title: Aberrations of chromosomes 9 and 22 in acute lymphoblastic leukemia cases detected by ES-fluorescence in situ hybridization.
abstract: A reciprocal translocation between chromosomes 9 and 22 creates oncogenic BCR/ABL fusion in the breakpoint region of the derivative chromosome 22. The aim of this study was to evaluate the importance of atypical fluorescence in situ hybridization (FISH) signal patterns in pediatric and adult acute lymphoblastic leukemia (ALL) cases. We evaluated t(9;22) translocation in 208 cases with ALL (294 tests), including 139 childhood and 69 adult cases by FISH technique using BCR/ABL extra signal (ES) probe. FISH signal patterns observed in pediatric ALL cases were as follows; Major-BCR/ABL (M-BCR/ABL) (1.4%), minor-BCR/ABL (m-BCR/ABL) (3.6%), trisomy 9 (4.3%), trisomy 22 (4.3%), trisomy or tetrasomy of both chromosomes 9 and 22 (2.9%), monosomy 9 (1.4%), monosomy 22 (0.7%), ABL gene amplification (1.4%), derivative chromosome 9 deletion (1.4%), and extra copies of the Philadelphia chromosome (1.4%). FISH signal patterns observed in adult ALL cases were as follows; M-BCR/ABL (5.8%), m-BCR/ABL (11.6%), two different cell clones with major and minor BCR/ABL signal pattern (2.9%), extra copies of Philadelphia chromosome (4.3%), derivative chromosome 9 deletion (1.4%), trisomy 9 (2.9%), tetraploidy (1.4%), monosomy 9 (1.4%), trisomy 22 (1.4%), and coexistence of both trisomy 22 and monosomy 9 (1.4%). Trisomy 9, trisomy 22, and polyploidy of chromosomes 9 and 22 were specific atypical FISH signal patterns for childhood B cell acute lymphoblastic leukemia (B-ALL) patients. However, monosomy 9 and ABL gene amplification were highly specific for childhood T cell acute lymphoblastic leukemia (T-ALL) patients. Our report presents the correlation between atypical FISH signal patterns and clinical findings of a large group of ALL cases.
authors.affiliation: Department of Medical Biology, Akdeniz University, Antalya, Turkey.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Cetin
authors.forename: Sezin
authors.initials: S
authors.lastname: Yakut
authors.forename: Ihsan
authors.initials: I
authors.lastname: Karadogan
authors.forename: Alphan
authors.initials: A
authors.lastname: Kupesiz
authors.forename: Aysen
authors.initials: A
authors.lastname: Timuragaoglu
authors.forename: Ozan
authors.initials: O
authors.lastname: Salim
authors.forename: Gulsun
authors.initials: G
authors.lastname: Tezcan
authors.forename: Guchan
authors.initials: G
authors.lastname: Alanoglu
authors.forename: Demircan
authors.initials: D
authors.lastname: Ozbalci
authors.forename: Volkan
authors.initials: V
authors.lastname: Hazar
authors.forename: Mehmet Akif
authors.initials: MA
authors.lastname: Yesilipek
authors.forename: Levent
authors.initials: L
authors.lastname: Undar
authors.forename: Guven
authors.initials: G
authors.lastname: Luleci
authors.forename: Sibel
authors.initials: S
authors.lastname: Berker
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D008297:Male; D008875:Middle Aged; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D014314:Trisomy; D055815:Young Adult
chemical_list: D016044:Fusion Proteins, bcr-abl