Case Report

De Novo Acute Myeloid Leukemia with Combined CBFB-MYH11 and BCR-ABL1 Gene Rearrangements: A Case Report and Review of Literature

Table 1

AML cases with concurrent inv(16) and BCR-ABL genetic abnormalities in this study and selected cases from literature review.

Sex/ageAML subtypeFAB classificationKaryotypeOther mutation assay(s)Clinical coursePMID

M/40De novoM4eo46,XY,inv(16)(p13q22)[17]/46,XY,idem,t(9;22)(q34:q11)[3]Not performedChemotherapy and HSCT; stable remission8250017
F/9De novoM4eo46,XX,inv(16)(p13q22)[21]/46,XX,t(9;22)(q34;q11),inv(16)(p13q22)[8]/46,XX [10]Not performedChemotherapy and HSCT; died soon after HSCT1728947
M/13De novoM446,XY,inv(16)(p13.1q22)[2]/46,idem,del(7)(q22q32)[16]/46,idem,t(9;22;19)(q34;q11.2;p13.1)[2]Not performedCytarabine, daunomycin, etoposide + gemtuzumab20513535
F/40De novoM146,XX,inv(16)(p13q22)[4]/46,XX,t(9;22)(q34;q11),inv(16)(p13q22)[18]Not performedOne cycle of conventional induction therapy11368385
M/63De novoM4eoAt diagnosis: 46,XY,inv(16)(p13q22)[20]/46,XY,t(9;22)(q34;q11),inv(16)(p13q22)[2]
At last relapse: 46,XY,inv(16)(p13q22)[10]/46,XY,+8,t(9;22)(q34;q11),inv(16)(p13q22)[8]
Not performedHydroxycarbamide, daunorubicin/ cytarabine and imatinib with relapse in 3 months. Fludarabine, cytarabine, G-CSF and Idarubicine with complete remission but relapsed 10 months later21275954
F/49Therapy- relatedM4eo46,XX,inv(16)(p13.1q22)[5]/46,XX,t(9;22)(q34;q11.2)[7]/46,XX[8]Not performedImatinib; remission in 3 weeks22370710
MDe novoM4eo46,XY,inv(16)(p13.1q22)[3]/46,idem,t(9;22)(q34;q11.2)[17]None (NGS, multiple genes)Fludarabine, cytarabine, G-CSF and Idarubicine + dasatinib; stable remission28253536
M/55De novoM4eoAt Diagnosis: 46,XY,inv(16)(p13.1q22)[2]/46,sl,t(9;22)(q34;q11.2)[20]/46,XX[1].nuc ish(MYH11,CBFB)x3(MYH11 con CBFBx2)[190/200]/(ABL1,BCR)x3(ABL1 con BCRx2)[188/200]
13-day follow-up: 46,XY[2].nuc ish(ABL1,BCR)x3(ABL1 con BCRx2)[88/350]/(MYH11,CBFB)x3(MYH11 con CBFBx2)[95/350]
45-day follow-up: 46,XY[20]
188-day follow-up: 51,XY,+8,+9,+13,inv(16)(p13.1q22),+18,+22[19]/46,XY[1].nuc ish(MYH11,CBFB)x3(MYH11 con CBFBx2)[155/200]/(ABL1x2∼3,BCRx2∼3)[372/500]
None (NGS, multiple genes)Gemtuzumab ozogamicin induction + Dasatinib; a first relapse diagnosed 6 months from initial diagnosis. Hospice.Current case