Clinical and laboratory features of patients with FPD/AML
. | . | Platelet count, × 109/L . | . | Aggregation, %† . | . | . | . | Bone marrow morphology . | . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient . | Age, y . | . | MPV, fL* . | ADP . | Epi . | AA . | Col . | . | Cytogenetics . | |||
| I-1 | 56‡ | 2 | ND | ND | ND | ND | ND | CMMoL | 46,XX§ | |||
| II-1 | 39 | 145 | 7.4 | 42 | 18 | 57 | 20 | ND | ND | |||
| II-2 | 38 | 50 | 8.1 | 23 | 0 | 26 | 0 | Immature MK | 46,XX,del(11)(q21)[3]/46,XX[9] | |||
| III-1 | 19 | 140 | 6.3 | 30 | 15 | 0 | 13 | ND | ND | |||
| III-3 | 15 | 90 | 7.7 | 27 | 19 | 22 | 21 | Immature MK | 46,XX | |||
. | . | Platelet count, × 109/L . | . | Aggregation, %† . | . | . | . | Bone marrow morphology . | . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient . | Age, y . | . | MPV, fL* . | ADP . | Epi . | AA . | Col . | . | Cytogenetics . | |||
| I-1 | 56‡ | 2 | ND | ND | ND | ND | ND | CMMoL | 46,XX§ | |||
| II-1 | 39 | 145 | 7.4 | 42 | 18 | 57 | 20 | ND | ND | |||
| II-2 | 38 | 50 | 8.1 | 23 | 0 | 26 | 0 | Immature MK | 46,XX,del(11)(q21)[3]/46,XX[9] | |||
| III-1 | 19 | 140 | 6.3 | 30 | 15 | 0 | 13 | ND | ND | |||
| III-3 | 15 | 90 | 7.7 | 27 | 19 | 22 | 21 | Immature MK | 46,XX | |||
MPV indicates mean platelet volume; Epi, epinephrine; AA, arachidonic acid; Col, collagen; ND, not done; MK, megakaryocytes.
Mean ± SD MPV in healthy controls (n = 33) was 8.32 ± 1.02 fL.
Mean ± SD platelet aggregation in response to 2 μM ADP, 1 μM Epi, 1 mM AA, and 4 μg/mL Col in healthy controls (n = 60) was 66% ± 6%, 75% ± 3%, 66% ± 5%, and 70% ± 5%, respectively.
Age at death.
FISH analysis with a whole chromosome 5 probe revealed 3 signals in 50% of metaphases.