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

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 megabas...

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Published inHaematologica (Roma) Vol. 92; no. 2; pp. 232 - 235
Main Authors ROSATI, Roberto, LA STARZA, Roberta, AVERSA, Franco, MARTELLI, Massimo Fabrizio, MECUCCI, Cristina, BARBA, Gianluca, GORELLO, Paolo, PIERINI, Valentina, MATTEUCCI, Caterina, ROTI, Giovanni, CRESCENZI, Barbara, ROMOLI, Silvia, ALOISI, Teresa
Format Journal Article
LanguageEnglish
Published Pavia Haematologica 01.02.2007
Ferrata Storti Foundation
Subjects
Biological and medical sciences
Hematologic and hematopoietic diseases
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Medical sciences
Genetic mapping
AML
9q34 cryptic deletion
Hematology
Deletion
Genetics
Malignant hemopathy
TAF-I/CAN fusion
Chromosome C9
Hybrid gene
Cryptic
Acute myelocytic leukemia
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Summary: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-Iα or TAF-Iβ moieties. We set up molecular assays to monitor the chimeric TAF-Iα/CAN and TAF-Iβ/CAN transcripts which, after hematopoietic stem cell transplantation from an HLA-identical sibling, were no longer detected.
ISSN:0390-6078
1592-8721
DOI:10.3324/haematol.10538