Table 2.
Clinical characteristics and outcomes of patients with GATA2 mutations that underwent allogeneic stem cell transplantation
| No. | Diagnosis Age/Sex | Cytogenetics/GATA2 mutation | Associated features | Prior Rx | HCT-CI | CMV | Regimen | ABO/HLA | GVHD Prop | aGVHD Status | Complications | Day 30 Chimerism /Marrow | Day 100 Chimerism /Marrow | Last follow up (Days) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | AML 38/M |
46,XY, t(1;21) [9] +8[4]46,XY [7] S447R |
NK/B-cell def Viral warts Hydrocele |
Idarubicin Cytarabine | 0 | D+ R+ |
Fludarabine TBI (200) | ABO− mismatch HLA 9/10 | Tacrolimus MTX |
GI Grade 1 |
E.Faecalis CMV Anti-platelet antibodies/Thrombocytopenia |
100% Donor 30% Hypo- Cellular |
100% Donor 30% Hypo- Cellular |
356 (extra medullary relapse day 307) |
| 2 | MDS 35/F |
S447R | NK/B-cell def Viral warts Infertility |
None | 0 | D− R+ |
Busulfan Cytoxan |
ABO− match HLA 10/10 |
Tacrolimus MTX |
Skin Grade 1 |
CMV | 100% Donor 30% Hypocellular |
100% Donor 60% Hypocellular |
208 |
| 3 | MDS 10/F |
S447R | NK/B-cell def Viral warts |
None | 0 | D− R+ |
Cytoxan, TBI Alemtuzumab |
ABO− match HLA 9/10 |
Tacrolimus MTX |
Skin Grade 1 |
C.difficile | 100% Donor 30% Hypo- Cellular |
100% Donor 20% Hypo- Cellular |
247 |
| 4 | Chronic Neutropenia 7/M |
S447R | NK/B cell def Viral warts Emberger's syndrome Pulmonary stenosis |
None | 0 | D− R+ |
Cytoxan, TBI Alemtuzumab |
ABO− match HLA 10/10 |
Tacrolimus | – | – | Pending 30% Hypo cellular |
NA | 31 |
MDS, myelodysplastic syndrome; AML, acute myeloid leukemia.