Structural aberrations of chromosomes 17 and 12 in chronic B-cell disorders.
OBJECTIVE
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.
Cerretini
Roxana
R
Department of Genética, Academia Nacional de Medicina, Buenos Aires, Argentina. rcerretini@hotmail.com
Chena
Christian
C
Giere
Isabel
I
Sarmiento
Marcela
M
Arrossagaray
Guillermo
G
Rodríguez
Andrea
A
Pérez Bianco
Raúl
R
de Dios Soler
Marcela
M
Narbaitz
Marina
M
Slavutsky
Irma
I
D000368:Aged; D001706:Biopsy; D001853:Bone Marrow / Q000648:ultrastructure; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017403:In Situ Hybridization; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008198:Lymph Nodes / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic; D014314:Trisomy