Family1
|
ID1
|
17
|
F
|
AML
|
46,XX [20]
|
negative
|
Induction: mitoxantrone plus cytarabine
Consolidation: - HD-ARA-C, ASP, AMSA - 6-MP, ARA-C
|
CR
|
|
ID2 |
32 |
F |
AML |
46,XX |
NA |
Induction: scheme 3+7
Consolidation: 4 cycles HD-ARA-C |
CR |
Family2
|
ID3
|
62
|
M
|
AML
|
46,XY,del(16)(q22qter)[7]/46,XY[13]
|
JAK2 p.V617F (VAF=3.55%)
|
Induction: scheme ICE Consolidation: - 2 cycles HD-ARA-C -
autologous PBSC transplant Reinduction: scheme FLAI
Consolidation: 1 cycle HD-ARA-C Allogeneic haploidentical PBSC
transplant
|
CR
post-Allo-TMO
|
|
ID4 |
53 |
M |
Ph+ CML |
46,XY,t(9;22) |
NA |
Imatinib; dasatinib;
ponatinib |
Molecular remission |
Family3 |
ID5 |
74 |
M |
AML |
46,XY [20] |
ASXL1 p.R417*
(VAF=10.75%) |
Induction: ICE scheme Reinduction: FLAI
plus Ven scheme. Allogeneic haploidentical PBSC transplant Salvage
therapy: azacitidine plus Ven |
Dead |
|
|
|
|
|
|
TET2 p.L1721Ffs*24 (VAF=10.83%) |
|
|
|
|
|
|
|
|
TET2 p.D77Tfs*18 (VAF=21.12%) |
|
|
|
|
|
|
|
|
U2AF1 p.S34F (VAF=11.5%) |
|
|
|
ID6 |
61 |
M |
AML |
46,XY,+8 |
NA |
Induction: ICE scheme
Consolidation: - IC scheme - 1 cycle ARA-C plus reinfusion of
autologous PBSC Allogeneic PBSC transplant from a VUD |
Dead |
Family4
|
ID7
|
58
|
F
|
AML with myelodisplastic features
|
46,XX [15]
|
SF3B1 p.K700E (VAF=33.7%)
|
Induction: 3+7 scheme plus GO Reinduction:
- FLAI plus Ven scheme
-Azacitidine plus Ven 1 cycle Allogeneic haploidentical PBSC
transplant
|
Dead
|
|
|
|
|
|
|
TET2 p.T229Nfs*25 (VAF=32.93%) |
|
|
|
|
|
|
|
|
TET2 p.E566* (VAF=31.32%) |
|
|
|
|
|
|
|
|
ETV6 p.V158Pfs*10 (VAF=17.87%) |
|
|
|
ID8 |
73 |
M |
AML with myelodisplastic features |
46,XY [20] |
IDH2 p.R140Q |
Azacitidine plus Ven 8 cycles |
CR |