Table 1 Summary of the haematological features of the cohort of 43 patients with FPD/AML syndrome associated with RUNX1 mutations
Pedigree/patient | Sex | Bleeding score | Age at thrombocytopenia diagnosis | Platelet investigations | AL diagnosis/Age at diagnostic | FPD/AML diagnosis delay | Vital status | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Thrombocytopenia Platelet count (x109/L) | LTA | ATP secretion | Platelet dense content | Bone marrow megacaryopoïesis | |||||||
A/I:2 | M | NP | ND | Mild thrombocytopenia | NP | NP | NP | NP | AML-M0 and UC-AML 33 and 39 | 39 | Death |
A/II:1 | M | 1 | ? | 70 | NP | NP | NP | NP | No hematological malignancy | - | Alive |
A/II:2 proband | F | 1 | ? | 70 | Normal pattern | NP | NP | NP | No hematological malignancy | - | Alive |
A/III:2 | F | 1 | ? | 82 | NP | NP | NP | NP | NP | - | Alive |
B/II:1 | F | NP | ND | Mild thrombocytopenia | NP | NP | NP | NP | UC-AML | - | Death |
B/II:2 | M | ND | Mild thrombocytopenia | NP | NP | NP | NP | No hematological malignancy | - | Death | |
B/III:2 | M | NP | 25 | Mild thrombocytopenia | NP | NP | NP | NP | AML-M5 25 | <1 year | Death |
B/III:4 | M | NP | 25 | Mild thrombocytopenia | NP | NP | NP | NP | AML-M5 25 | <1 year | Death |
B/III:6 proband | F | NP | 41 | Mild thrombocytopenia | NP | NP | NP | NP | AML-M0 42 | <1 year | Death |
B/III:8 | F | NP | ND | Mild thrombocytopenia | NP | NP | NP | NP | No hematological malignancy | - | Alive |
B/IV:2 | M | NP | 6 | Mild thrombocytopenia | NP | NP | NP | NP | AML-M4 6 | <1 year | Death |
B/IV:3 | M | NP | ND | Mild thrombocytopenia | NP | NP | NP | NP | No hematological malignancy | - | Alive |
C/I:1 | F | NP | 46 | 84 | Normal pattern | NP | Mepacrine and CD63 decreased | Dysmegakaryopoiesis | secondary AML to MDS 56 | 10 years | Death |
C/II:1 proband | M | 1 | 25 | 119 | Normal pattern | NP | Mepacrine decreaed | Dysmegakaryopoiesis | T-ALL and AML-M1 41 and 43 | 16 years | Death |
C/II:2 | F | 1 | 18 | 134 | NP | NP | Mepacrine decreaed | Dysmegakaryopoiesis | No hematological malignancy | .- | Alive |
C/II:3 | M | NP | ND | 50 | NP | NP | NP | ND | AML-M1 15 | ND | Death |
D/I:2 | M | NP | ND | ND | NP | NP | NP | NP | UC- AML 60 | ND | Death |
D/II:1 | M | 0 | NA | Normal platelet count | NP | NP | NP | NP | No hematological malignancy | - | Alive |
D/II.:3 | M | 0 | NA | Normal platelet count | NP | NP | NP | NP | No hematological malignancy | - | Alive |
D/II:6 | M | 0 | 47 | 90–120 | δ-SPD pattern | NP | NP | NP | AML-M4 51 | 4 years | Alive in CR |
D/III:8 proband | M | 2 | 8 | 90–120 | δ-SPD pattern | NP | NP | NP | T-ALL 28 | 20 years | Alive in CR |
E/II.2 | M | NP | ‘Since childhood’ | Mild thrombocytopenia | NP | NP | NP | NP | AML | ND | Death |
E/II:3 proband | M | NP | ‘Since childhood’ | 122 | δ-SPD pattern | NP | Mepacrine and CD63 decreased | Dysmegakaryopoiesis | MDS | - | Death (buccal neoplasia) |
E/II/5 | M | 4 | Since childhood | 125 | NP | NP | NP | NP | No haematological malignncy | ND | Alive |
E/II:7 | M | 3 | ‘Since childhood’ | 112 | δ-SPD pattern | Decreased | Mepacrine and CD63 decreased | NP | No hematological malignancy | - | Alive |
E/III:4 | F | 2 | ‘Since childhood’ | 120 | NP | NP | NP | NP | No hematological malignancy | - | Alive |
E/III:5 | F | 8 | ‘Since childhood’ | 145 | δ-SPD pattern | Decreased | Mepacrine and CD63 decreased | NP | No hematological malignancy | - | Alive |
E/III:9 | F | 3 | ‘Since childhood’ | 118 | δ-SPD pattern | Decreased | Mepacrine and CD63 decreased | NP | No hematological malignancy | - | Alive |
E/III:10 | M | 3 | ‘Since the birth’ | 126 | δ-SPD pattern | Decreased | Mepacrine and CD63 decreased | NP | No hematological malignancy | - | Alive |
F/I:1 | F | NP | ‘Since childhood’ | Mild thrombocytopenia | NP | NP | NP | NP | CLL | - | Alive |
F/II:6 proband | F | 3 | ‘Since childhood’ | 90–120 | NP | NP | NP | NP | AML-M5 55 | 55 | Alive |
F/III:1 | F | 3 | ‘Since childhood’ | 120–150 | δ-SPD pattern | NP | NP | NP | No hematological malignancy | - | Alive |
F/III:2 | F | 3 | ‘Since childhood’ | Mild thrombocytopenia | NP | NP | NP | NP | T-ALL and AML-M0 18 and 23 | 18 | Death |
G/I:2 | M | 0 | ‘Since childhood’ | 70 | δ-SPD pattern | NP | Mepacrine and serotonin decreased with normal CD63 expression | NP | No hematological malignancy | - | Alive |
G/II:1 proband | M | 0 | 12 | 79–88 | δ-SPD pattern | NP | Normal | NP | No hematological malignancy | - | Alive |
H/II:2 | F | 1 | 30 | 120–150 | δ-SPD pattern | Decreased | Mepacrine and CD63 decreased | NP | No hematological malignancy | - | Alive |
H/III:1 proband | M | 2 | 2 | 60–90 | δ-SPD pattern | Decreased | Mepacrine and CD63 decreased | Dysmegakaryopoiesis | AML-M2 6 | 4 | Alive |
I/I:2 | M | 0 | 67 | 120–180 | NP | NP | NP | NP | No hematological malignancy | - | Alive |
I/II:2 | F | 1 | 37 | 130 | δ-SPD pattern | Decreased | Reduced number of δ-granules by EM | NP | AML-M2 45 | 8 years | Alive |
I/II:3 | F | 0 | 38 | 140–160 | δ-SPD pattern | Decreased | NP | NP | No hematological malignancy | - | Alive |
I/III:2 proband | M | 2 | 1 | 90–120 | δ-SPD pattern | Decreased | NP | Dysmegakaryopoiesis | No hematological malignancy | - | Alive |
I/III:3 | F | 1 | 3 | 160 Normal platelet count | δ-SPD pattern | Decreased | NP | Dysmegackryopoiesis | No hematological malignancy | - | Alive |
Patient J | F | 0 | 10 | 50–60 | δ-SPD pattern | Decreased | Mepacrine and CD63 decreased | NP | No hematological malignancy | <1 year | Alive |
PatientK | F | 0 | 1 | 40–50 | NP | NP | NP | NP | secondary AML to MDS 13 | 12 | Death |