Avtor/Urednik     Podgornik, Helena; Pretnar, Jože; Skopec, Barbara; Andoljšek, Dušan; Černelč, Peter
Naslov     Concurrent rearrangements of BCL2, BCL3, and BCL11A genes in atypical chronic lymphocytic leukemia
Tip     članek
Vol. in št.     Letnik 19, št. 1
Leto izdaje     2014
Obseg     str. 45-48
ISSN     1024-5332 - Hematology (Amsterdam, Netherlands)
Jezik     eng
Abstrakt     The most frequent chromosomal aberrations with the well established prognosticmeaning 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 spiteof 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 observedin 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.
Proste vsebinske oznake     atypical CLL
IGH translocation
t(2;14)
t(14;19)
t(18;22)