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A balanced translocation t(8;9) (p11;q34) was present in the peripheral blood, bone marrow, and spleen cells of a patient with Ph negative chronic myeloid leukaemia. Subsequent transformation into acute leukaemia was associated with the emergence of trisomy 8 and der(8)(8qter----cen----8p11::9q34----9qter). This is the third reported case of t(8;9) (p11;q34) and raises the question of the role of c-abl in the pathogenesis of this myeloproliferative disorder. [ABSTRACT FROM PUBLISHER]

A 63 year old man with late onset hypogammaglobulinaemia is described. Splenectomy, carried out because of marked splenomegaly and pancytopenia, demonstrated marked T lymphocytic infiltration in the splenic red pulp with prominent germinal centres. A persistent peripheral blood and bone marrow lymphocytosis ensued (10×109/1 and 40% respectively) and this was consistent with T-chronic lymphocytic leukaemia (T-CLL). Over 88% of his blood lymphocytes were E +, OKT3 + ,OKT8 + and OKT11 +; 54% of the T lymphocytes had receptors for IgG (Tγ cells). Functional studies showed that the T lymphocytes of this patient lacked killer and natural killer cell function but they effectively suppressed the differentiation of normal B cells in a PWM stimulated system. It is suggested that the T-CLL in this patient resulted from the proliferation of the T suppressor subset which was responsible for his hypogammaglobulinaemia. [ABSTRACT FROM AUTHOR]

A patient with CD3, CD8 positive lymphocytosis presented with features consistent with T cell chronic lymphocytic leukaemia/proliferations of large granular lymphocytes. The marrow and blood lymphoid populations (19.4 x 10(9)/l) contained more than 80% CD3 and CD8 positive cells with no evidence of a monotypic B cell population. A biopsy specimen of a vasculitic rash showed a diffuse infiltrate of CD3, CD8 positive cells into the upper dermis, consistent with T cell lymphocytic disease. After follow up for two years without treatment the blood lymphocyte count was 53 x 10(9)/l and was composed of cytologically small lymphocytes. A monoclonal SIg M D k lymphoid population (more than 90%) was demonstrable in sample blood and marrow aspirate. Gene rearrangement studies carried out on DNA extracted from peripheral blood lymphocytes at presentation and at two year follow up exhibited JH and Ck immunoglobulin gene rearrangement but no rearrangement of T cell receptor TcR gamma and beta genes. It is thought that this is the first well documented case of an aggressive CD8 positive lymphocytosis preceding, or in response to, an underlying B cell neoplasm. [ABSTRACT FROM PUBLISHER]

The alkaline phosphatase-antialkaline phosphatase (APAAP) immunocytochemical staining technique was used to look for circulating cells of megakaryocyte lineage in peripheral blood smears from 67 cases of myelodysplasia. Small numbers of micromegakaryocytes positive for platelet glycoprotein IIIa were found in 23 cases. These cells superficially resemble small lymphoid cells and are hence difficult or impossible to recognise in conventional Romanowsky stained smears. Circulating micromegakaryocytes were found most commonly in more aggressive types of myelodysplasia (such as refractory anaemia with excess blasts (RAEB) and refractory anaemia with excess blasts in transformation (RAEB-t], and their presence may therefore indicate a poor prognosis. Because of the simplicity of this immunocytochemical labelling technique, it could be of wide use in the initial assessment of patients with myelodysplasia, and possibly for the early detection of acute leukaemic transformation. [ABSTRACT FROM PUBLISHER]

The prevalence of autoantibodies in B cell chronic lymphocytic leukaemia (B-CLL) was investigated. A lower prevalence of autoimmune haemolytic anaemia than that found in other series was found: large numbers of non-progressive stage A disease cases were included, in which the prevalence of autoimmune haemolytic anaemia is low. Non-haematological autoantibodies were no commoner than in age matched controls. Whatever explanation is offered for autoimmune phenomena in B-CLL it must take account of the fact that those phenomena are virtually confined to autoantibodies against the formed elements of the blood. [ABSTRACT FROM PUBLISHER]

The molecular mechanisms underlying the development and evolution of myelodysplastic syndrome (MDS) are largely unknown. The increasing number of blast cells in the bone marrow correlate with poor prognosis and risk of developing acute leukemia. Such progression is frequently associated with increasing chromosomal abnormalities and genetic mutations. A cohort of 75 MDS patients were investigated for RAS, FMS and p53 mutations, and these molecular findings were related to cytogenetics, clinical status, transformation to acute leukemia, prognostic scores and survival. A mutation incidence of 57% (43/75) was found, with 48% (36/75) RAS mutations, 12% (9/75) FMS mutations and 8% (4/50) p53 mutations. The mutation status for RAS and FMS was related to MDS subgroup, increasing with poor-risk disease. The highest incidence was in the chronic myelomonocytic leukemia (CMML) subgroup. The most frequent RAS mutations were of codon 12 and a predominance of FMS codon 969 mutations was observed. A statistically significant increased frequency of transformation to AML was observed in MDS patients harboring RAS or FMS mutations (P < 0.02). Patients with oncogene mutations had a significantly poorer survival compared with those without mutations at 2 years and at the end of the period of follow-up (P < 0.02). Multivariate analysis including mutation, age, gender, diagnosis (FAB), cytogenetics and International score shows that the International score and mutation and age is the best predictive model of a poor outcome, (P < 0.0001). When the analysis was undertaken without the International score, mutation and gender was the best predictor of poor survival (P = 0.005). This study shows that oncogene mutation, indicative of genetic instability, is associated with disease progression and poor survival in MDS. [ABSTRACT FROM AUTHOR]

The article presents the study on the important role of the immunoglobulin light chain (IG LC) in splenic marginal-zone lymphoma (SMZL) ontogeny. It explores the IG LC gene repertoire in 107 SMZL cases to gain insight into the role of IG LCs in SMZL. The results of the study support the argument that antigen selection could be implicated in SMZL immunopathogenesis.

A letter to the editor on trisomies of chromosomes in chronic lymphocytic leukemia, is presented.

A letter to the editor is presented about a subset of Binet stage A chronic lymphocytic leukemia patients with TP53 abnormalities and mutative IGHV genes.

The t(2;14)(p13;q32.3) involving the BCL11A and IGH genes is a rare but recurrent chromosomal aberration in B-cell malignancies. Hitherto, juxtaposition of BCL11A and IGH has only been described in B-cell chronic lymphocytic leukemia (B-CLL) and immunocytoma. As subgroups of B-CLL can be distinguished by the pattern of somatic mutation of immunoglobulin variable (V) genes we investigated four lymphomas with IGH/BCL11A involvement for IGH hypermutation. Clonal V[SUPH] gene rearrangements were amplified; in all four cases, sequencing of the amplificates revealed the rearranged V[SUPH] genes to lack somatic mutations. These results suggest that t(2;14)(p13;q32.3) is associated with a subset of B-CLL/immunocytoma characterized by non-mutated IG genes deriving from pre-germinal center B cells. As the translocations in both informative cases are targeted to the switch regions of the IGG2 gene, which is mainly used in T cell-independent immune responses, these translocations presumably occurred in activated B cells in the course of T cell-independent immune responses outside the germinal center. [ABSTRACT FROM AUTHOR]

The article discusses some of the recent advances in the diagnosis, pathogenesis and management of chronic lymphocytic leukemia (CLL). The combination of peripheral blood lymphocyte morphology and immunophenotyping remains the cornerstone of CLL diagnosis. The standard indications for treatment are progressive stage A, stage B or stage C disease and cytopenias due to autoimmune disease.

A 66-year-old patient with polyarteritis nodosa presented with thrombocytosis and was found to have circulating immune complexes. Treatment by plasma exchange produced symptomatic improvement and lowered both the platelet count and the level of immune complexes. While plasma exchange is a useful technique in investigating the pathogenesis of the disease, predisolone is a more convenient way of treating it. [ABSTRACT FROM AUTHOR]

A patient with Klinefelter's syndrome and diabetes mellitus was diagnosed as having myelodysplasia. Cytogenetic analysis of the peripheral blood and the bone marrow cells confirmed the presence of a constitutional 47,XXY chromosome complement. In addition, complex karyotypic abnormalities were present. [ABSTRACT FROM PUBLISHER]