{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:09:06Z","timestamp":1760188146119},"reference-count":24,"publisher":"Wiley","issue":"5-6","license":[{"start":{"date-parts":[[2002,12,9]],"date-time":"2002-12-09T00:00:00Z","timestamp":1039392000000},"content-version":"vor","delay-in-days":38,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> We report the clinical, cytogenetic, fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH) and molecular findings in a 54\u2010yr\u2010old male patient diagnosed with B\u2010cell chronic lymphocytic leukemia (B\u2010CLL), who showed progression to a diffuse large B\u2010cell 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<jats:sub>H<\/jats:sub> rearrangement of the bcl\u20102 gene. FISH studies using LSI bcl\u20102\/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\u2010CLL. The low percentage of cells with the 13q14 deletion and bcl\u20102\/IgH rearrangement suggests that they were secondary events that resulted from clonal evolution. Our patient had a short survival (9\u2003months) and a clear lack of response to several therapeutic agents, confirming the association of p53 gene deletion and karyotypic evolution with disease progression.<\/jats:p>","DOI":"10.1034\/j.1600-0609.2002.02793.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T18:53:57Z","timestamp":1047408837000},"page":"309-314","source":"Crossref","is-referenced-by-count":6,"title":["Cytogenetic, FISH, and molecular studies in a case of B\u2010cell chronic lymphocytic leukemia with karyotypic evolution"],"prefix":"10.1034","volume":"69","author":[{"given":"Christian","family":"Chena","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxana","family":"Cerretini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda 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