title: Structural aberrations of chromosome 7 revealed by a combination of molecular cytogenetic techniques in myeloid malignancies.
abstract: In bone marrow cells of 33 patients with myelodysplastic syndrome and acute myeloid leukemia, structural rearrangements of chromosome 7 were found with conventional G-banding: 8 with deletions 7q and 25 with translocations. In 29 of the patients, complex karyotypes were confirmed using multicolor fluorescence in situ hybridization (mFISH). Commercial probes (Abbot Molecular) were used for 7q22, 7q31, and 7q35, the regions most frequently deleted in myeloid malignancies. In three cases without deletions, high-resolution multicolor banding (mBAND) for chromosome 7 revealed other aberrations. Five groups of chromosomal rearrangements were established: (a) deletion 7q as a sole aberration (2 cases), (b) deletion 7q and complex karyotypes (6 cases), (c) combined translocations and deletions of 7q (17 cases), (d) combined translocation and deletion 7p (5 cases), and (e) translocation of chromosomes 7 without deletion 7p or 7q (3 cases). Deletions of all three FISH-screened regions were the most frequent, with heterogeneous breakpoints. The region 7p13.2 approximately p15.2 was most commonly deleted. Most of the deletions were cryptic, not detectable with conventional cytogenetics. Aberrations of chromosome 7 are associated with a very poor outcome; survival time in our cohort was short (median 7 months).
authors.affiliation: Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20 Prague 2, Czech Republic. Jana.Brezinova@uhkt.cz
authors.forename: Jana
authors.initials: J
authors.lastname: Brezinová
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Zemanová
authors.forename: Sárka
authors.initials: S
authors.lastname: Ransdorfová
authors.forename: Lenka
authors.initials: L
authors.lastname: Pavlistová
authors.forename: Libuse
authors.initials: L
authors.lastname: Babická
authors.forename: Lucie
authors.initials: L
authors.lastname: Housková
authors.forename: Jela
authors.initials: J
authors.lastname: Melichercíková
authors.forename: Magda
authors.initials: M
authors.lastname: Sisková
authors.forename: Jaroslav
authors.initials: J
authors.lastname: Cermák
authors.forename: Kyra
authors.initials: K
authors.lastname: Michalová
mesh_terms: D000208:Acute Disease; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D053208:Kaplan-Meier Estimate; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics / Q000473:pathology*; D011379:Prognosis; D014178:Translocation, Genetic