GATA2 mutation, clinical features, transplantation, and outcome
| Patient . | GATA2 mutation(s)* . | Family history . | Clinical features . | Age at onset (y) . | Sex . | Age at transplantation (y) Year of transplant . | Days to discharge . | Total dose of drugs for conditioning GVHD prophylaxis . | Donor and HLA match†CMV serostatus (donor/recipient) . | Donor myeloid/ T cell chimerism . | Significant posttransplantation events . | Survival Follow up (y) . | KPS (%) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | c.599_600insG p.G200fs | De novo | Recurrent BCG-osis | 12 | M | 16 2008 | 33 | Flu 150 mg/m2 Mel 140 mg/m2 Alem 0.2 mg/kg −8 to −4 (1 mg/kg) Ciclosporin MMF | MUD 9/10 (C) NEG / NEG | 100 / 85 | Grade I acute GVHD No chronic GVHD Immune reconstitution syndrome at 28 d Melanoma | Alive 9 | 100 |
| 2 | c.1192 C>T p.R398W | Chest MDS | HPV 16/18 with VIN III PAP MRSA and Pseudomonas aeruginosa ASXL1 mutation | 20 | F | 23 2010 | 28 | Flu 150 mg/m2 Bu 6.4 mg/kg Alem 30 mg ×2 −4; −2 (60 mg) Ciclosporin MMF | MUD 8/10 (A,DQ) NEG / NEG | 100 / 96 | No GVHD ITP (Rituximab) at 7 mo 2 viable pregnancies | Alive 7 | 100 |
| 3 | c.1193 G>A p.R398Q | MDS AML | Mycobacterium malmoense Granulomatous hepatitis Addison disease Emphysema | 34 | M | 35 2012 | 18 | Flu 150 mg/m2 Treo 42 mg/m2 Alem 10 mg/day −7 to −3 (50 mg) Ciclosporin MMF | MUD 10/10 POS / POS | 100 / 95 | Grade I acute GVHD No chronic GVHD AIHA (Rituximab) at 9 mo | Alive 5 | 90 |
| 4 | c.599_600insG p.G200fs c.1168_1170 del1AAG p.390delK | MDS AML | PAP Trilineage dysplasia ASXL1 mutation | 21 | M | 29 2012 | 14 | Flu 150 mg/m2 Treo 42 mg/m2 Alem 10 mg/day −7 to −3 (50 mg) Ciclosporin | Matched sibling NEG / NEG | 100 / 100 | Grade I acute GVHD No chronic GVHD | Alive 5 | 100 |
| Patient . | GATA2 mutation(s)* . | Family history . | Clinical features . | Age at onset (y) . | Sex . | Age at transplantation (y) Year of transplant . | Days to discharge . | Total dose of drugs for conditioning GVHD prophylaxis . | Donor and HLA match†CMV serostatus (donor/recipient) . | Donor myeloid/ T cell chimerism . | Significant posttransplantation events . | Survival Follow up (y) . | KPS (%) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | c.599_600insG p.G200fs | De novo | Recurrent BCG-osis | 12 | M | 16 2008 | 33 | Flu 150 mg/m2 Mel 140 mg/m2 Alem 0.2 mg/kg −8 to −4 (1 mg/kg) Ciclosporin MMF | MUD 9/10 (C) NEG / NEG | 100 / 85 | Grade I acute GVHD No chronic GVHD Immune reconstitution syndrome at 28 d Melanoma | Alive 9 | 100 |
| 2 | c.1192 C>T p.R398W | Chest MDS | HPV 16/18 with VIN III PAP MRSA and Pseudomonas aeruginosa ASXL1 mutation | 20 | F | 23 2010 | 28 | Flu 150 mg/m2 Bu 6.4 mg/kg Alem 30 mg ×2 −4; −2 (60 mg) Ciclosporin MMF | MUD 8/10 (A,DQ) NEG / NEG | 100 / 96 | No GVHD ITP (Rituximab) at 7 mo 2 viable pregnancies | Alive 7 | 100 |
| 3 | c.1193 G>A p.R398Q | MDS AML | Mycobacterium malmoense Granulomatous hepatitis Addison disease Emphysema | 34 | M | 35 2012 | 18 | Flu 150 mg/m2 Treo 42 mg/m2 Alem 10 mg/day −7 to −3 (50 mg) Ciclosporin MMF | MUD 10/10 POS / POS | 100 / 95 | Grade I acute GVHD No chronic GVHD AIHA (Rituximab) at 9 mo | Alive 5 | 90 |
| 4 | c.599_600insG p.G200fs c.1168_1170 del1AAG p.390delK | MDS AML | PAP Trilineage dysplasia ASXL1 mutation | 21 | M | 29 2012 | 14 | Flu 150 mg/m2 Treo 42 mg/m2 Alem 10 mg/day −7 to −3 (50 mg) Ciclosporin | Matched sibling NEG / NEG | 100 / 100 | Grade I acute GVHD No chronic GVHD | Alive 5 | 100 |
All patients are currently alive without chronic GVHD.
AIHA, autoimmune hemolytic anemia; Alem, alemtuzumab; BCG, Bacille Calmette-Guérin; Bu, busulfan; CMV, cytomegalovirus; F, female; Flu, fludarabine; GVHD, graft-versus-host disease; ITP, idiopathic thrombocytopenic purpura; KPS, Karnofsky performance status; M, male; Mel, melphalan; MMF, mycophenolate mofetil; MRSA, methicillin-resistant Staphylococcus aureus; MUD, matched unrelated donor; PAP, pulmonary alveolar proteinosis; Treo, treosulfan; VIN, vulval intraepithelial neoplasia.
Patient 4 had a confirmed germline c.599_600insG mutation and somatically acquired c.1168_1170 del1AAG mutation in GATA2.
HLA allele match is described with mismatched alleles in parentheses.