Table 3.
Mutation Pattern at Disease Relapse After Transplantation in Patients With Myelodysplastic Syndromes and Acute Myeloid Leukemia Evolving From Myelodysplastic Syndromes
| Patient | WHO Category (before HSCT) | Founding Clone (before HSCT) | Clonal Evolution (disease relapse) | Comparison of New Mutations Not Detected Before HSCT |
|---|---|---|---|---|
| GITMO 1 | RAEB-2 | PTPN11 | Founder clone recurs | Yes |
| GITMO 2 | MDS/AML | NPM1 | Founder clone recurs | Yes |
| GITMO 3 | RAEB-1 | RUNX1 | Founder clone recurs | Yes |
| GITMO 4 | RAEB-2 | DNMT3A | A subclone expands (IDH1) | Yes |
| GITMO 5 | RAEB-1 | STAG2 | Founder clone recurs | Yes |
| GITMO 6 | MDS/AML | SRSF2 | Founder clone recurs | Yes |
| GITMO 7 | RAEB-2 | EZH2 | A subclone expands (RUNX1) | Yes |
| GITMO 8 | RCMD | SRSF2 | Founder clone recurs | Yes |
| GITMO 9 | RAEB-2 | SRSF2 | Founder clone recurs | Yes |
Abbreviations: GITMO, Gruppo Italiano Trapianto di Midollo Osseo; HSCT, hematopoietic stem-cell transplantation; MDS, myelodysplastic syndromes; MDS/AML, acute myeloid leukemia evolving from MDS; RAEB-1, refractory anemia with excess blasts-1; RAEB-2, refractory anemia with excess blasts-2; RCMD, refractory cytopenia with multilineage dysplasia.