Characteristics of patients with MDS undergoing related HSCT with and without P/LP germ line variants
| Characteristic . | No P/LP variant . | P/LP variant . | P value . |
|---|---|---|---|
| Patients, No. | 376 | 28 | |
| Median age at diagnosis, y (range) | 59 (1-75) | 57 (12-72) | .44∗ |
| Age at diagnosis, No. (%† ) | |||
| 0-10 | 7 (100) | 0 (0) | |
| 11-20 | 6 (67) | 3 (33) | |
| 21-30 | 11 (92) | 1 (8) | |
| 31-40 | 11 (92) | 1 (8) | |
| 41-50 | 47 (94) | 3 (6) | |
| 51-60 | 127 (93) | 9 (7) | |
| 61-70 | 156 (94) | 10 (6) | |
| 71-80 | 11 (92) | 1 (8) | |
| Sex, No. (%) | .69‡ | ||
| Male | 232 (62) | 16 (57) | |
| Female | 144 (38) | 12 (43) | |
| Recipient race, No. (%) | .94§ | ||
| White | 330 (88) | 27 (96) | |
| Black or African American | 21 (6) | 1 (4) | |
| Asian | 14 (4) | 0 (0) | |
| Native Hawaiian or other Pacific Islander | 1 (0) | 0 (0) | |
| American Indian or Alaska Native | 3 (1) | 0 (0) | |
| Unknown | 7 (2) | 0 (0) | |
| Disease classification at diagnosis, No. (%) | .04§ | ||
| RA | 20 (5) | 2 (7) | |
| RARS | 16 (4) | 0 (0) | |
| RAEB-1 | 79 (21) | 2 (7) | |
| RAEB-2 | 93 (25) | 12 (43) | |
| RCMD | 68 (18) | 3 (11) | |
| RCMD-RS | 4 (1) | 0 (0) | |
| 5q– syndrome | 1 (0) | 2 (7) | |
| CMML | 37 (10) | 2 (7) | |
| JMML | 1 (0) | 0 (0) | |
| MDS, unclassifiable | 57 (15) | 5 (18) | |
| Bone marrow cellularity | .86§,∥ | ||
| Decreased (hypocellular) | 30 (8) | 3 (11) | |
| Normal | 51 (13) | 7 (25) | |
| Increased (hypercellular) | 127 (34) | 14 (50) | |
| Unknown | 168 (45) | 4 (14) | |
| Disease status before HSCT¶ , No. (%) | .83§,∥ | ||
| Early | 88 (23) | 9 (32) | |
| Advanced | 187 (50) | 17 (61) | |
| Unknown | 101 (27) | 2 (7) | |
| Cytogenetics, No. (%) | .57§,∥ | ||
| Favorable | 134 (36) | 15 (54) | |
| Intermediate | 17 (5) | 1 (4) | |
| Poor | 28 (7) | 5 (18) | |
| Unknown | 197 (52) | 7 (25) | |
| IPSS-R, No. (%) | .61§,∥ | ||
| Very low | 8 (2) | 2 (7) | |
| Low | 46 (12) | 4 (14) | |
| Intermediate | 59 (16) | 9 (32) | |
| High | 46 (12) | 4 (14) | |
| Very high | 13 (3) | 2 (7) | |
| Unknown | 204 (54) | 7 (25) | |
| Predisposing condition, No. (%) | .044§,∥ | ||
| No predisposing condition | 252 (67) | 23 (82) | |
| Fanconi anemia | 0 (0) | 1 (4) | |
| Aplastic anemia | 6 (2) | 0 (0) | |
| Other | 8 (2) | 2 (7) | |
| Unknown | 110 (29) | 2 (8) | |
| Conditioning regimen intensity, No. (%) | .93§ | ||
| MAC | 203 (54) | 15 (54) | |
| RIC/NMA | 171 (45) | 13 (46) | |
| Unknown | 2 (1) | 0 (0) | |
| Graft source, No. (%) | .75‡ | ||
| Bone marrow | 48 (13) | 3 (11) | |
| Peripheral blood | 328 (87) | 25 (89) | |
| Donor type, No. (%) | .99§ | ||
| HLA-identical sibling | 315 (84) | 24 (86) | |
| Twin | 2 (1) | 0 (0) | |
| Haploidentical | 46 (12) | 3 (10) | |
| Other related: Not haploidentical | 13 (3) | 1 (4) |
| Characteristic . | No P/LP variant . | P/LP variant . | P value . |
|---|---|---|---|
| Patients, No. | 376 | 28 | |
| Median age at diagnosis, y (range) | 59 (1-75) | 57 (12-72) | .44∗ |
| Age at diagnosis, No. (%† ) | |||
| 0-10 | 7 (100) | 0 (0) | |
| 11-20 | 6 (67) | 3 (33) | |
| 21-30 | 11 (92) | 1 (8) | |
| 31-40 | 11 (92) | 1 (8) | |
| 41-50 | 47 (94) | 3 (6) | |
| 51-60 | 127 (93) | 9 (7) | |
| 61-70 | 156 (94) | 10 (6) | |
| 71-80 | 11 (92) | 1 (8) | |
| Sex, No. (%) | .69‡ | ||
| Male | 232 (62) | 16 (57) | |
| Female | 144 (38) | 12 (43) | |
| Recipient race, No. (%) | .94§ | ||
| White | 330 (88) | 27 (96) | |
| Black or African American | 21 (6) | 1 (4) | |
| Asian | 14 (4) | 0 (0) | |
| Native Hawaiian or other Pacific Islander | 1 (0) | 0 (0) | |
| American Indian or Alaska Native | 3 (1) | 0 (0) | |
| Unknown | 7 (2) | 0 (0) | |
| Disease classification at diagnosis, No. (%) | .04§ | ||
| RA | 20 (5) | 2 (7) | |
| RARS | 16 (4) | 0 (0) | |
| RAEB-1 | 79 (21) | 2 (7) | |
| RAEB-2 | 93 (25) | 12 (43) | |
| RCMD | 68 (18) | 3 (11) | |
| RCMD-RS | 4 (1) | 0 (0) | |
| 5q– syndrome | 1 (0) | 2 (7) | |
| CMML | 37 (10) | 2 (7) | |
| JMML | 1 (0) | 0 (0) | |
| MDS, unclassifiable | 57 (15) | 5 (18) | |
| Bone marrow cellularity | .86§,∥ | ||
| Decreased (hypocellular) | 30 (8) | 3 (11) | |
| Normal | 51 (13) | 7 (25) | |
| Increased (hypercellular) | 127 (34) | 14 (50) | |
| Unknown | 168 (45) | 4 (14) | |
| Disease status before HSCT¶ , No. (%) | .83§,∥ | ||
| Early | 88 (23) | 9 (32) | |
| Advanced | 187 (50) | 17 (61) | |
| Unknown | 101 (27) | 2 (7) | |
| Cytogenetics, No. (%) | .57§,∥ | ||
| Favorable | 134 (36) | 15 (54) | |
| Intermediate | 17 (5) | 1 (4) | |
| Poor | 28 (7) | 5 (18) | |
| Unknown | 197 (52) | 7 (25) | |
| IPSS-R, No. (%) | .61§,∥ | ||
| Very low | 8 (2) | 2 (7) | |
| Low | 46 (12) | 4 (14) | |
| Intermediate | 59 (16) | 9 (32) | |
| High | 46 (12) | 4 (14) | |
| Very high | 13 (3) | 2 (7) | |
| Unknown | 204 (54) | 7 (25) | |
| Predisposing condition, No. (%) | .044§,∥ | ||
| No predisposing condition | 252 (67) | 23 (82) | |
| Fanconi anemia | 0 (0) | 1 (4) | |
| Aplastic anemia | 6 (2) | 0 (0) | |
| Other | 8 (2) | 2 (7) | |
| Unknown | 110 (29) | 2 (8) | |
| Conditioning regimen intensity, No. (%) | .93§ | ||
| MAC | 203 (54) | 15 (54) | |
| RIC/NMA | 171 (45) | 13 (46) | |
| Unknown | 2 (1) | 0 (0) | |
| Graft source, No. (%) | .75‡ | ||
| Bone marrow | 48 (13) | 3 (11) | |
| Peripheral blood | 328 (87) | 25 (89) | |
| Donor type, No. (%) | .99§ | ||
| HLA-identical sibling | 315 (84) | 24 (86) | |
| Twin | 2 (1) | 0 (0) | |
| Haploidentical | 46 (12) | 3 (10) | |
| Other related: Not haploidentical | 13 (3) | 1 (4) |
CMML, chronic myelomonocytic leukemia; HLA, human leukocyte antigen; HSCT, hematopoietic stem cell transplantation; IPSS-R, revised International Prognostic Scoring System; JMML, juvenile myelomonocytic leukemia; MAC, myeloablative conditioning; MDS, myelodysplastic syndrome; NMA, nonmyeloablative conditioning; RA, refractory anemia; RAEB-1, RAEB-2, refractory anemia with excess blasts types 1 and 2; RARS, refractory anemia with ring sideroblasts; RCMD, refractory cytopenia with multilineage dysplasia; RCMD-RS, refractory cytopenia with multilineage dysplasia and ring sideroblasts; RIC, reduced intensity conditioning.
Kruskal-Wallis test.
Row percentage.
Fisher exact test.
Fisher exact test via Monte Carlo simulation.
P values based on data excluding missing categories.
Early: RA, RARS, RCMD, RCMD-RS, 5q– syndrome. Advanced: RAEB-1, RAEB-2, CMML.