Grzegorz Pietka, Corinne De Lord, Gwynn Matthias, Betty Cheung, Sangeeta Atwal, Michelle Furtado, Jonathan Cullis, Liz Grey-Davies, Srinivasan Narayanan, Andrew McGregor, Mari Kilner, Jenny Bosworth, Mary Frances McMullin, Thomas Coats, Agapi Parcharidou, Jamie Cavenagh, Jenny Byrne, Sunil Iyengar, Kabir Mohammed, Nicholas Cross, Mike Hubank, Sara Ribeiro, Jamshid Khorashad, Dorte Wren, Simon O'Connor, David Taussig
We report on a study of next-generation sequencing in 257 patients undergoing investigations for cytopenias. We sequenced bone marrow aspirates using a target enrichment panel comprising 82 genes and used T cells from paired blood as a control. One hundred and sixty patients had idiopathic cytopenias, 81 had myeloid malignancies and 16 had lymphoid malignancies or other diagnoses. Forty-seven of the 160 patients with idiopathic cytopenias had evidence of somatic pathogenic variants consistent with clonal cytopenias...
March 11, 2024: British Journal of Haematology