title: Complex cytogenetic abnormalities in T-lymphoblastic lymphoma: resolution by spectral karyotyping.
abstract: We describe a case of T-lymphoblastic lymphoma (T-LBL) in a 13-year-old boy in which conventional cytogenetic analysis of lymph node tissue showed complex karyotypic aberrations including add(1p), add(2q), and multiple chromosomal deletions involving 5q, 7p, 7q, 13q, and 16q. Analysis by spectral karyotyping (SKY) refined add(1p) to a paracentric inversion of 1p, and add(2q) to an unbalanced translocation between chromosomes 2 and 4. The chromosomal deletions were simple deletions except del(5q), which was confirmed by SKY to be a cryptic unbalanced translocation between chromosomes 5 and 18. The present report illustrates that SKY technology is useful in identifying subtle translocations and resolving complex karyotypic aberrations in neoplastic disorders.
authors.affiliation: Hematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, People's Republic of China.
authors.forename: T S
authors.initials: TS
authors.lastname: Wan
authors.forename: S K
authors.initials: SK
authors.lastname: Ma
authors.forename: G C
authors.initials: GC
authors.lastname: Chan
authors.forename: L M
authors.initials: LM
authors.lastname: Ching
authors.forename: S Y
authors.initials: SY
authors.lastname: Ha
authors.forename: L C
authors.initials: LC
authors.lastname: Chan
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D003116:Color; D020732:Cytogenetic Analysis; D006801:Humans; D007621:Karyotyping; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic