Disease characteristics, treatment, and outcomes for patients with high-risk clonal evolution in both groups
| UPN . | Age . | Days to clonal evolution . | Cytogenetics . | WHO diagnosis . | Treatment . | Outcome . |
|---|---|---|---|---|---|---|
| EPAG-IST Group | ||||||
| E4 | 41 | 1841 | Normal | MDS/MPN | Pursuing BMT* | Alive |
| E9 | 54 | 91 | t(3;3)(q21;q26),-7[3/17] | MDS-EB1 | BMT | Dead |
| E18 | 69 | 908 | −7[20/20] | MDS-MLD | Supportive | Dead |
| E35 | 59 | 1881 | -Y[7/10] | MDS-EB1 | BMT | Alive |
| E40 | 48 | 187 | del(7) (p13p15)[3/22] | Cyto only† | BMT | Alive |
| E65 | 60 | 182 | −7[7/23] | MDS-MLD | Supportive | Alive |
| E78 | 16 | 8 | −7 [6/20] | Cyto only† | BMT | Alive |
| E124 | 73 | 1091 | −7[3/20] | MDS-SLD | Supportive | Alive |
| E128 | 57 | 181 | del(7)(p13)[3/17] | Cyto only† | BMT | Alive |
| E147 | 26 | 186 | inv(7)(q21q31)[5/15] | Cyto only† | BMT | Alive |
| E174 | 8 | 105 | −7[12/20] | MDS-SLD | BMT | Dead |
| Historic IST Group | ||||||
| H4 | 67 | 1089 | −7[5/5] | MDS-EB1 | Supportive | Dead |
| H13 | 65 | 1224 | −7[6]/idem,t(3;21)(q26;q22)[14] | MDS-MLD | Azacytidine | Dead |
| H17 | 36 | 2338 | Normal | AML | BMT | Alive |
| H19 | 19 | 2528 | Normal | AML | BMT | Alive |
| H21 | 80 | 866 | del13q[14/20]/-7[5/20] | MDS-MLD | NA‡ | Dead |
| H29 | 75 | 685 | Complex | Cyto only† | NA‡ | Dead |
| H45 | 23 | 730 | t(12;13)(p12;q13)[4/16]/ idem,-7[7/16] | MDS-EB1 | Azacytidine | Dead |
| H46 | 44 | 1545 | −7[20/20] | MDS-MLD | BMT | Alive |
| H66 | 52 | 769 | −7[6/23] | MDS-MLD | NA‡ | Alive |
| H74 | 60 | 784 | −7[4/20] | MDS-EB1 | Supportive | Dead |
| H76 | 57 | 92 | Normal | AML | BMT | Dead |
| H87 | 27 | 756 | −7[9/20] | MDS-MLD | NA‡ | Alive |
| UPN . | Age . | Days to clonal evolution . | Cytogenetics . | WHO diagnosis . | Treatment . | Outcome . |
|---|---|---|---|---|---|---|
| EPAG-IST Group | ||||||
| E4 | 41 | 1841 | Normal | MDS/MPN | Pursuing BMT* | Alive |
| E9 | 54 | 91 | t(3;3)(q21;q26),-7[3/17] | MDS-EB1 | BMT | Dead |
| E18 | 69 | 908 | −7[20/20] | MDS-MLD | Supportive | Dead |
| E35 | 59 | 1881 | -Y[7/10] | MDS-EB1 | BMT | Alive |
| E40 | 48 | 187 | del(7) (p13p15)[3/22] | Cyto only† | BMT | Alive |
| E65 | 60 | 182 | −7[7/23] | MDS-MLD | Supportive | Alive |
| E78 | 16 | 8 | −7 [6/20] | Cyto only† | BMT | Alive |
| E124 | 73 | 1091 | −7[3/20] | MDS-SLD | Supportive | Alive |
| E128 | 57 | 181 | del(7)(p13)[3/17] | Cyto only† | BMT | Alive |
| E147 | 26 | 186 | inv(7)(q21q31)[5/15] | Cyto only† | BMT | Alive |
| E174 | 8 | 105 | −7[12/20] | MDS-SLD | BMT | Dead |
| Historic IST Group | ||||||
| H4 | 67 | 1089 | −7[5/5] | MDS-EB1 | Supportive | Dead |
| H13 | 65 | 1224 | −7[6]/idem,t(3;21)(q26;q22)[14] | MDS-MLD | Azacytidine | Dead |
| H17 | 36 | 2338 | Normal | AML | BMT | Alive |
| H19 | 19 | 2528 | Normal | AML | BMT | Alive |
| H21 | 80 | 866 | del13q[14/20]/-7[5/20] | MDS-MLD | NA‡ | Dead |
| H29 | 75 | 685 | Complex | Cyto only† | NA‡ | Dead |
| H45 | 23 | 730 | t(12;13)(p12;q13)[4/16]/ idem,-7[7/16] | MDS-EB1 | Azacytidine | Dead |
| H46 | 44 | 1545 | −7[20/20] | MDS-MLD | BMT | Alive |
| H66 | 52 | 769 | −7[6/23] | MDS-MLD | NA‡ | Alive |
| H74 | 60 | 784 | −7[4/20] | MDS-EB1 | Supportive | Dead |
| H76 | 57 | 92 | Normal | AML | BMT | Dead |
| H87 | 27 | 756 | −7[9/20] | MDS-MLD | NA‡ | Alive |
UPN-H21 and UPN-H46 had low-risk clonal evolution with acquisition of deletion 13q prior to monosomy 7. UPN H45 had low-risk evolution with acquisition of t(12;13) and then progressed to monosomy 7.
Cyto only, met criteria for MDS based on MDS defining cytogenetic (monosomy 7); EB1, excess blast-1; MLD, multi-lineage dysplasia; MPN, myeloproliferative neoplasm; SLD, single lineage dysplasia; UPN, unique patient number; WHO, World Health Organization.
UPN-E4 was initially managed expectantly because of mild cytopenia, but 2 years after the initial MDS/MPN diagnosis, patient had worsening cytopenia and received treatment with azacytidine + venetoclax as a bridge to transplant.
Cyto only indicates MDS-U diagnosis based on qualifying cytogenetics without dysplasia or increased blast percentage.
Subjects did not have BMT after clonal evolution, but it is not known whether they had medical treatment.