To study the prognostic relevance of rare genetic aberrations in acute myeloid leukemia (AML), such as t(16;21), international collaboration is required. Two different types of t(16;21) translocations can be distinguished: t(16;21)(p11;q22), resulting in the FUS-ERG fusion gene; and t(16;21)(q24;q22), resulting in RUNX1-core binding factor (CBFA2T3). We collected data on clinical and biological characteristics of 54 pediatric AML cases with t(16;21) rearrangements from 14 international collaborative study groups participating in the international Berlin-Frankfurt-Münster (I-BFM) AML study group. The AML-BFM cohort diagnosed between 1997 and 2013 was used as a reference cohort. RUNX1-CBFA2T3 (n = 23) had significantly lower median white blood cell count (12.5 × 109/L, P = .03) compared with the reference cohort. FUS-ERG rearranged AML (n = 31) had no predominant French-American-British (FAB) type, whereas 76% of RUNX1-CBFA2T3 had an M1/M2 FAB type (M1, M2), significantly different from the reference cohort (P = .004). Four-year event-free survival (EFS) of patients with FUS-ERG was 7% (standard error [SE] = 5%), significantly lower compared with the reference cohort (51%, SE = 1%, P < .001). Four-year EFS of RUNX1-CBFA2T3 was 77% (SE = 8%, P = .06), significantly higher compared with the reference cohort. Cumulative incidence of relapse was 74% (SE = 8%) in FUS-ERG, 0% (SE = 0%) in RUNX1-CBFA2T3, compared with 32% (SE = 1%) in the reference cohort (P < .001). Multivariate analysis identified both FUS-ERG and RUNX1-CBFA2T3 as independent risk factors with hazard ratios of 1.9 (P < .0001) and 0.3 (P = .025), respectively. These results describe 2 clinically relevant distinct subtypes of pediatric AML. Similarly to other core-binding factor AMLs, patients with RUNX1-CBFA2T3 rearranged AML may benefit from stratification in the standard risk treatment, whereas patients with FUS-ERG rearranged AML should be considered high-risk.

• MeSH
• akutní myeloidní leukemie diagnóza   genetika   MeSH
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• lidské chromozomy, pár 16 genetika   MeSH
• lidské chromozomy, pár 21 genetika   MeSH
• mladiství MeSH
• nádorové supresorové proteiny genetika   MeSH
• předškolní dítě MeSH
• prognóza MeSH
• protein FUS vázající RNA genetika   MeSH
• protein PEBP2A2 genetika   MeSH
• regulace genové exprese u leukemie MeSH
• represorové proteiny genetika   MeSH
• retrospektivní studie MeSH
• transkripční regulátor ERG genetika   MeSH
• transkriptom MeSH
• translokace genetická * MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Research Support, N.I.H., Extramural MeSH
• Názvy látek
• CBFA2T3 protein, human MeSH Prohlížeč
• ERG protein, human MeSH Prohlížeč
• FUS protein, human MeSH Prohlížeč
• nádorové supresorové proteiny MeSH
• protein FUS vázající RNA MeSH
• protein PEBP2A2 MeSH
• represorové proteiny MeSH
• RUNX1 protein, human MeSH Prohlížeč
• transkripční regulátor ERG MeSH