A Bizarre Progression Of Chronic Lymphocytic Leukaemia Into Diffuse Large B-Cell Lymphoma.

A 65-year-old male presented with complaints of weakness, lethargy, abdominal pain, and low-grade fever for the last few months. His examination revealed generalized lymphadenopathy and splenomegaly. A subsequent laboratory workup revealed atypical lymphoid cells with prominent double-bright positivity of CD19 and CD5 markers. Further investigations revealed deletion of the ATM (11q22.3) gene, and by other diagnostic factors, the patient was diagnosed with B-cell chronic lymphocytic leukaemia. Thus, treatment was initiated with oral chemotherapy followed by rituximab-bendamustine. After three weeks, he presented to the emergency room with a fever and worsening abdominal pain. On examination, massive splenomegaly was found. After stabilization, a bone marrow biopsy revealed findings which, in light of the clinical symptoms, were consistent with Richter's transformation of B-Cell chronic lymphocytic leukaemia into Diffuse large B-Cell Lymphoma.

Role of cytogenetic abnormalities detected by fluorescence in situ hybridization as a prognostic marker: Pathogenesis & clinical course in patients with B-chronic lymphocytic leukaemia.

BACKGROUND & OBJECTIVES: B-cell chronic lymphocytic leukaemia (B-CLL) is one of the most common forms of adult leukaemia, with a highly variable clinical course. Specific chromosomal and genetic aberrations are used clinically to predict prognosis, independent from conventional clinical markers. Molecular cytogenetic methods such as fluorescence in situ hybridization (FISH) detect aberrations in up to 80 per cent B-CLL patients. This study was conducted to score the frequencies of recurrent aberrations, i.e., del(13q14), trisomy 12, del(11q22), del(17p13), del(6q21) and IgH (immunoglobulin heavy chain) translocations and to understand their role in prognostication and risk stratification. METHODS: FISH studies were performed on bone marrow aspirate or peripheral blood of 280 patients using commercially available disease-specific probe set. The data were correlated with clinical and haematological parameters such as low haemoglobin, splenomegaly and lymphadenopathy. RESULTS: Chromosomal aberrations were detected in 79 per cent of patients, with del(13q14) (57%) as the most common cytogenetic aberration, followed by trisomy 12 (27%), del(11q22) (22%), t(14q32) (19%), del(17p13) (18%) and del(6q21) (9%). Single or in coexistence with other aberration del(13q14) had a favourable outcome in comparison to del(11q22), t(14q32), del(17p13) and del(6q21) which were associated with advanced stages of the disease. Trisomy 12 had a variable clinical course. INTERPRETATION & CONCLUSIONS: FISH was found to be a sensitive and efficient technique in detecting the prevalence of recurrent cytogenetic abnormalities. Each of these aberrations is an important independent predictor of disease progression and survival which aids in designing risk-adapted treatment strategies for better disease management.

Fluorescence lifetime imaging of DAPI-stained nuclei as a novel diagnostic tool for the detection and classification of B-cell chronic lymphocytic leukemia.

B-cell chronic lymphocytic leukaemia (B-CLL) and B-cell precursor acute lymphoblastic leukaemia (B-ALL) are the most common type of leukaemia in adults and children, respectively. Today, fluorescence in situ hybridization (FISH) is the standard for detecting chromosomal aberrations that reflect adverse and favorable outcome. This study revealed a new, simple, and fast diagnostic tool to detect pathological cells by measuring and imaging the fluorescence lifetime (FLT) using FLT imaging microscopy (FLIM) of the peripheral blood (PB) cells of B-CLL samples that were labeled with the DNA binder, DAPI. The FLT of DAPI in healthy individuals was found to be 2.66 ± 0.12 ns. In contrast, PB cells of B-CLL and BM cells of B-ALL patients were characterized by a specific group distribution of the FLT values. The FLT of DAPI was divided into four subgroups, relative to 2.66 ns: short+, normal, prolonged, and prolonged+. These alterations could be related to different chromatin arrangements of B-CLL and B-ALL interphase nuclei. Notably, extremely long FLT of nuclear DAPI correlate with the presence of extra chromosome 12, while moderate increases compared to normal characterize the deletion of p53. Such correlations potentially enable a FLT-based rapid automatic diagnosis and classification of B-CLL even when the frequency of genetic and chromosomal abnormalities is low. © 2016 International Society for Advancement of Cytometry.

Leucemia cutis: expressión clínica de recaída de leucemia linfocítica crônica / Leukaemia cutis: clinical manifestation of chronic lymphocytic leukaemia relapse

Presentamos un paciente varón de 71 años con lesión tumoral en piel y antecedente de LLC. Los estudios histopatológicos y de inmunohistoquímica confirman el diagnóstico de Leucemia Cutis. Se realiza tratamiento con Clorambucilo y corticoides vía oral, remitiendo su enfermedad hematológica y cutánea. Actualmente luego de ocho meses del diagnóstico de LC, el paciente se encuentra libre de enfermedad.

We present a 71 year old male patient with previous records of Chronic Lymphocytic Leukaemia who presented with a tumoral skin lesion. Histological and immunohistochemical studies confirmed the Leukaemia Cutis diagnosis. The patient underwent treatment with clorambucile and systemic steroids with remision of both haemathological and skin manifestation. The patient is still under close clinical follow up and remission continues eight months so far.

An Analysis of Circulating CD4 Lymphocyte Subpopulations in B-Cell Chronic Lymphocytic Leukaemia.

The distribution of circulating CD4 lymphocyte subpopulations determined by reactivity with monoclonal antibodies anti-2H4 (CD45RA), anti-UCHL1 (CD45RO), anti-4B4 (CD29) and anti-Leu8, and analysed by dual colour immunofluorescence flow cytometry is described in a series of patients with B-CLL and in age-matched control subjects. The percentages and absolute numbers of CD4 cells reactive with anti-CD45RA, anti-CD45RO and anti-CD29 reagents were similar in the patient and control groups. In contrast, CD4+ Leu8+ cells (percentages and absolute numbers) were significantly reduced in B-CLL patients resulting in an inversion of the normal CD4+ Leu8+ :CD4+Leu8- ratio. The patients' clinical or therapeutic status did not appear to influence the levels of the respective CD4 subpopulations; nor was evidence of hypogammaglobulinaemia associated with specific numerical alterations in any of the CD4 subpopulations studied. It is proposed that, in B-CLL, the alterations in the CD4Leu8 subpopulations are associated with the disease process, whereas the distributions of CD4+CD45RA+, CD4+ CD45RO+ and CD4+ CD29+ cells reflect the normal physiological levels of these subpopulations in elderly subjects.