title: Cytogenetic findings in terminal large cell transformation in a case of Sézary syndrome.
abstract: A long-lasting case of Sézary syndrome, whose chromosomal pattern had been repeatedly investigated during a follow-up period of several years, was studied in the terminal transforming phase, which took place more than 5 years after the initial diagnosis. To the best of the authors' knowledge, this appears to be the first instance of cytogenetic studies carried out in a large cell transformation of cutaneous T-cell lymphoma. The results clearly indicate that the atypical large cells seen in the transforming phase were clonally derived from the pre-existing cerebriform cells. Newly detected relevant cytogenetic findings were: a) drop of tumor cell ploidy from hypotetraploid to hypotriploid, with striking chromosomal imbalance; b) additional structural aberrations of chromosomes 2 and 7, which had been already preferentially involved in the earlier phases, and involvement of the previously unaffected chromosomes 1, 3, and X; and c) presence in 100% of the abnormal metaphases of a large HSR on the long arm of chromosome 17.
authors.affiliation: Cattedra di Genetica Medica, Università degli Studi, L'Aquila, Italy.
authors.forename: E
authors.initials: E
authors.lastname: D'Alessandro
authors.forename: A
authors.initials: A
authors.lastname: De Pasquale
authors.forename: C
authors.initials: C
authors.lastname: Ligas
authors.forename: M L
authors.initials: ML
authors.lastname: Lo Re
authors.forename: M
authors.initials: M
authors.lastname: Di Cola
authors.forename: G
authors.initials: G
authors.lastname: Del Porto
authors.forename: D
authors.initials: D
authors.lastname: Quaglino
mesh_terms: D000368:Aged; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D011123:Polyploidy; D012751:Sezary Syndrome / Q000235:genetics* / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D013601:T-Lymphocytes / Q000473:pathology