Bone marrow involvement in systemic lupus erythematosus.

Background: Besides peripheral cytopenias, bone marrow abnormalities, such as fibrosis, pure red cell aplasia and aplastic anemia have been reported in patients with systemic lupus erythematosus (SLE), suggesting that bone marrow may be a 25 target organ in SLE.

Aim: Our objective was to describe this bone marrow involvement.

Methods: This registry is a nationwide retrospective study.

Blood parameters of preterm neonates: postnatal evolution according to gestational age.

Introduction: The blood count provides qualitative and quantitative essential information on bloodlines. Reference hematologic parameters have been established in children and neonates, but few data are available regarding the premature population during the first month of life. The main objective of this study was to establish normative values for blood parameters for premature infants born between 26 and <37 weeks of gestation, during the first month of life, taking into account gestational and postnatal age and treatments that can impact the threshold values.

[Paraneoplastic limbic encephalitis: 2 pediatric cases].

The term "paraneoplastic neurologic disorders" refers to a group of syndromes mediated by immune responses triggered by tumors that express neuronal proteins or by immunological disturbances caused by the tumor. In most cases, limbic encephalitis is a disorder of adulthood, particularly in association with small-cell lung cancer or a testicular germ-cell tumor. The clinical picture of this disorder includes anxiety, depression, confusion, delirium, hallucinations, short-term memory loss and sometimes seizures.

Congenital acute leukemia with initial indolent presentation--a case report.

Background: Congenital acute leukemia is a rare event, presenting usually as an aggressive disease with a poor prognosis. A differential diagnosis is the transient myeloproliferative disorder observed in Down syndrome. We describe the case of an apparently healthy newborn male child presenting with normal peripheral blood (PB) counts but with a blast population on differentials.

Expression and prognostic significance of Bcl-2 family proteins in myelodysplastic syndromes.

Excessive apoptosis is implicated in the pathogenesis of myelodysplastic syndromes (MDS). We assessed by flow cytometry the expression of several members of the Bcl-2 family in bone marrow mononuclear cells (BMMNC) of 168 MDS samples at diagnosis. The proteins studied were Bcl-2, Bcl-xL (anti-apoptotic), Bax, Bad, Bak, and Bcl-xS (pro-apoptotic).

Expression and activity of caspases 1 and 3 in myelodysplastic syndromes.

Myelodysplastic syndromes (MDS) are characterized by abnormal growth of committed progenitors in clonogenic assay, with reduced number of colonies and decreased colony/cluster ratio. It has been suggested that excessive apoptosis is the cause of marrow failure in MDS. We studied the expression of caspase-1 (interleukin-1beta-converting enzyme, ICE) and caspase-3 (CPP32/apopain) in marrow mononuclear cells, and the growth pattern of committed progenitors in a series of 83 MDS cases.

Expression of apoptosis-controlling proteins in acute leukemia cells.

The expression of Bcl-2 family proteins (Bcl-2, Bcl-X, Bcl-XL, Bcl-Xs, BAX, BAD, MCL-1) and of Interleukin-1 converting enzyme (ICE)-related proteins (ICE, CPP32, ICH- 1) was analyzed in acute leukemia cells by flow cytometry. Most proteins studied were detectable in cell lines such as KG1a, HL60, K562 (myeloblastic), REH, RAJI and MOLT4 (lymphoblastic) and VAL (B-cell lymphoma). However, BCL-Xs and BAK were weakly expressed in K562, as were Bcl-X, BAD and BAK in the VAL line.

High expression of bcl-2 protein in acute myeloid leukemia cells is associated with poor response to chemotherapy.

The BCL-2 proto-oncogene encodes a mitochondrial protein that blocks programmed cell death. High amounts of bcl-2 protein are found not only in lymphoid malignancies, but also in normal tissues characterized by apoptotic cell death, including bone marrow. Using a monoclonal antibody to bcl-2 protein, we analyzed 82 samples of newly diagnosed acute myeloid leukemia.

Trisomy 12 in B-cell chronic lymphocytic leukemia: interphase study by in situ hybridization in 75 patients.

Trisomy 12 is the most common cytogenetic abnormality in chronic lymphocytic leukaemia (CLL) and may be a prognostic indicator. In the present study, fluorescence in situ hybridization (FISH) is shown to be a method of choice for detection of trisomy 12 in interphase cells. Seventy-five cases of B-cell CLL were analysed with a chromosome 12 specific alpha satellite DNA probe and results compared with those from cytogenetic analysis.

t(2;18) and t(18;22) variant chromosomal translocations in B cell malignancies.

Variant translocations (2;18 and 18;22) are described in this review. The chromosomal and molecular findings of these translocation of BCL2 and their effect on possible BCL2 gene activation is discussed. Unanswered questions still remain and these include why this is so rare compared to the 25% incidence recorded for translocations in Burkitt's lymphoma.

Chromosome studies in stimulated lymphocytes of 50 patients with B-cell chronic lymphocytic leukemia.

The chromosome constitutions of stimulated lymphocytes from 50 B-cell chronic lymphocytic leukemia patients were studied using different stimulation systems, i.e., TPA alone or associated with different cytokines.

A case of myelodysplastic syndrome with abnormal megakaryocytes and ins(8;3)(q24;q21q26).

We report a 56-year-old male patient with refractory anemia with excess of blasts in transformation (RAEB-T) who had an ins(8;3)(q24;q21q26) as the sole chromosome abnormality in bone marrow (BM) cells. The findings of disturbed thrombocytopoiesis with numerous micromegakaryocytes suggest that it could be a variant of the classic ins(3;3)(q26;q21q26) described in hematologic malignancies with abnormal thrombopoiesis.

A complex t(3;8;17) involving breakpoint 8p11 in a case of M5 acute nonlymphocytic leukemia with erythrophagocytosis.

The t(8;16)(p11;p13) is a recently described new chromosome rearrangement of acute nonlymphocytic leukemia (ANLL). It appears to be specifically associated with acute monoblastic (AML-M5) or unusual myelomonocytic leukemia with prominent erythrophagocytosis in the leukemic cells. A complex t(3;8;17)(q27;p11;q12) is reported in a case of acute monoblastic leukemia with erythrophagocytosis.

Molecular diagnosis of chronic myeloid leukemia using a 3'bcr probe.

Chronic myeloid leukemia (CML) is characterized by the Philadelphia chromosome which results from a reciprocal (9; 22) translocation, with the protooncogene c-abl moving from chromosome 9 to 22 and juxtaposed to the proximal bcr. Breakpoints on chromosome 22 are localized within 5.8 kb of the breakpoint cluster region (bcr).

[The contribution of cytogenetics to the evaluation of residual disease in malignant hemopathies].

Autologous bone marrow transplantation is now a major tool in the treatment of human leukemias and lymphomas. Evaluation of residual disease by standard cytological methods is difficult. Cytogenetics provide clonal markers which are specific features of leukemic cells.

Prognostic factors in angioimmunoblastic lymphadenopathy.

In order to identify prognostic factors in angioimmunoblastic lymphadenopathy (AIL), 30 directly diagnosed patients were prospectively followed for more than 42 months. Age and sex distribution, clinical and laboratory findings and evolution were not different from previously reported series. Median duration of survival was 24 months.

Persistence of t(4;11) in cytologically normal bone marrow treated ex vivo with Asta-Z.

The chromosomal anomaly t(4;11) is closely related to a specific type of acute leukemia: occurrence in young children, hyperleukocytosis with a particular immunologic phenotype, and poor response to therapy. Allogeneic bone marrow (BM) transplantation has been done in a few cases. We report a case in which a complete remission was obtained after intensive therapy.

[Skin manifestations of refractory anemia with excess of blasts (RAEB)].

The authors describe three cases of refractory anaemia with an excess of myeloblasts in the bone marrow (RAEM), associated with pyoderma gangrenosum (PG) and vasculitis. The first patient was an 85-year old man whose RAEM had begun in 1979. In 1985, he developed pyoderma gangrenosum in the popliteal fossa and on the right heel.

Variant translocation in Burkitt's lymphoma: 8;22 translocation in a French patient with an Epstein-Barr virus-associated tumor.

A variant translocation t(8;22)(q23;q11) has been found in tumor cells from a 19-year-old white man with an Epstein-Barr virus-associated Burkitt's lymphoma (BL). The tumor, which appeared 2 years after the patient had infectious mononucleosis, bore histopathological features characteristic of BL, although only the lymph nodes in the cervical region were involved. This case and some other recent cytogenetic observations of nonendemic BL emphasize the importance of chromosome #8 rearrangement in this B-cell-type lymphoma.