Open AccessCryptic chromosome 9q34 deletion generates TAF-I /CAN and TAF-I /CAN fusion transcripts in acute myeloid leukemia
Author(s) -
Roberto Rosati,
Roberta La Starza,
Gianluca Barba,
Paolo Gorello,
Valentina Pierini,
Caterina Matteucci,
Giovanni Roti,
Barbara Crescenzi,
Silvia Romoli,
Teresa Aloisi,
Franco Aversa,
Massimo F. Martelli,
Cristina Mecucci
Publication year - 2007
Publication title -
haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.782
H-Index - 142
eISSN - 1592-8721
pISSN - 0390-6078
DOI - 10.3324/haematol.10538
Subject(s) - myeloid leukemia , biology , fusion gene , genetics , gene , microbiology and biotechnology , cancer research
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-Ialpha or TAF-Ibeta moieties. We set up molecular assays to monitor the chimeric TAF-Ialpha/CAN and TAF-Ibeta/CAN transcripts which, after hematopoietic stem cell transplantation from an HLA-identical sibling, were no longer detected.