title: Concurrent rearrangements of BCL2, BCL3, and BCL11A genes in atypical chronic lymphocytic leukemia.
abstract: The most frequent chromosomal aberrations with the well established prognostic meaning in chronic lymphocytic leukemia (CLL) are +12, del(11q), del(13q), and del(17p). Less common translocations lead to deregulation of genes primarily due to juxtaposition with IGH gene. We present a case of CLL patient with atypical morphology and an aggressive course of disease. In spite of aggressive treatment including allogeneic hematopoietic stem cell transplantation disease progressed into a rare cutaneous Richter's syndrome. Trisomy 12 was found as a sole chromosomal change at initial cytogenetic analysis of lymphoma cells. At progression, besides trisomy 12 three concomitant balanced translocations t(2;14)(p13;q32), t(14;19)(q32;q13), and t(18;22)(q21;q11) were found. The same karyotype was confirmed in cells aspirated from skin infiltrates at Richter transformation. Atypical cytological features, trisomy 12, and a progressive course of disease observed in our case are typical for CLL with each of particular Ig translocations that were concomitantly found in CLL for the first time. Similar to "double hit" lymphoma concurrent rearrangements may be relevant also in CLL.
authors: Helena
authors: H
authors: Podgornik
authors: Jožef
authors: J
authors: Pretnar
authors: Barbara
authors: B
authors: Skopec
authors: Dušan
authors: D
authors: Andoljšek
authors: Peter
authors: P
authors: Černelč
mesh_terms: D000081242:B-Cell Lymphoma 3 Protein; D002352:Carrier Proteins / Q000235:genetics*; D002869:Chromosome Aberrations; D003582:Cytogenetics; D018450:Disease Progression; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000235:genetics*; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D000081242:B-Cell Lymphoma 3 Protein; C486563:BCL11A protein, human; C000631344:BCL3 protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; D019253:Proto-Oncogene Proteins c-bcl-2; D012097:Repressor Proteins; D014157:Transcription Factors
keywords: Atypical CLL; IGH translocation; t(14;19); t(18;22); t(2;14)