title: Comparison between interphase and metaphase cytogenetics in detecting chromosome 7 defects in hematological neoplasias.
abstract: Monosomy 7 (-7) is one of the most common chromosomal abnormalities found in the leukemic cells of patients with acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS). Because patients with -7 have a poor prognosis, their identification is important for treatment planning. Conventionally, -7 is detected by the G-banding technique. This study examines the use of fluorescent in situ hybridization (FISH) methodology to detect -7 cells in interphase nuclei and metaphase chromosomes. Fifteen AML or MDS patients whose leukemic cells were found to have -7 by G-banding at disease presentation were studied. In 13 of these patients, -7 could be detected in interphase by FISH using a chromosome 7-specific centromeric DNA probe. The two patients whose leukemic cells were not detectable by interphase FISH had -7 and t(1q;7p), which were detectable by FISH in metaphase using a chromosome 7-specific painting probe. Metaphase FISH was particularly useful in further defining chromosome 7 defects in cells that contained aberrant or marker chromosomes. For example, in 6 patients, chromosome 7 sequences were detectable in aberrant or marker chromosomes by metaphase FISH, but not by G-banding. These results suggest that metaphase FISH is an important adjunct to conventional cytogenetic methods for defining chromosome 7 abnormalities in AML and MDS patients. Furthermore, interphase FISH is useful for follow-up studies in patients who are found informative for the FISH study at presentation.
authors.affiliation: Department of Laboratory Medicine, University of Texas, M. D. Anderson Cancer Center, Houston 77030.
authors.forename: L
authors.initials: L
authors.lastname: Zhao
authors.forename: J
authors.initials: J
authors.lastname: van Oort
authors.forename: A
authors.initials: A
authors.lastname: Cork
authors.forename: J C
authors.initials: JC
authors.lastname: Liang
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008677:Metaphase; D009190:Myelodysplastic Syndromes / Q000235:genetics*