Table 4.
GATA2 deficiency and undefined bone marrow failure
| PRE-HCT CHARACTERISTICS | PATIENT #12 | PATIENT #13 | PATIENT #14 |
|---|---|---|---|
| Age at diagnosis/at HCT (yr) | 12.5 / 16.8 | 11.4 / 15.1 | 4.7 / 5.6 |
| Patient sex | Female | Male | Male |
| Genetic mutation | GATA2 Heterozygous: c.1082G>A/G (p.R361H) | GATA2 Heterozygous: c.1072_1074delACC (p.T358del) | None |
| Clinical features | Hashimoto’s thyroiditis, primary EBV | Viral warts | − |
| Iron | |||
| Ferritin ng/mL | 929 | 42 | 550 |
| T2* MRI‡ | Hepatic: 5.11 Myocardial: 36.39 | ND | Hepatic: 9.1–10.1 Myocardial: 33.7–34.2 |
| Augmented HCT/CI | 1 | 0 | 1 |
| Peripheral blood counts | |||
| ANC (cells/µL) | 470 | 187 | 250 |
| Hematocrit | 22% | 33.8% | 25% |
| Platelet count (cells/µL) | 87,000 | 105,000 | 16,000 |
| Transfusion dependent | Yes (pRBC) | No | Yes (pRBC and platelets) |
| Bone marrow evaluation | |||
| Cellularity | Average 40% | Average 40–50% | 40% |
| Cytogenetics / FISH | Normal/+8 (1.6%) | Normal/Normal | Normal/Normal |
| Indication for HCT | Cytopenias, pRBC transfusion dependent, Trisomy 8 (1.6%) | Cytopenias | Cytopenias, pRBC and platelet transfusion dependent |
| HCT Characteristics and Outcomes | |||
| Donor / Stem cell source | MRD/marrow | MURD/marrow | MURD/marrow |
| Follow-up (yr) | Alive, 2.6 | Alive, 0.5 | Alive, 2.4 |
| Donor chimerism (CD3+/CD33+)† | 100%/100% | 99%/100% | 100%/100% |
| GVHD§ | |||
| Acute/Chronic (Yes/No) | Yes/No | Yes/No | Yes/No |
| Day Immune Suppression Stopped | 285 | Still on | 347 |
| Peripheral blood counts† | |||
| ANC (cells/µL) | 4000 | 3519 | 1860 |
| Hematocrit | 41% | 32% | 39% |
| Platelet Count (cells/µL) | 165,000 | 163,000 | 216,000 |
| Bone marrow evaluation† | |||
| Cellularity | 40%-50% | ND | 65% |
| Cytogenetics / FISH | Normal/No evidence of Trisomy 8 | ND/ND | Normal/ND |
| Disease response | Normal blood counts, Transfusion independent, Normal marrow cytogenetics | Resolution of neutropenia and thrombocytopenia, Transfusion independent | Normal blood counts, Transfusion independent |
†
at last time point studied;
‡
mg Iron/g dry weight hepatic tissue, Myocardial: msec;
§
Acute grade II–IV GVHD, delayed acute GVHD or NIH chronic GVHD
Abbreviations: HCT, hematopoietic cell transplantation; HCT-CI, hematopoietic cell transplantation comorbidity index; MSD, matched related donor; MURD, matched unrelated donor; ND, not done; pRBC, packed red blood cells; R, recipient; yr, years