title: Cryptic chromosome 9q34 deletion generates TAF-Ialpha/CAN and TAF-Ibeta/CAN fusion transcripts in acute myeloid leukemia.
abstract: 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.
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Policlinico Monteluce, via Brunamonti 51, 06122 Perugia, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Rosati
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Gianluca
authors.initials: G
authors.lastname: Barba
authors.forename: Paolo
authors.initials: P
authors.lastname: Gorello
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.forename: Giovanni
authors.initials: G
authors.lastname: Roti
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.forename: Teresa
authors.initials: T
authors.lastname: Aloisi
authors.forename: Franco
authors.initials: F
authors.lastname: Aversa
authors.forename: Massimo Fabrizio
authors.initials: MF
authors.lastname: Martelli
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000328:Adult; D001483:Base Sequence; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D004268:DNA-Binding Proteins; D015972:Gene Expression Regulation, Neoplastic; D018380:Hematopoietic Stem Cell Transplantation; D056488:Histone Chaperones; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D056488:Histone Chaperones; C085914:NUP214 protein, human; D028861:Nuclear Pore Complex Proteins; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; C513473:SET protein, human; C481746:SET-CAN fusion protein, human; D014157:Transcription Factors