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Background  A relevant role of septins in leukemogenesis has been uncovered by their involvement as fusion partners in  MLL -related leukemia. Recently, we have established the  MLL-SEPT2  gene fusion as the molecular abnormality subjacent to the translocation t(2;11)(q37;q23) in therapy-related acute myeloid leukemia. In this work we quantified  MLL  and  SEPT2  gene expression in 58 acute myeloid leukemia patients selected to represent the major AML genetic subgroups, as well as in all three cases of  MLL-SEPT2 -associated myeloid neoplasms so far described in the literature.    Methods  Cytogenetics, fluorescence in situ hybridization (FISH) and molecular studies (RT-PCR, qRT-PCR and qMSP) were used to characterize 58 acute myeloid leukemia patients (AML) at diagnosis selected to represent the major AML genetic subgroups:  CBFB-MYH11  (n = 13),  PML-RARA  (n = 12);  RUNX1-RUNX1T1  (n = 12), normal karyotype (n = 11), and  MLL  gene fusions other than  MLL-SEPT2  (n = 10). We also studied all three  MLL-SEPT2  myeloid neoplasia cases reported in the literature, namely two AML patients and a t-MDS patient.    Results  When compared with normal controls, we found a 12.8-fold reduction of wild-type  SEPT2  and  MLL-SEPT2  combined expression in cases with the  MLL-SEPT2  gene fusion (p = 0.007), which is accompanied by a 12.4-fold down-regulation of wild-type  MLL  and  MLL-SEPT2  combined expression (p = 0.028). The down-regulation of  SEPT2  in  MLL-SEPT2  myeloid neoplasias was statistically significant when compared with all other leukemia genetic subgroups (including those with other  MLL  gene fusions). In addition,  MLL  expression was also down-regulated in the group of  MLL  fusions other than  MLL-SEPT2 , when compared with the normal control group (p = 0.023)    Conclusion  We found a significant down-regulation of both  SEPT2  and  MLL  in  MLL-SEPT2  myeloid neoplasias. In addition, we also found that  MLL  is under-expressed in AML patients with  MLL  fusions other than  MLL-SEPT2 .

Both SEPT2 and MLL are down-regulated in MLL-SEPT2therapy-related myeloid neoplasia