title: A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes.
abstract: We have applied fluorescence in situ hybridization (FISH) using chromosome-specific libraries from all 24 chromosomes on metaphase spreads from bone marrow cells, in order to resolve the chromosomal changes in leukemic cells from a 10-year-old boy with acute lymphoblastic leukemia (ALL), near-triploidy, and a subsequent poor outcome. The FISH analysis revealed a pattern of chromosome gains and losses that differed from all cases previously described. Most of the affected chromosomes were present in three copies (trisomy for chromosomes 1, 2, 5, 6, 7, 11, 12, 13, 14, 16, 17, 18, 19, 20, and 22), but the patient had four copies of chromosomes 8 and 21, two copies of chromosomes 3, 4, 9, 10, 15, and X, and one Y chromosome. No structural abnormalities could be detected. Thus, the karyotype of the malignant clone was 66,XXY-3,-4,+8,-9,-10,-15,+21.
authors.affiliation: Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Nordgren
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: S
authors.initials: S
authors.lastname: Söderhäll
authors.forename: A
authors.initials: A
authors.lastname: Porwit-MacDonald
authors.forename: E
authors.initials: E
authors.lastname: Blennow
mesh_terms: D002648:Child; D002874:Chromosome Mapping; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011003:Ploidies; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011379:Prognosis; D014314:Trisomy