Document Detail


Structural aberrations of chromosomes 17 and 12 in chronic B-cell disorders.
MedLine Citation:
PMID:  14703693     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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    
Affiliation:
Department of Genética, Academia Nacional de Medicina, Buenos Aires, Argentina. rcerretini@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Aged
Biopsy
Bone Marrow / ultrastructure
Chromosome Aberrations*
Chromosomes, Human, Pair 12 / genetics*
Chromosomes, Human, Pair 17 / genetics*
Female
Gene Deletion
Humans
In Situ Hybridization
In Situ Hybridization, Fluorescence
Karyotyping
Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
Lymph Nodes / ultrastructure
Male
Middle Aged
Translocation, Genetic
Trisomy

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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