Characteristics of patients who underwent allogeneic hematopoietic cell transplant
| . | Germ line DDX41 (n = 21) . | Germ line CHEK2 (n = 7) . | Other HHM (n = 26) . | No HHM (n = 107) . |
|---|---|---|---|---|
| Age at HSCT, y, median (range) | 65 (51-73) | 57 (44-69) | 48 (19-71) | 57 (18-74) |
| Female, n (%) | 6 (28.5) | 5 (71.4) | 8 (30.8) | 47 (43.9) |
| Year of HSCT | ||||
| 2017-2021 | 16 (76.2) | 5 (71.4) | 13 (50) | 83 (77.6) |
| 2012-2016 | 3 (14.3) | 2 (28.6) | 6 (23.1) | 20 (18.7) |
| Before 2011 | 2 (9.5) | 0 | 7 (26.9) | 4 (3.7) |
| DRI group, n (%) | ||||
| Low | 0 | 0 | 2 (7.8) | 23 (21.5) |
| Intermediate | 10 (47.6) | 2 (28.5) | 5 (19.2) | 24 (22.4) |
| High | 9 (42.9) | 3 (42.9) | 13 (50) | 41 (38.3) |
| Very high | 0 | 1 (14.3) | 1 (3.8) | 4 (3.7) |
| Unknown | 2 (9.5) | 1 (14.3) | 5 (19.2) | 15 (14.1) |
| Diagnosis, n (%) | ||||
| AML | 14 (66.7) | 5 (71.4) | 13 (50) | 64 (59.8) |
| MDS | 6 (28.5) | 1 (14.3) | 12 (46.2) | 34 (31.8) |
| MDS/MPN | 0 | 0 | 1 (3.8) | 9 (8.4) |
| MPN | 1 (4.8) | 1 (14.3) | 0 | 0 |
| Donor type, n (%) | ||||
| MUD | 13 (62) | 7 (100) | 12 (46.2) | 60 (56.1) |
| MRD | 4 (19) | 0 | 9 (34.6) | 23 (21.5) |
| Haplo/cord | 2 (9.5) | 0 | 2 (7.7) | 12 (11.2) |
| Haploidentical | 2 (9.5) | 0 | 0 | 1 (0.9) |
| Cord | 0 | 0 | 2 (7.7) | 4 (3.7) |
| Unknown | 0 | 0 | 1 (3.8) | 7 (6.6) |
| Related donor carrying germ line mutation, n (%) | 1 (4.8) | 0 | 1 (3.8) | 0 |
| Graft type, n (%) | ||||
| Peripheral blood | 21 (100) | 7 (100) | 26 (100) | 107 (100) |
| Disease status, n (%) | ||||
| CR1 | 12 (57.1) | 3 (42.9) | 11 (42.4) | 55 (51.4) |
| CR2 | 4 (19) | 4 (57.1) | 4 (15.3) | 16 (14.9) |
| Active disease | 3 (14.4) | 0 | 8 (30.8) | 28 (26.2) |
| Unknown | 2 (9.5) | 0 | 3 (11.5) | 8 (7.5) |
| Conditioning regimen, n (%) | ||||
| Flu/Mel | 6 (28.5) | 4 (57.1) | 11 (42.4) | 47 (43.9) |
| Flu/Bu | 8 (38.2) | 2 (28.6) | 6 (23.1) | 32 (29.9) |
| Bu/Cy | 0 | 1 (14.3) | 1 (3.8) | 9 (8.4) |
| Flu/Cy/TBI | 4 (19) | 0 | 2 (7.7) | 4 (3.7) |
| Flu/Mel/TBI | 2 (9.5) | 0 | 0 | 7 (6.6) |
| Cy/TBI | 0 | 0 | 2 (7.7) | 0 |
| Flu/Cy | 0 | 0 | 0 | 1 (0.9) |
| Clo/Mel | 0 | 0 | 1 (3.8) | 0 |
| Unknown | 1 (4.8) | 0 | 3 (11.5) | 7 (6.6) |
| Conditioning intensity | ||||
| Myeloablative | 6 (28.5) | 3 (42.9) | 11 (42.4) | 46 (43) |
| Reduced intensity | 14 (66.7) | 4 (57.1) | 12 (46.1) | 54 (50.5) |
| Unknown | 1 (4.8) | 0 | 3 (11.5) | 7 (6.5) |
| GVHD prophylaxis, n (%) | ||||
| CNI + methotrexate | 7 (33.3) | 3 (42.9) | 4 (15.3) | 26 (24.3) |
| CNI + alemtuzumab | 5 (23.8) | 3 (42.9) | 9 (34.7) | 23 (21.5) |
| CNI + methotrexate + ATG | 0 | 1 (14.2) | 6 (23.1) | 22 (20.6) |
| CNI + ATG | 2 (9.5) | 0 | 2 (7.7) | 17 (15.9) |
| CNI + post-HSCT Cy | 5 (23.8) | 0 | 0 | 6 (5.6) |
| CNI + MMF | 0 | 0 | 2 (7.7) | 4 (3.7) |
| CNI + Tregs | 1 (4.8) | 0 | 0 | 0 |
| Unknown | 1 (4.8) | 0 | 3 (11.5) | 9 (8.4) |
| Day of engraftment, median (range) | 15.5 (10-23) | 11 (10-20) | 14 (8-16) | 12 (9-19) |
| . | Germ line DDX41 (n = 21) . | Germ line CHEK2 (n = 7) . | Other HHM (n = 26) . | No HHM (n = 107) . |
|---|---|---|---|---|
| Age at HSCT, y, median (range) | 65 (51-73) | 57 (44-69) | 48 (19-71) | 57 (18-74) |
| Female, n (%) | 6 (28.5) | 5 (71.4) | 8 (30.8) | 47 (43.9) |
| Year of HSCT | ||||
| 2017-2021 | 16 (76.2) | 5 (71.4) | 13 (50) | 83 (77.6) |
| 2012-2016 | 3 (14.3) | 2 (28.6) | 6 (23.1) | 20 (18.7) |
| Before 2011 | 2 (9.5) | 0 | 7 (26.9) | 4 (3.7) |
| DRI group, n (%) | ||||
| Low | 0 | 0 | 2 (7.8) | 23 (21.5) |
| Intermediate | 10 (47.6) | 2 (28.5) | 5 (19.2) | 24 (22.4) |
| High | 9 (42.9) | 3 (42.9) | 13 (50) | 41 (38.3) |
| Very high | 0 | 1 (14.3) | 1 (3.8) | 4 (3.7) |
| Unknown | 2 (9.5) | 1 (14.3) | 5 (19.2) | 15 (14.1) |
| Diagnosis, n (%) | ||||
| AML | 14 (66.7) | 5 (71.4) | 13 (50) | 64 (59.8) |
| MDS | 6 (28.5) | 1 (14.3) | 12 (46.2) | 34 (31.8) |
| MDS/MPN | 0 | 0 | 1 (3.8) | 9 (8.4) |
| MPN | 1 (4.8) | 1 (14.3) | 0 | 0 |
| Donor type, n (%) | ||||
| MUD | 13 (62) | 7 (100) | 12 (46.2) | 60 (56.1) |
| MRD | 4 (19) | 0 | 9 (34.6) | 23 (21.5) |
| Haplo/cord | 2 (9.5) | 0 | 2 (7.7) | 12 (11.2) |
| Haploidentical | 2 (9.5) | 0 | 0 | 1 (0.9) |
| Cord | 0 | 0 | 2 (7.7) | 4 (3.7) |
| Unknown | 0 | 0 | 1 (3.8) | 7 (6.6) |
| Related donor carrying germ line mutation, n (%) | 1 (4.8) | 0 | 1 (3.8) | 0 |
| Graft type, n (%) | ||||
| Peripheral blood | 21 (100) | 7 (100) | 26 (100) | 107 (100) |
| Disease status, n (%) | ||||
| CR1 | 12 (57.1) | 3 (42.9) | 11 (42.4) | 55 (51.4) |
| CR2 | 4 (19) | 4 (57.1) | 4 (15.3) | 16 (14.9) |
| Active disease | 3 (14.4) | 0 | 8 (30.8) | 28 (26.2) |
| Unknown | 2 (9.5) | 0 | 3 (11.5) | 8 (7.5) |
| Conditioning regimen, n (%) | ||||
| Flu/Mel | 6 (28.5) | 4 (57.1) | 11 (42.4) | 47 (43.9) |
| Flu/Bu | 8 (38.2) | 2 (28.6) | 6 (23.1) | 32 (29.9) |
| Bu/Cy | 0 | 1 (14.3) | 1 (3.8) | 9 (8.4) |
| Flu/Cy/TBI | 4 (19) | 0 | 2 (7.7) | 4 (3.7) |
| Flu/Mel/TBI | 2 (9.5) | 0 | 0 | 7 (6.6) |
| Cy/TBI | 0 | 0 | 2 (7.7) | 0 |
| Flu/Cy | 0 | 0 | 0 | 1 (0.9) |
| Clo/Mel | 0 | 0 | 1 (3.8) | 0 |
| Unknown | 1 (4.8) | 0 | 3 (11.5) | 7 (6.6) |
| Conditioning intensity | ||||
| Myeloablative | 6 (28.5) | 3 (42.9) | 11 (42.4) | 46 (43) |
| Reduced intensity | 14 (66.7) | 4 (57.1) | 12 (46.1) | 54 (50.5) |
| Unknown | 1 (4.8) | 0 | 3 (11.5) | 7 (6.5) |
| GVHD prophylaxis, n (%) | ||||
| CNI + methotrexate | 7 (33.3) | 3 (42.9) | 4 (15.3) | 26 (24.3) |
| CNI + alemtuzumab | 5 (23.8) | 3 (42.9) | 9 (34.7) | 23 (21.5) |
| CNI + methotrexate + ATG | 0 | 1 (14.2) | 6 (23.1) | 22 (20.6) |
| CNI + ATG | 2 (9.5) | 0 | 2 (7.7) | 17 (15.9) |
| CNI + post-HSCT Cy | 5 (23.8) | 0 | 0 | 6 (5.6) |
| CNI + MMF | 0 | 0 | 2 (7.7) | 4 (3.7) |
| CNI + Tregs | 1 (4.8) | 0 | 0 | 0 |
| Unknown | 1 (4.8) | 0 | 3 (11.5) | 9 (8.4) |
| Day of engraftment, median (range) | 15.5 (10-23) | 11 (10-20) | 14 (8-16) | 12 (9-19) |
AML, acute myeloid leukemia; ATG, antithymocyte globulin; Bu, busulfan; Clo, clofarabine; CNI, calcineurin inhibitor; CR, complete remission; Cy, cyclophosphamide; DRI, disease related index; Flu, fludarabine; GI, gastrointestinal; GVHD, graft-versus-host disease; haplo/cord, haplo-identical/umbilical cord hematopoietic cell transplant; MDS, myelodysplastic syndrome; Mel, melphalan; MMF, mycophenolate mofetil; MPN, myeloproliferative neoplasm; MRD, matched related donor; MUD, matched unrelated donor; TBI, total body irradiation; Tregs, T-regulatory cells.