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2004-02-01

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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/172770

Genetic characterization of Sezary's syndrome by conventional cytogenetics and cross-species color banding fluorescent in situ hybridization

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Background and objectives: Sezary's syndrome is a peripheral T-cell neoplasm characterized by a pruritic exfoliative or infiltrated erythroderma, lymphadenopathies, and atypical T lymphocytes in the peripheral blood. Cytogenetic studies are scarce. This study was designed to increase cytogenetic information on this disorder. Design and methods: peripheral blood samples were collected from 21 patients with Sezary's syndrome (10 men, 11 women, mean age 64 years) and analyzed by conventional cytogenetics (72-hr cultures with phytohemagglutinin). For a better characterization of multiple chromosomal rearrangements, cross-species color banding (RxFISH) was used in four cases. Results: fifteen (71.4%) of the 21 cases showed cytogenetic aberrations, with the karyotype being complex in 14. Among the 15 patients with an abnormal karyotype, 8 presented a diploid/near-diploid karyotype and 7 a near-tetraploid karyotype. The chromosomes most frequently involved were 1, 6, 8, 9, 10, 11, and 17. The most common structural rearrangements affected 1q, 2q, 6q23-27, and 8q22. Monosomies of chromosomes 9 and 10 and trisomies of chromosome 18 were recurrently observed. A statistical trend between abnormal and complex karyotypes, the presence of monosomy 10, the number of Sezary cells, and a decreased overall survival was observed. RxFISH technology allowed the description of 27 previously undetected chromosomal abnormalities. Interpretation and conclusions: abnormal karyotypes, particularly complex karyotypes, were frequently detected in patients with Sezary's syndrome. Monosomy 10 was the most frequent recurrent cytogenetic marker (73% in abnormal cases). There was a high diversity of chromosomal breakpoints. RxFISH is a useful novel technology for redefining complex karyotypes.

Matèries

Fluorescència, Hibridació, Cariotips, Genètica

Matèries (anglès)

Fluorescence, Hybridization, Karyotypes, Genetics

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Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Medicina)

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ESPINET SOLÀ, Blanca, et al. Genetic characterization of Sezary's syndrome by conventional cytogenetics and cross-species color banding fluorescent in situ hybridization. Haematologica. 2004. Vol. 89, num. 2, pags. 165-173. ISSN 0390-6078. [consulted: 3 of August of 2026]. Available at: https://hdl.handle.net/2445/172770

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