FPD/AML phenotypic criteria
| Feature . | Details . | Lifetime risk . |
|---|---|---|
| Thrombocytopenia | Mild to moderate, normal platelet size and volume, absence of other causes for thrombocytopenia | In most patients |
| Platelet ultrastructural and/or functional defects | Includes platelet alpha or dense granule secretion defects and impaired platelet aggregation (particularly in response to collagen and epinephrine) | Unknown |
| Hematologic malignancy | Most commonly AML or MDS, less frequently T-ALL. There are rare case reports of patients with germline RUNX1 mutations and mixed MPN/MDS such as CMML, as well as case reports of patients with B-cell ALL and hairy-cell leukemia | ∼44% |
| Feature . | Details . | Lifetime risk . |
|---|---|---|
| Thrombocytopenia | Mild to moderate, normal platelet size and volume, absence of other causes for thrombocytopenia | In most patients |
| Platelet ultrastructural and/or functional defects | Includes platelet alpha or dense granule secretion defects and impaired platelet aggregation (particularly in response to collagen and epinephrine) | Unknown |
| Hematologic malignancy | Most commonly AML or MDS, less frequently T-ALL. There are rare case reports of patients with germline RUNX1 mutations and mixed MPN/MDS such as CMML, as well as case reports of patients with B-cell ALL and hairy-cell leukemia | ∼44% |
CMML, chronic myelomonocytic leukemia; MPN, myeloproliferative syndrome.