesco|
|Issue Date: ||21-Sep-2009 |
|Abstract: ||Myelodysplastic syndromes (MDS) include a heterogeneous group of disease characterized by dysplasia of one or more bone marrow cell lineages, usually with prominent ineffective erythropoiesis and genomic instability leading to anaemia and enhanced risk to transformation to secondary acute myeloid leukemia (AML) . Thus MDS is often diagnosed on the basis of chronic macrocytic anaemia accompanied or not by leukocytopenia and/or thrombocytopenia. The deletion of 5q (5q-) is a frequent clonal chromosomal abnormality in patients with MDS. MDS with 5q- as a sole chromosome alteration is characterized by isolated anaemia, elevated platelet count and a favourable prognosis when compared to other forms of MDS . When the 5q- accompanies additional chromosome defects, it leads to poor-risk karyotypes with dramatically different prognostic features .
NPM1 is a versatile nuclear phosphoprotein that plays multiple roles in ribosome biogenesis and transport, cytoplasmic-nuclear trafficking, centro...|
|Description: ||20. ciclo|
|Appears in Collections:||Tesi di dottorato in medicina|
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