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Cryptic chromosome 9q34 deletion generates TAF-I/CAN and TAF-Iß/CAN fusion transcripts in acute myeloid leukemia

From the Hematology and Bone Marrow Transplantation Unit, University of Perugia, 06122 Perugia, Italy

Correspondence: Cristina Mecucci, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Policlinico Monteluce, via Brunamonti 51, 06122 Perugia, Italy. E-mail: crimecux{at}unipg.it

In hematologic malignancies chromosome aberrations generating fusion genes include cryptic deletions. In a patient with acute myeloid leukemia and normal karyo-type we discovered a new cryptic 9q34 deletion and here report the cytogenetic and molecular findings. The 9q34 deletion extends 2.5 megabases and juxtaposes the 5' TAF-I to the 3' CAN producing a TAF-I/CAN fusion gene. TAF-I/CAN transcribes into two fusion proteins bearing either TAF-I or TAF-Iß moieties. We set up molecular assays to monitor the chimeric TAF-I/CAN and TAF-Iß/CAN transcripts which, after hematopoietic stem cell transplantation from an HLA-identical sibling, were no longer detected.

Key words: AML, 9q34 cryptic deletion, TAF-I/CAN fusion.

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