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Table 1 Summary of the haematological features of the cohort of 43 patients with FPD/AML syndrome associated with RUNX1 mutations

From: Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

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