부산대학교 도서관

Monosomy 7 [-7] and/or partial loss of chromosome 7 [del(7q)] are associated with poor and intermediate prognosis, respectively, in myelodysplastic syndromes (MDS), but somatic mutations may also play a key complementary role. We analyzed the impact on the outcomes of deep targeted mutational screening in 280 MDS patients with -7/del(7q) as isolated cytogenetic abnormality (86 with del(7q) and 194 with -7). Patients with del(7q) or -7 had similar demographic and disease-related characteristics. Somatic mutations were detected in 79% (93/117) of patients (82% in -7 and 73% in del(7q) group). Median number of mutations per patient was 2 (range 0-8). There was no difference in mutation frequency between the two groups. Patients harbouring [greater than or equal to]2 mutations had a worse outcome than patients with
Author(s): Elena Crisà [sup.1] [sup.2] [sup.3], Austin G. Kulasekararaj [sup.1], Vera Adema [sup.4] [sup.5], Esperanza Such [sup.6] [sup.7], Julie Schanz [sup.8], Detlef Haase [sup.8], Katayoon Shirneshan [sup.8], Steven Best [sup.9], [...]