Table 1.
MDS/sAML Patients with C-CBL Mutations.
Patient No. | Age (Year)/Sex | WHO Subtype | Marrow Blasts (%) | Cytogenetics at MDS | C-CBL Amino Acid Change | IPSS | Time to AML (Months) | Survival from MDS (Months) | |
MDS/sAML | MDS | sAML | |||||||
001 | 70/F | RAEB-1/sAML | 5.5/71.7 | NA | - | Y371S | >1.0 | 3.5 | 3.9 |
010 | 48/F | RAEB-2/sAML | 17.0/32.2 | 46,XX,dup(1)(q21q32)[28/28] | - | F418S | 2.5 | 5.3 | 28.1 |
032 | 72/M | RAEB-2/sAML | 16.6/79.0 | 46,XY,-5,-8,-9,add(11)(q25), t(12;18)(p11;p11),-17,+4mar[6/20] | - | L370_Y371 ins L | 3.0 | 2.2 | 3.3 |
109 | 22/M | RCMD/sAML | 1.4/35.2 | NA | - | L399V | ≥0.5 | 7.0 | 7.6 |
119 | 54/F | RCMD/sAML | 5.0/59.0 | NA | G415S | G415S | 1.0 | 22.3 | 25.2 |
125 | 64/F | RAEB-1/sAML | 8.5/45.8 | 45,XX,-7[22/26]/46,XX[4/26] | - | C416W | 1.5 | 14.9 | 23.8+ |
F indicates female; M, male; NA, not available; WHO, World Health Organization.