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Background  Acute myeloid leukemia (AML) is commonly characterized by several chromosomal abnormalities resulting in the formation of chimeric genes that play various roles in leukemogenesis. Translocations resulting in the  ETV6-ABL1  fusion gene are rare in AML and other hematologic malignancies with only thirty-two previously reported cases in the literature, five of which were AML.    Findings  Herein, we report the case of a 73-year-old male with acute myeloid leukemia arising from MDS, negative for  PDGFRA  and  PDGFRB , positive for bone marrow eosinophilia, rash, and marked fluid retention, which improved dramatically with imatinib therapy. Conventional cytogenetics revealed a t(3;9)(p25;q34), t(5;18)(q13;p11.2), and additional material of unknown origin at 12p11.2 in 2 out of 10 metaphases analyzed. Interphase FISH studies showed evidence of  ETV6  (12p13) and  ABL1  (9q34) rearrangements in 41.3 % and 5.7 % of the cells respectively. FISH studies on previously G-banded metaphases showed colocalization of  ABL1  and  ETV6  signals to the short arm of chromosome 3 at 3p25 suggesting a possible  ETV6-ABL1  fusion. Subtelomeric metaphase FISH studies also showed the presence of a subtelomere 3p signal on the long arm of the derivative 9, and no subtelomere 3p signal on the derivative chromosome 12.    Conclusions  These findings suggest a complex rearrangement involving an insertion of  ETV6  into 3p25 followed by a reciprocal translocation involving 3p25 and 9q34, resulting in a possible  ETV6-ABL1  fusion. This case highlights the importance of FISH to characterize complex rearrangements in myeloid malignancies, particularly those resulting in clinically significant chimeric genes.

biomarker research

A novel three-way rearrangement involving ETV6 (12p13) and ABL1 (9q34) with an unknown partner on 3p25 resulting in a possible ETV6-ABL1 fusion in a patient with acute myeloid leukemia: a case report and a review of the literature