title: Submicroscopic deletions in an acute myeloid leukemia case with a four-way t(8;11;16;21).
abstract: The t(8;21)(q22;q22) rearrangement is observed in about 15% of acute myelocitic leukemia (AML) cases, while variant t(8;21) translocations are detected in 6-10% of AML patients positive for the 5'RUNX1/3'CBFA2T1 fusion gene. We report a detailed molecular cytogenetic analysis of a four-way variant t(8;11;16;21)(q22;q14;q12;q22) performed by fluorescence in situ hybridization with specific BAC and PAC clones. The study demonstrated the loss of several megabases belonging to chromosomes 11 and 16 whereas no deletion was detected on der(21). These findings suggest that a precise breakpoint characterization could identify submicroscopic genomic deletions whose meaning remains to be defined.
authors.affiliation: Department of Hematology, University of Bari, Policlinico, Piazza G. Cesare 11, 70124 Bari, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Albano
authors.forename: Giorgina
authors.initials: G
authors.lastname: Specchia
authors.forename: Luisa
authors.initials: L
authors.lastname: Anelli
authors.forename: Arcangelo
authors.initials: A
authors.lastname: Liso
authors.forename: Antonella
authors.initials: A
authors.lastname: Zagaria
authors.forename: Alessandra
authors.initials: A
authors.lastname: Santoro
authors.forename: Salvatore
authors.initials: S
authors.lastname: Mirto
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Liso
authors.forename: Mariano
authors.initials: M
authors.lastname: Rocchi
mesh_terms: D000208:Acute Disease; D001854:Bone Marrow Cells / Q000473:pathology; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion; D014178:Translocation, Genetic