title: Two unbalanced translocations, t(12;22)(p13;q11) and t(12;?)(p13;?), in an aggressive chronic B-cell leukemia: TEL gene analysis using FISH.
abstract: The translocation t(12;22)(p13;q11) has been consistently described in myeloid malignancies and shown to result from a fusion between the TEL and MN1 genes. Previously described deletions of 12p in acute lymphoblastic leukemias have been recently shown to harbor undetected translocations involving the TEL gene at 12p13. We document a case of an aggressive chronic B-cell leukemia whose cells had trisomy 12 and two unbalanced translocations involving 12p13, including a t(12;22)(p13;q11) as shown by conventional cytogenetics and fluorescence in situ hybridization (FISH). The 12p13 breakpoint of the t(12;22)(p13;q11) was telomeric to the TEL gene, and the second unbalanced translocation with breakpoint 12p13 resulted in the deletion of TEL. This case demonstrates that TEL gene deletions may be relevant in cases of mature B-lymphoproliferative diseases.
authors.affiliation: Academic Department of Hematology, Royal Marsden Hospital, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Conchon
authors.forename: A P
authors.initials: AP
authors.lastname: McManus
authors.forename: T
authors.initials: T
authors.lastname: Min
authors.forename: S H
authors.initials: SH
authors.lastname: Maljaie
authors.forename: A
authors.initials: A
authors.lastname: Crawford
authors.forename: V
authors.initials: V
authors.lastname: Brito-Babapulle
authors.forename: E
authors.initials: E
authors.lastname: Matutes
authors.forename: D
authors.initials: D
authors.lastname: Catovsky
mesh_terms: D002881:Chromosomes, Human, Pair 12; D002892:Chromosomes, Human, Pair 22; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008875:Middle Aged; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D004268:DNA-Binding Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein