Table 1.
Comparison of clinical and genetic characteristics of the retrospectively reviewed cohort of 91 patients with RUNX1-FPD.
| All Cases (n = 91): Number (Range or %) |
No Signs of RUNX1-FPD (n = 2): Number (Range or %) |
Cytopenia (n = 28): Number (Range or %) |
MDS (n = 9): Number (Range or %) |
AML (n = 37): Number (Range or %) |
MDS/AML (n = 7): Number (Range or %) |
Other Myeloid HM a (n = 4): Number (Range or %) | Lymphoid HM b (n = 4): Number (Range or %) | |
|---|---|---|---|---|---|---|---|---|
| Characteristics | ||||||||
| median age at diagnosis (years) c | 42 (0.08–74) | 35.5 (18–53) | 52.5 (3–71) | 29 (7–58) | 42 (0.08–74) | 55 (37–65) | 37.5 (10–63) | 29 (16–42) |
| age at diagnosis, NA | 28 (31%) | 0 (0%) | 18 (64%) | 2 (22%) | 7 (19%) | 1 (14%) | 0 (0%) | 0 (0%) |
| Germline RUNX1 variant type | ||||||||
| missense | 27 (30%) | 0 (0%) | 11 (39%) | 2 (22%) | 8 (22%) | 2 (29%) | 1 (25%) | 3 (75%) |
| nonsense | 23 (25%) | 1 (50%) | 2 (7%) | 3 (33%) | 15 (41%) | 2 (29%) | 0 (0%) | 0 (0%) |
| frameshift | 24 (26%) | 1 (50%) | 8 (29%) | 1 (11%) | 9 (24%) | 2 (29%) | 2 (50%) | 1 (25%) |
| deletion d | 16 (18%) | 0 (0%) | 6 (21%) | 3 (33%) | 5 (14%) | 1 (14%) | 1 (25%) | 0 (0%) |
| splice site | 1 (1%) | 0 (0%) | 1 (4%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
| Karyotype | ||||||||
| normal | 25 (27%) | 0 (0%) | 9 (32%) | 2 (22%) | 9 (24%) | 2 (29%) | 1 (25%) | 1 (25%) |
| abnormal | 31 (34%) | 0 (0%) | 0 (0%) | 6 (67%) | 19 (51%) | 2 (25%) | 1 (25%) | 3 (75%) |
| NA | 35 (38%) | 2 (100%) | 19 (68%) | 1 (11%) | 9 (24%) | 3 (43%) | 2 (50%) | 0 (0%) |
| Somatic RUNX1 alteration | ||||||||
| detected | 23 (25%) | 0 (0%) | 0 (0%) | 2 (22%) | 20 (54%) | 1 (14%) | 0 (0%) | 0 (0%) |
| not detected | 66 (73%) | 2 (100%) | 28 (100%) | 7 (78%) | 17 (46%) | 6 (86%) | 4 (100%) | 4 (100%) |
| NA | 2 (2%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
| Additional somatic variants | ||||||||
| median number of analyzed genes | 28 (1–51) | 27 (21–33) | 33 (1–43) | 23 (2–38) | 27 (1–51) | 38 (17–48) | 16.5 (3–33) | 35 (1–43) |
| median number of somatic variants | 2 (0–32) | 3 (0–6) | 0.5 (0–6) | 2 (0–20) | 2 (0–12) | 2 (0–10) | 2.5 (1–3) | 2 (1–32) |
| no variants detected | 25 (27%) | 1 (50%) | 14 (50%) | 3 (33%) | 6 (16%) | 1 (29%) | 0 (0%) | 0 (0%) |
Abbreviations: AML—acute myeloid leukemia; HM—hematologic malignancies; MDS—myelodysplastic syndrome; NA—not available; RUNX1-FPD—familial platelet disorder with predisposition to hematologic malignancies. a including two chronic myelomonocytic leukemia, one juvenile myelomonocytic leukemia, and one myeloproliferative neoplasm not further specified. b including one B-cell acute lymphoblastic leukemia, one T-cell acute lymphoblastic leukemia, one T-cell non-Hodgkin lymphoma, and one acute lymphoblastic leukemia not further specified. c some authors refer to the time of first reported symptoms and others at the time of genetic diagnosis. d includes whole gene deletions as well as exonic deletions (for details please refer to Figure 2).