Family
Patient ID
Age at diagnosis
Sex
Disease
Karyotype
Molecular Biology at diagnosis
Chemiotherapeutic Treatment
Follow-up
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