title: A case of adult T-cell leukaemia/lymphoma characterized by multiplex-fluorescence in situ hybridization, comparative genomic hybridization, fluorescence in situ hybridization and cytogenetics.
abstract: Adult T-cell leukaemia/lymphoma (ATLL) is a neoplasm of mature helper (CD4) T lymphocytes. Little is known, however, about the chromosome aberrations associated with the pathogenesis of this malignancy. Using molecular cytogenetic techniques we, therefore, investigated a 44-year-old man who had a 7-year history of ATLL with cutaneous involvement mimicking primary cutaneous T-cell lymphoma. Conventional cytogenetics revealed gross chromosomal changes with chromosome numbers ranging from 71 to 82. There were structural abnormalities of chromosomes 7 and 9, partial deletions of chromosomes 1, 3, 5 and 6, and loss of chromosomes 2, 4, 9, 11--14, 21 and 22. Multiplex-fluorescence in situ hybridization (M-FISH) identified two derivative chromosomes, der(6)t(6;7)(q16;q21) and der(7)t(6;7)(q16;q21)ins(6;12)(q2?;?), and a deletion of chromosome 1p. Conventional FISH confirmed the M-FISH findings. Comparative genomic hybridization of the blood revealed gains of DNA copy number at 1q12--25, 6p24--25, 9p23, 16p13--q13, 17q11--21, 19p13 and 20q13 and loss at 11p15 while lymph nodes showed gains at 3p22--24, 3q27--29, 7q36 and 15q26 and losses at 2p24--25, 2q37, 10p14--15, 11p15, 13q33--34 and 16p13.3. No DNA copy number changes were seen in a skin lesion. These results show the extent of genetic abnormalities within this malignancy.
authors.affiliation: Skin Tumour Unit, St John's Institute of Dermatology, St Thomas' Hospital, London SE1 7EH, UK. mxmayo@hotmail.com
authors.forename: X
authors.initials: X
authors.lastname: Mao
authors.forename: D M
authors.initials: DM
authors.lastname: Lillington
authors.forename: B
authors.initials: B
authors.lastname: Czepulkowski
authors.forename: B D
authors.initials: BD
authors.lastname: Young
authors.forename: R
authors.initials: R
authors.lastname: Russell-Jones
authors.forename: S
authors.initials: S
authors.lastname: Whittaker
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D012878:Skin Neoplasms / Q000235:genetics*