| Autor: |
Cerretani, Roxana, Chena, Christian, Giere, Isabel, Sarmiento, Marcela, Arrossagaray, Guillermo, Rodríguez, Andrea, Bianco, Raúl Pérez, Soler, Marcela de Dios, Narbaiz, Marina, Slavutsky, Irma |
| Předmět: |
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| Zdroj: |
European Journal of Haematology; Dec2003, Vol. 71 Issue 6, p433, 6p |
| Abstrakt: |
Cerretini R, Chena C, Giere I, Sarmiento M, Arrossagaray G, Rodríguez A, Pérez Bianco R, de Dios Soler M, Narbaitz M, Slavutsky I. Structural aberrations of chromosomes 17 and 12 in chronic B-cell disorders. Eur J Haematol 2003: 71: 433–438. Blackwell Munksgaard 2003. Genomic aberrations can now be identified in approximately 80% of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) patients. In the present study, four new structural changes involving chromosomes 17 and 12 in CLL/SLL patients are described. Five patients were selected for inclusion in the present report among a total of 92 cases with diagnosis of CLL/SLL. Cytogenetic studies and fluorescence in situ hybridization (FISH) analysis to detect some of the most frequent cryptic aberrations occurring in CLL/SLL patients were performed. Clinical studies are also described. Four cases showed structural rearrangements of chromosome 17. A psu dic(17;2)(p11.2;p21), leading to p53 deletion, was observed in a patient who developed a mixed cellularity Hodgkin's disease coexisting with the CLL/SLL in the same lymph node. Epstein–Barr virus was detected in the Reed–Sternberg cells. Two cases had a balanced translocation t(2;17)(p21;q23). Both patients showed trisomy 12 and clonal evolution and one of them also had 11q deletion. In addition, a der(17)t(12;17)(q13;q25) as a part of a complex karyotype, and a complex translocation t(5;12;19) (q15;p11;q13) were also found. Four patients had an adverse clinical outcome and died because of disease progression. Four unreported nonrandom chromosome aberrations in CLL/SLL patients, one of them who might represent a new recurrent abnormality, are described. These uncommon abnormalities, mostly associated with evolving disease, may have implications for the understanding of genetic events associated with disease progression in this pathology. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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