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Cytogenetic, FISH, and molecular studies in a case of B‐cell chronic lymphocytic leukemia with karyotypic evolution
Author(s) -
Chena Christian,
Cerretini Roxana,
Noriega María Fernanda,
Narbaitz Marina,
Scolnik Mariano,
Palacios María Fernanda,
Neme Daniela,
Bruno Salvador,
Slavutsky Irma
Publication year - 2002
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1034/j.1600-0609.2002.02793.x
Subject(s) - chronic lymphocytic leukemia , fluorescence in situ hybridization , biology , somatic evolution in cancer , gene rearrangement , cytogenetics , dicentric chromosome , microbiology and biotechnology , karyotype , leukemia , cancer research , population , pathology , genetics , gene , chromosome , medicine , environmental health
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/J H 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.