Structural aberrations of chromosomes 17 and 12 in chronic B-cell disorders.

Abstract

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
• Journal: European journal of haematology (Eur J Haematol) Vol. 71 Issue 6 Pg. 433-8 (Dec 2003) ISSN: 0902-4441 [Print] England
• PMID: 14703693 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• 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