title: Clinical implications of fluorescence in situ hybridization analysis in 13 chronic myeloid leukemia cases: Ph-negative and variant Ph-positive.
abstract: Thirteen chronic myeloid leukemia (CML) patients, 10 with variant Philadelphia (Ph) translocations and 3 Ph negative cases, were analyzed by fluorescence in situ hybridization (FISH) with the use of BCR and ABL cosmid probes and a chromosome 22 painting probe. In the variant Ph translocations, the BCR-ABL fusion gene was located on the Ph chromosome; in 1 CML Ph-negative patient, the BCR-ABL fusion gene was located on the Ph chromosome; and, in 2 patients, it was located on chromosome 9. The chromosome 22 painting probe was detected on the third-party chromosome of the variant translocation, and in none of the variant translocations was there any detectable signal on chromosome 9. In CML patients with clonal evolution of a simple Ph, a signal of the chromosome 22 painting probe was detected on the der(9) of the Ph translocation. It was concluded that the variant Ph translocations evolved simultaneously in a three-way rearrangement. The clinical parameters of the 13 patients were similar to those of a large group of CML patients with a simple Ph translocation. It is suggested that, to determine the prognosis of CML patients with a complex karyotype, FISH analysis with a chromosome 22 painting probe be performed.
authors.affiliation: Department of Human Genetics, Hadassah Hebrew University Hospital, Hadassah Hebrew University Medical School, Jerusalem, Israel.
authors.forename: O
authors.initials: O
authors.lastname: Yehuda
authors.forename: D
authors.initials: D
authors.lastname: Abeliovich
authors.forename: S
authors.initials: S
authors.lastname: Ben-Neriah
authors.forename: I
authors.initials: I
authors.lastname: Sverdlin
authors.forename: R
authors.initials: R
authors.lastname: Cohen
authors.forename: G
authors.initials: G
authors.lastname: Varadi
authors.forename: R
authors.initials: R
authors.lastname: Orr
authors.forename: Y J
authors.initials: YJ
authors.lastname: Ashkenazi
authors.forename: J
authors.initials: J
authors.lastname: Heyd
authors.forename: G
authors.initials: G
authors.lastname: Lugassy
authors.forename: D
authors.initials: D
authors.lastname: Ben Yehuda
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020223:Chromosome Painting; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010677:Philadelphia Chromosome; D011379:Prognosis
chemical_list: D016044:Fusion Proteins, bcr-abl