A 23-year-old woman with 11q-chronic lymphocytic leukemia

Abstract

Chronic lymphocytic leukemia (CLL) is characterized by accumulation of monoclonal CD5? B lymphocytes in blood, bone marrow and lymphoid tissues. The incidence of CLL is about five cases per 100,000 people per year, increasing with age. In most series, CLL is more frequent in males than in females [1]. In a recent report from the Hospital Clinic of Barcelona, Abrisqueta et al. [2] described the findings of 929 patients, with a median age at diagnosis of 67, with a range of 24–97 years. Only 13.3% were under the age of 50; the youngest patient was 24 years old. In another investigation, Mauro et al. [3] reported the age distribution of 1,011 patients with CLL. Among the patients studied, 11% were B50 years of age and 1.5% was less than 40 years. In this distribution, the youngest one was 31 years old. Gribben et al. [4] described 162 patients with poor prognosis CLL who have undergone hematopoietic stem cell transplantation. The median age was 49 with a range of 19–66 years [4]. Lugassy et al. [5] reported six cases under the age of 30 years. We studied 426 patients with CLL in the Laboratory of Flow Cytometry from the University Hospital of Medical School at Ribeirao Preto. The median age at diagnosis was 66.3 (range 23–91), only 10.6% were under the age of 50 years; 2.6% was B40 years and only 0.7% B30 years. Therefore, CLL is a rare disease in young patients. We describe a case of a 23-year-old woman with CLL diagnosed in May 2008 who referred cervical, axilar and inguinal lymphadenopathy since 2005 when she was 20 years old. At time of the diagnosis, she complained diarrhea, vomiting and abdominal distension. Physical examination showed cervical, axilar and inguinal bilateral lymphadenopathy, hepatomegaly (6 cm below the right costal margin), but the spleen was not papable. Peripheral blood counts revealed hemoglobin 6.5 g/dl, platelets 78.000/mm, WBC 69 9 10/L with 77% of lymphoid cells. Immunophenotype studies showed CD19?, CD5?, FMC7-, CD79b-, CD23?, kappa chain of low intensity, CD38? (35%), CD10-, TdT-, ZAP70?(33%) (Matutes score 5). Cyclin D1 was negative as determined by RT-PCR analysis. Metaphase induction was performed by using 10 peripheral blood mononuclear cells that were cultured in RPMI 1640 medium (Invitrogen, Gaithersburg, MD) with 20% fetal calf serum in the presence of the immunostimulatory CpG-oligonucleotide DSP30 (TIBMolBiol, Berlin, Germany) and interleukin 2 (IL-2). After 72 h, colcemid (Sigma, Munich, Germany) was added before chromosome preparation. Peripheral blood mononuclear cells for FISH analysis were not submitted to any stimuli. Chromosome preparations were obtained by using standard procedures and the subsequent cytogenetic analysis and interpretation were made according to ISCN 2005 [6]. G-banding analysis showed 11q deletion in all 20 analyzed cells, 46,XX,del(11)(q23)[20] (Fig. 1a). C. E. Miguel Division of Hematology, Base Hospital of Sao Jose do Rio Preto, Sao Paulo, Brazil