-

+ Chronic lymphocytic leukaemia/Small lymphocytic lymphoma (CLL/SLL) diagnosed 19 months earlier, in first relapse after 4 cycles of RFC (Fludarabine, cyclophosphamide and Rituximab)

-

A 62-years-old male was previously asymptomatic until July 2008, when he felt an enlarged lymph node in his neck. A biopsy was compatible with small lymphocytic lymphoma (CD20, CD5, CD23 and Bcl-2 positive and Ki-67 less than 10% of cells). Peripheral blood showed normal hemoglobin level and platelet count, 8.1 x 10⁹/l leukocytes and 1.4 x 10⁹/l lymphocytes with normal morphology. Bone marrow infiltration was confirmed by aspirate and trephine biopsy. Immunophenotyping study showed 27% of CD19+ positive cells with co expression of CD5++, CD23++, cIgD+, cIgM++, and cLambda++. Bone marrow karyotype was normal. The patient was diagnosed as Small lymphocytic lymphoma stage IVA. Because of symptomatic lymphoadenopathy, chemotherapy with FCR (Fludarabine, cyclophosphamide and Rituximab) was started. After 4 cycles, he achieved partial response with decrease in lymph nodes sizes until March, 2010, when diffuse lymphadenopathy was noted.

64 yrs

M

-

-

+ diffuse lymphadenopathy

-

1.5

10.3

52

Aspirate and immunophenotype study: 69.8% lymphoid cells, CD19+, CD5++, CD11c+, CD23++, cyIgM+, cylambda+.

Small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL)

not done

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.

not done

Chronic lymphocytic leukaemia/Small lymphocytic lymphoma (CLL/SLL) with high Ki-67 index.

03-2010

Bendamustine +Rituximab (2 cycles)

-

+

D

07-2010

4

bone marrow cells

72 hours with TPA (o-tetradecanoyl phorbol-13-acetate)

G

(using ISCN): 44,XY, t(1;6)(p35;p25), der(4)(q21), -9, add(17)(p13), -21, +mar[6]/46,XY[14]

not done

Fish using deletion probe XLP53 (MetaSystems) confirms 17p13/P53 locus deletion nuc ish(D17Z1x2,p53x1)[76/100]

not done

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.