Article
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
EBioMedicine - 1 Jun 2022
Adema Vera, Palomo Laura, Walter Wencke, Mallo Mar, Hutter Stephan, La Framboise Thomas, Arenillas Leonor, Meggendorfer Manja, Radivoyevitch Tomas, Xicoy Blanca, Pellagatti Andrea, Haferlach Claudia, Boultwood Jacqueline, Kern Wolfgang, Visconte Valeria, Sekeres Mikkael, Barnard John, Haferlach Torsten, Solé Francesc, Maciejewski Jaroslaw P
Abstract excerpt
BACKGROUND: Haploinsufficiency (HI) resulting from deletion of the long arm of chromosome 5 [del(5q)] and the accompanied loss of heterozygosity are likely key pathogenic factors in del(5q) myeloid neoplasia (MN) although the consequences of del(5q) have not been yet clarified. METHODS: Here, we explored mutations, gene expression and clinical phenotypes of 388 del(5q) vs. 841 diploid cases with MN [82%...
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