Document Detail

Structural aberrations of chromosomes 17 and 12 in chronic B-cell disorders.
MedLine Citation:
PMID:  14703693     Owner:  NLM     Status:  MEDLINE    
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.
Roxana Cerretini; Christian Chena; Isabel Giere; Marcela Sarmiento; Guillermo Arrossagaray; Andrea Rodríguez; Raúl Pérez Bianco; Marcela de Dios Soler; Marina Narbaitz; Irma Slavutsky
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of haematology     Volume:  71     ISSN:  0902-4441     ISO Abbreviation:  Eur. J. Haematol.     Publication Date:  2003 Dec 
Date Detail:
Created Date:  2004-01-05     Completed Date:  2004-01-21     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8703985     Medline TA:  Eur J Haematol     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  433-8     Citation Subset:  IM    
Department of Genética, Academia Nacional de Medicina, Buenos Aires, Argentina.
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MeSH Terms
Bone Marrow / ultrastructure
Chromosome Aberrations*
Chromosomes, Human, Pair 12 / genetics*
Chromosomes, Human, Pair 17 / genetics*
Gene Deletion
In Situ Hybridization
In Situ Hybridization, Fluorescence
Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
Lymph Nodes / ultrastructure
Middle Aged
Translocation, Genetic

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