Table 1.
Shwachman Diamond syndrome
| PRE-HCT CHARACTERISTICS | PATIENT #1 | PATIENT #2 | PATIENT #3 |
|---|---|---|---|
| Age at diagnosis /at HCT (yr) | 12 / 19.4 | 6 / 7.2 | 0.6 / 2.8 |
| Patient sex | Male | Female | Male |
| Genetic mutation | SBDS compound heterozygous: c.183_184TA>CT; c.258+2T>C (splicing) | SBDS compound heterozygous: c.258+2T>C (splicing); c.624+1G>A (splicing) | SBDS compound heterozygous: c.183_184TA>CT; c.258+2T>C (splicing) |
| Pancreatic dysfunction | Yes | Yes | Yes |
| Trypsinogen ng/mL | 11.0 (LLN 16.9) | 8.9 (LLN 10) | 5.4 (LLN 10) |
| Isoamylase (normal >13 U/L) | 3 | 5 | 3 |
| Additional clinical features | − | Cleft-palate, Pierre Robin, Height <5%ile | Height 5–10%ile |
| Augmented HCT/CI at HCT | 3 | 1 | 1 |
| Peripheral blood counts | |||
| ANC (cells/µ.L) | 600 | 170 | 180 |
| Hematocrit | 39% | 19% | 20% |
| Platelet Count (cells/µL) | 58,000 | 7,000 | 76,000 |
| Transfusion dependent | No | Yes (pRBC and platelets) | Yes (pRBCs) |
| Bone marrow evaluation | |||
| Cellularity | Average 7–10% | Average 60% | Average 50% |
| Cytogenetics/FISH | Normal at HCT/h/o deletion 20q | Normal/Normal | +1,der(1;17)(q10;q10)[17]/17p- (33.8%) |
| Indication(s) for HCT | Cytopenias | Cytopenias, pRBC and platelet transfusion dependent | Cytopenias, pRBC transfusion dependent, abnormal FISH |
| HCT Characteristics and Outcomes | |||
| Donor/stem cell source | MURD/marrow | MURD/PBSC | MURD/marrow |
| Follow-up (yr) | Alive, 5.5 | Alive, 4.6 | Alive, 3.1 |
| Donor chimerism (CD3+/CD33+)† | 100%/100% | 100%/100% | 100%/100% |
| GVHD§ | |||
| Acute/Chronic (Yes/No) | No/No | Yes/No | Yes/No |
| Day Immune Suppression Stopped | 242 | 278 | 450 |
| Peripheral blood counts† | |||
| ANC (cells/µL) | 4473 | 2090 | 1460 |
| Hematocrit | 48.3% | 39.4% | 37.4% |
| Platelet count (cells/µL) | 159,000 | 206,000 | 272,000 |
| Bone marrow evaluation† | |||
| Cellularity | 20% | 70% | N/A |
| Cytogenetics/FISH | Normal/Normal | Normal/ND | Normal/Normal |
| Disease response | Normal blood counts, Transfusion Independent | Normal blood counts, Transfusion Independent | Normal blood counts, Transfusion Independent, Normal marrow cytogenetics |
†
At last time point studied;
§
Acute grade II-IV GVHD, delayed acute GVHD, or NIH chronic GVHD
Abbreviations: ANC, absolute neutrophil count; HCT, hematopoietic cell transplantation; HCT-CI, hematopoietic cell transplantation comorbidity index; h/o, history of; MURD, matched unrelated donor; N/A, not available; ND, not done; PBSC, peripheral blood stem cells; pRBC, packed red blood cell; R, recipient; SDS, Shwachman-Diamond syndrome; yr, years