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Structural aberrations of chromosomes 17 and 12 in chronic B‐cell disorders
Author(s) -
Cerretini Roxana,
Chena Christian,
Giere Isabel,
Sarmiento Marcela,
Arrossagaray Guillermo,
Rodríguez Andrea,
Bianco Raúl Pérez,
Soler Marcela de Dios,
Narbaitz Marina,
Slavutsky Irma
Publication year - 2003
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1046/j.0902-4441.2003.00163.x
Subject(s) - chromosomal translocation , chronic lymphocytic leukemia , somatic evolution in cancer , fluorescence in situ hybridization , comparative genomic hybridization , karyotype , trisomy , biology , chromosome , lymph node , cytogenetics , pathology , breakpoint cluster region , leukemia , genetics , medicine , immunology , cancer , gene
Objectives: 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. Methods: 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. Results: 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. Conclusions: 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.