PMID- 14703693
OWN - NLM
STAT- MEDLINE
DCOM- 20040121
LR  - 20190911
IS  - 0902-4441 (Print)
IS  - 0902-4441 (Linking)
VI  - 71
IP  - 6
DP  - 2003 Dec
TI  - Structural aberrations of chromosomes 17 and 12 in chronic B-cell disorders.
PG  - 433-8
AB  - 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.
FAU - Cerretini, Roxana
AU  - Cerretini R
AD  - Department of Genetica, Academia Nacional de Medicina, Buenos Aires, Argentina. 
      rcerretini@hotmail.com
FAU - Chena, Christian
AU  - Chena C
FAU - Giere, Isabel
AU  - Giere I
FAU - Sarmiento, Marcela
AU  - Sarmiento M
FAU - Arrossagaray, Guillermo
AU  - Arrossagaray G
FAU - Rodriguez, Andrea
AU  - Rodriguez A
FAU - Perez Bianco, Raul
AU  - Perez Bianco R
FAU - de Dios Soler, Marcela
AU  - de Dios Soler M
FAU - Narbaitz, Marina
AU  - Narbaitz M
FAU - Slavutsky, Irma
AU  - Slavutsky I
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Haematol
JT  - European journal of haematology
JID - 8703985
SB  - IM
MH  - Aged
MH  - Biopsy
MH  - Bone Marrow/ultrastructure
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics
MH  - Lymph Nodes/ultrastructure
MH  - Male
MH  - Middle Aged
MH  - Translocation, Genetic
MH  - Trisomy
EDAT- 2004/01/06 05:00
MHDA- 2004/01/22 05:00
CRDT- 2004/01/06 05:00
PHST- 2004/01/06 05:00 [pubmed]
PHST- 2004/01/22 05:00 [medline]
PHST- 2004/01/06 05:00 [entrez]
AID - 10.1046/j.0902-4441.2003.00163.x [doi]
PST - ppublish
SO  - Eur J Haematol. 2003 Dec;71(6):433-8. doi: 10.1046/j.0902-4441.2003.00163.x.