PMID- 12460236
OWN - NLM
STAT- MEDLINE
DCOM- 20030312
LR  - 20190910
IS  - 0902-4441 (Print)
IS  - 0902-4441 (Linking)
VI  - 69
IP  - 5-6
DP  - 2002 Nov-Dec
TI  - Cytogenetic, FISH, and molecular studies in a case of B-cell chronic lymphocytic 
      leukemia with karyotypic evolution.
PG  - 309-14
AB  - We report the clinical, cytogenetic, fluorescence in situ hybridization (FISH) 
      and molecular findings in a 54-yr-old male patient diagnosed with B-cell chronic 
      lymphocytic leukemia (B-CLL), who showed progression to a diffuse large B-cell 
      lymphoma (Richter's syndrome). Genetic studies were performed at diagnosis and 
      during the Richter's transformation (RT). A clonal karyotype with two dicentric 
      chromosomes, psu dic(12,21)(q24;q10) and dic(17,18)(p11.2;p11.2), was found. Both 
      rearrangements were confirmed by FISH. Molecular cytogenetics analysis using p53 
      probe showed monoallelic loss of this tumor suppressor gene in 43.8% and 77.3% of 
      cells for the first and the second studies, respectively). In both studies, 
      deletions of D13S319 (18% and 12% of cells) and D13S25 loci (13% and 12% of 
      cells) at 13q14 were found. Polymerase chain reaction analysis showed the MBR/JH 
      rearrangement of the bcl-2 gene. FISH studies using LSI bcl-2/IgH probe allowed 
      quantifying the clonal cell population with this rearrangement (4% and 6.6% of 
      cells at diagnosis and RT, respectively). To our knowledge, this is the first 
      case with a psu dic(12,21) described in B-CLL. The low percentage of cells with 
      the 13q14 deletion and bcl-2/IgH rearrangement suggests that they were secondary 
      events that resulted from clonal evolution. Our patient had a short survival (9 
      months) and a clear lack of response to several therapeutic agents, confirming 
      the association of p53 gene deletion and karyotypic evolution with disease 
      progression.
FAU - Chena, Christian
AU  - Chena C
AD  - Department of Genetics, Instituto de Investigaciones Hematologicas 'Mariano R. 
      Castex', Academia Nacional de Medicina, Buenos Aires, Argentina. 
      cpchena@hematologia.anm.edu.ar
FAU - Cerretini, Roxana
AU  - Cerretini R
FAU - Noriega, Maria Fernanda
AU  - Noriega MF
FAU - Narbaitz, Marina
AU  - Narbaitz M
FAU - Scolnik, Mariano
AU  - Scolnik M
FAU - Palacios, Maria Fernanda
AU  - Palacios MF
FAU - Neme, Daniela
AU  - Neme D
FAU - Bruno, Salvador
AU  - Bruno S
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  - Cytogenetic Analysis/*methods
MH  - Disease Progression
MH  - Gene Deletion
MH  - Gene Rearrangement
MH  - Genes, p53
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Polymerase Chain Reaction
EDAT- 2002/12/04 04:00
MHDA- 2003/03/13 04:00
CRDT- 2002/12/04 04:00
PHST- 2002/12/04 04:00 [pubmed]
PHST- 2003/03/13 04:00 [medline]
PHST- 2002/12/04 04:00 [entrez]
AID - 2o793 [pii]
AID - 10.1034/j.1600-0609.2002.02793.x [doi]
PST - ppublish
SO  - Eur J Haematol. 2002 Nov-Dec;69(5-6):309-14. doi: 
      10.1034/j.1600-0609.2002.02793.x.