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(Paper co-edited with the European LeukemiaNet)
Chronic lymphocytic leukaemia/Small lymphocytic lymphoma (CLL/SLL) associated with translocation t(1;6)(p35;p25) as part of complex karyotype
Written2010-08Elvira D Rodrigues Pereira Velloso, Daniela Borri, Cristina Alonso Ratis, Guilherme Fleury Perin, Nelson Hamerschlak, Nydia S Bacal, Paulo A A Silveira, Alanna M P S Bezerra, Denise C Pasqualin
Clinical Laboratory of Hospital Israelita Albert Einstein, Sao Paulo, Brazil (EDRPV, DB, CAR, NSB, PAAS); Pathology Department of Hospital Israelita Albert Einstein, Sao Paulo, Brazil (AMPSB, DCP); Hematology Department of Hospital Israelita Albert Einstein, Sao Paulo, Brazil (GFP, NH)
Age and sex : 64 year(s) old male patient.
Previous History : no preleukemia
Chronic lymphocytic leukaemia/Small lymphocytic lymphoma (CLL/SLL) diagnosed 19 months earlier, in first relapse after 4 cycles of RFC (Fludarabine, cyclophosphamide and Rituximab)
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; enlarged lymph nodes (diffuse lymphadenopathy); no central nervous system involvement
WBC : 1.5 x 109/L ; Hb : 10.3 g/dL ; platelets : 52 x 109/L;
Bone marrow : Aspirate and immunophenotype study: 69.8% lymphoid cells, CD19+, CD5++, CD11c+, CD23++, cyIgM+, cylambda+.
Cyto pathology classification
Immunophenotype : Small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL)
Rearranged Ig Tcr : not done
Pathology : Lymph node biopsy showed SLL/CLL, CD20, CD23, CD5, CD43 and BCL2 positive; CD10 and Cyclin D1 negative and Ki-67 positive in 25% of neoplastic cells.
Electron microscopy : not done
Precise diagnosis : Chronic lymphocytic leukaemia/Small lymphocytic lymphoma (CLL/SLL) with high Ki-67 index.
Date of diagnosis: 03-2010
Treatment : Bendamustine +Rituximab (2 cycles)
Complete remission : None
Treatment related death : +
Status : Dead 07-2010
Survival : 4 month(s)
Sample : bone marrow cells ; culture time : 72 h, ours with TPA (o-tetradecanoyl phorbol-13-acetate) ; banding : G
Results : (using ISCN): 44,XY, t(1;6)(p35;p25), der(4)(q21), -9, add(17)(p13), -21, +mar[6]/46,XY[14]
Karyotype at relapse : not done
Other molecular cytogenetics technics : Fish using deletion probe XLP53 (MetaSystems) confirms 17p13/P53 locus deletion nuc ish(D17Z1x2,p53x1)[76/100]
Other molecular studies
technics : not done
Partial karyotypes, G- bands, showing the t(1;6)(p35;q21), del(4)(q21), and add(17)(p13).
Fish interphase study using probes D17Z1 (green) and p53 (orange) showing 2 green signals and 1 orange signal, confirming p53 deletion.
Ki-67 immunostaining in lymph node at time of t(1;6) detection.
Until now, 16 patients with CLL and t(1;6)(p35;p25) were described. 8 of these patients were described by Michaux et al in 2005, showing that this rearrangement was associated with bad prognosis: unmutated B-CLL and evolution to diffuse large B-cell Lymphoma (DLBCL). Our group also described in 2007 a case of atypical CLL with evolution to aggressive B-cell Lymphoma. In the case reported herein, clinical and pathological evolution was associated with the detection of t(1;6) as part of complex karyotype including deletion of p53. Although no transformation to DLBCL was seen, increase in proliferation rate in lymph node biopsy (Ki-67 increase from less than10 to 25%) was detected, associated with bad prognosis and short survival.
Internal links
Atlas Cardt(1;6)(p35;p25)
Case ReportTranslocation t(1;6)(p35;p25) in B-cell lymphoproliferative disorder with evolution to Diffuse Large B-cell Lymphoma
Translocation t(1;6)(p35.3;p25.2): a new recurrent aberration in "unmutated" B-CLL.
Michaux L, Wlodarska I, Rack K, Stul M, Criel A, Maerevoet M, Marichal S, Demuynck H, Mineur P, Kargar Samani K, Van Hoof A, Ferrant A, Marynen P, Hagemeijer A.
Leukemia. 2005 Jan;19(1):77-82.
PMID 15510210
Translocation t(1;6)(p35;p25) in B-cell lymphoproliferative disorder with evolution to Diffuse Large B-cell Lymphoma.
Rodrigues Pereira Velloso ED, Ratis C, Brasil SAB, Guerra JC, Bacal N, Pitangueira CPMLM.
Atlas Genet Cytogenet Oncol Haematol. July 2007. URL :
Chromosomal translocations independently predict treatment failure, treatment-free survival and overall survival in B-cell chronic lymphocytic leukemia patients treated with cladribine.
Van Den Neste E, Robin V, Francart J, Hagemeijer A, Stul M, Vandenberghe P, Delannoy A, Sonet A, Deneys V, Costantini S, Ferrant A, Robert A, Michaux L.
Leukemia. 2007 Aug;21(8):1715-22. Epub 2007 May 31.
PMID 17541398

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