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V Eclache

Publications and source records attributed to V Eclache.

At least 19 recordsLinked to original sources
PubMed2005

[Systemic mastocytosis].

Systemic mastocytosis is characterized by abnormal mast cell proliferation in different organs. The 2001 consensus classification distinguishes in separate categories indolent systemic mastocytosis, systemic mastocytosis with concomitant blood disease, aggressive systemic mastocytosis and mast cell leukemia. Clinical manifestations are caused by tissue infiltration by proliferating mastocytes and by release of mediators. The principal organs affected are the skin, bones, digestive tract, liver, spleen and lymph nodes. Diagnosis of mastocytosis is based on appropriate stains (Giemsa, toluidine blue) and immunophenotype features (tryptase, CD117, also known as c-KIT and stem cell factor receptor). Serum tryptase levels reflect the total mast cell burden. Treatment must prevent release of mast cell mediators (histamine antagonists, cromolyn sodium, corticosteroids, or leukotriene-receptor inhibitors), limit bone involvement (bisphosphonates) and reduce the number of circulating mast cells (interferon, cladribine, or tyrosine kinase inhibitors). Enhanced understanding of the pathogenic mechanisms (mutation of c-kit and platelet-derived growth factor receptor alpha has led to the development of targeted treatments, including new inhibitors of tyrosine kinase and of nuclear factor Kappa B.

Benzamides↗
PubMed2004

[Acquired C1 inhibitor deficiency associated with lymphoproliferative disorders: four cases].

INTRODUCTION: Acquired C1 inhibitor deficiency is sometimes associated with lymphoproliferative disorders. EXEGESIS: We report four cases of acquired C1 inhibitor deficiency in association with lymphoproliferative disorders. Three of them were asymptomatic; one was associated with abdominal pain. Four women (median age, 66 years) presented either two non-Hodgkin lymphoma or two chronic lymphocytic leukaemia. C1 inhibitor deficiency was detected fortuitous (n = 1) or during investigation of arthralgia (n = 2), or Gougerot-Sjogren syndrome (n = 1). The deficit was acquired in all cases type I. Auto-immune disorders were associated with: Gougerot-Sjogren syndrome (n = 1), cryoglobulinemia (n = 2), IgM lambda monoclonal gammopathy (n = 1), Coombs positive test (n = 2), IgG anti-cardiolipine antibodies (n = 1). C1 inhibitor deficiency was not modified after lymphoproliferative disorders treatment (radiotherapy, splenic ablation) in two cases but patients were not in complete remission. C1 inhibitor raised normal level in one case, after five chemotherapy regimens, but decreased complement level and C4 split persist. CONCLUSION: Acquired C1 inhibitor deficiency associated with lymphoproliferative disorders is sometimes asymptomatic. Diagnosis could be delay in spite of clinical manifestations. Deficit correction is not constant after lymphoproliferative disorders treatment.

Aged↗
PubMed2004

Report of 34 patients with clonal chromosomal abnormalities in Philadelphia-negative cells during imatinib treatment of Philadelphia-positive chronic myeloid leukemia.

Imatinib mesylate (Gleevec), an inhibitor of the BCR-ABL tyrosine kinase, was introduced recently into the therapy of chronic myeloid leukemia (CML). Several cases of emergence of clonal chromosomal abnormalities after therapy with imatinib have been reported, but their incidence, etiology and prognosis remain to be clarified. We report here a large series of 34 CML patients treated with imatinib who developed Philadelphia (Ph)-negative clones. Among 1001 patients with Ph-positive CML treated with imatinib, 34 (3.4%) developed clonal chromosomal abnormalities in Ph-negative cells. Three patients were treated with imatinib up-front. The most common cytogenetic abnormalities were trisomy 8 and monosomy 7 in twelve and seven patients, respectively. In 15 patients, fluorescent in situ hybridization with specific probes was performed in materials archived before the initiation of imatinib. The Ph-negative clone was related to previous therapy in three patients, and represented a minor pre-existing clone that expanded after the eradication of Ph-positive cells with imatinib in two others. However, in 11 patients, the new clonal chromosomal abnormalities were not detected and imatinib may have had a direct effect. No myelodysplasia was found in our cohort. With a median follow-up of 24 months, one patient showed CML acceleration and two relapsed.

Adult↗
PubMed2003

New mechanisms of AML1 gene alteration in hematological malignancies.

The human AML1 gene (also named CBFA2 or RUNX1), located in the 21q22 chromosomal band, encodes for one of the two subunits forming a heterodimeric transcription factor, the human core binding factor (CBF). AML1 protein contains a highly evolutionary conserved domain of 128 amino acids called runt domain, responsible for both heterodimerization with the beta subunit of CBF and for DNA binding. AML1 is normally expressed in all hematopoietic lineages and acts to regulate the expression of various genes specific to hematopoiesis playing a pivotal role in myeloid differentiation. AML1 is one of the genes most frequently deregulated in leukemia through different mechanisms including translocation, mutation and amplification. Translocations lead to the formation of fusion genes encoding for chimerical proteins such as AML1-ETO which induces leukemogenesis. Recently, new mechanisms of AML1 deregulation by point mutations or amplification have been reported. To our knowledge, 51 patients (among 805 studied) with AML1 point mutations have been described. Forty of them have acute myeloid leukemia (AML) most often M0 AML. In this subtype of AML, the frequency of AML1 mutation is significantly higher; 21.5% of patients mutated (34/158). Mutations have also been found with lower frequency in other FAB subtype AML (6 cases), in myeloproliferative disorders (6 cases), in myelodysplastic syndrome (3 cases) and rarely in acute lymphoblastic leukemia (1 case). AML1 gene amplification has been found essentially in childhood ALL (12 cases) and more rarely in myeloid malignancies (4 cases). Here, we reviewed all these cases of AML1 point mutations and amplification and focused on the mechanisms of AML1 deregulation induced by these alterations.

Acute Disease↗
PubMed2001

[Rapid regression of prolonged pagophagia after treatment of iron deficiency].

BACKGROUND: Pica is an eating disorder characterized by the irrepressible and elective craving for food and non-food substances. Pagophagia is a particular form characterized by an ingestion of ice, often associated with iron deficiency. We report a case of intense and prolonged pagophagia. We also analyse literature about the nature of the link between pica and iron deficiency. CASE REPORT: A forty-two year old woman was admitted for severe anaemia secondary to iron deficiency possibly related to chronic gynaecological bleeding. A diet investigation revealed a pagophagia of about eighty ice cubes per day developing over five years. Iron supplement corrected the anaemia and the pagophagia disappeared in less than fifteen days without recurrence in the following year. CONCLUSION: The disappearance of pagophagia after the correction of iron deficiency supports the theory that pagophagia could well be a symptom of iron deficiency.

Adult↗
PubMed2001

[Perception of pica and its relationship with iron deficiency by hospital physicians in the Paris area].

OBJECTIVES: To ascertain the attitude of hospital physicians in the Paris area concerning pica and its relation to iron deficiency and to compare findings with data in the literature. METHODS: An anonymous questionnaire was sent to 174 department heads of specialty units caring for iron deficiency patients: internal medicine (n = 56), hepatogastroenterology (n = 39), hematology (n = 13), gynecology and obstetrics (n = 34), pediatrics (n = 32). RESULTS: The overall response rate was 40.2%. Ninety-seven percent of all the physicians found pica in less than 10% of patients with iron deficiency, and 95.6% considered geophagia as the most frequent pica. For 58.5% of the adult medicine practitioners, pica was regarded only as a cause of iron deficiency, but for 64.7% of the pediatricians, pica was both a cause and a symptom of iron deficiency was not sought in a systemic way in 88.6% of the physicians when a cause of iron deficiency was known. CONCLUSION: In the majority of the cases, the attitude of hospital physicians concerning pica is in disagreement with published data, suggesting either epidemiological characteristics specific to the Paris area, or unawareness of the phenomenon.

Adult↗
PubMed1997

PML/RAR alpha rearrangement in acute promyelocytic leukaemia with t(1;17) elucidated using fluorescence in situ hybridization.

Acute promyelocytic leukaemia (APL) is characterized by t(15;17)(q22;q21) which results in the formation of two chimaeric genes, PML/RAR alpha and RAR alpha/PML, thought to play a role in leukaemogenesis. We report a case of a patient with APL apparently lacking the t(15;17) but with t(1;17) translocation identified by fluorescence in situ hybridization (FISH). Chromosome 15 seemed intact but PML/RAR alpha fusion transcript was detected by molecular analysis. The patient achieved complete remission with all-trans retinoic acid treatment associated with chemotherapy. This case illustrates the usefulness of combined cytogenetics, FISH and molecular biology in cases with no evident t(15;17) to predict response to treatment.

Chromosomes, Human, Pair 1↗
PubMed1996

Complete nucleotide sequence of Ig V genes in three cases of Burkitt lymphoma associated with AIDS.

To investigate the role of polyclonal stimulation and antigen driven selection in the pathogenesis of acquired immunodeficiency syndrome (AIDS) related lymphomas, we studied the variable region nucleotide sequence of heavy (VH) and light (VL) chains expressed by 3 Burkitt lymphomas (BL) associated with HIV infection. Two cases expressed the VH3-30P1 gene with 88.6% and 86.7% homology when compared to their germinal counterpart, whereas the VH4-18 was rearranged in the third one (89% identity). All these genes displayed high numbers of mutations (27, 22, 28 respectively), predominating in CDR regions. The encoded light chain genes determined for cases 1 and 2 expressed the same V kappa I-018 gene. These results indicate that: 1) Although, it is difficult to address the issue of VH usage based on the limited number of cases studied, Burkitt's lymphoma associated with AIDS may use a restricted repertoire of Ig genes. 2) Mutations and/or replacements predominated in CDR regions, which might suggest the occurrence of an antigen driven selection process, at least in some AIDS associated lymphomas. However, the high ratio of mutations observed in framework (FW) regions also favors the possibility that the antigen selection process is associated with polyclonal B cell stimulation.

Acquired Immunodeficiency Syndrome↗
PubMed1994

D-dimer levels in the cerebrospinal fluid: a marker of central nervous system involvement in neoplastic disease.

D-dimer assay was performed on 145 cerebrospinal fluid (CSF) samples from patients with or without neoplastic diseases. Levels of D-dimers were significantly higher in carcinoma and lymphoid malignancies with clinical or biological evidence of central nervous system (CNS) involvement than in diseases without such complications. In one patient, serial determinations of D-dimers were well correlated with the appearance and disappearance of CNS involvement. Although this test is not specific for neoplastic affections, our data suggest that the measurement of D-dimers in CSF may be useful in the diagnosis of CNS involvement of neoplastic cells and in monitoring intrathecal therapy in patients with lymphoma, acute lymphoblastic leukaemia or carcinoma. In this study, the D-dimer assay was also positive in some non neoplastic diseases, but failed to differentiate subarachnoid haemorrhage from traumatic lumbar puncture.

Adult↗
PubMed1993

Plasma cell leukaemia mimicking acute monocytic leukaemia in the course of multiple myeloma.

We report a case of acute leukaemia occurring early in the course of IgA multiple myeloma. Ultrastructural studies, immunophenotyping and karyotyping were required to identify the origin and clonality of the leukaemic cells. Although ultrastructural examination of the blast cells revealed both monocytoid and plasma cell features, all cells expressed the CD 38 antigen and intracytoplasmic kappa light chains, while karyotyping revealed a clone with numerous abnormalities, leading to the diagnosis of clonal plasma cell disease. The occurrence of leukaemia in multiple myeloma is discussed.

Aged↗
PubMed1992

Questions concerning plasma cell leukaemia.

The classical concept of plasma cell leukaemia (PCL) is reviewed. This disease invariably concerns myeloma, either in its terminal phase (secondary PCL) or particularly rapid and aggressive (primary PCL). A more precise definition of primary PCL would be given by the term leukaemic myelomatosis. Characterization of the membrane antigen CD 56, responsible for the cytoadhesion of malignant plasmocytes in the bone marrow, today offers a convincing pathogenic hypothesis to elucidate this affection which would now appear to be no more than a variant form of myeloma. Acute immunoblastic-plasmoblastic leukaemia and mature cell leukaemic lymphoma would seem to be pathologically related to PCL. Finally, the problems posed by the "enigmatic" plasmacytoid monocyte are discussed.

Antigens, CD↗
PubMed1992

Juvenile chronic myelocytic leukemia with unusual cytogenetic clonal evolution.

Cytogenetic studies are reported in a case of juvenile chronic myelocytic leukemia with dysmyelopoiesis and skin involvement. The clonal evolution of a 6q-anomaly is described. Hematological and cytogenetic findings suggest a role of hematopoietic stem cell in this patient for whom the outcome was fatal.

Child, Preschool↗
PubMed1988

Some characteristics of human red blood cells separated according to their size: a comparison with density-fractionated red blood cells.

During their in vivo ageing, red blood cells (RBC) increase in density and become smaller. Age-defined RBC subpopulations are usually collected by centrifugation. A fractionation according to RBC volume has been proposed as an improved alternative to such age separation. Because a few data reported in the literature indicate some discrepancies between the two methods, blood samples were separated either by centrifugation or by counterflow centrifugation, and some characteristics of the RBC thus fractionated were studied. The enzyme activities decrease either when the density rises or when the volume (MCV) decreases. However, the comparison of other RBC characteristics strongly suggests that these two procedures do not lead to the collection of the same RBC subpopulations: for instance, the hemoglobin content increases when the MCV rises, whereas it remains constant whatever the RBC density is. With radiolabelled cells, it is shown 1) that the most dense RBC are recovered in all the size-separated RBC subpopulations, even though they tend to concentrate in the fractions with the largest MCV, and 2) that the smallest RBC are almost fairly distributed in all the RBC subpopulations, whatever their density, whereas the largest RBC are mainly, but not exclusively, present in the high-density fractions. Thus, fractionation according to size does not match separation according to density. Taken together with results from in vivo experiments carried out in mice and with the fact that reticulocytes are present in all the size-separated fractions, these data suggest that counterflow centrifugation may be a very questionable procedure to achieve a RBC fractionation according to age and therefore that RBC volume might not be a reliable criterion of RBC age.

Cell Separation↗
PubMed1988

Does red blood cell size correlate with red blood cell age in mouse?

Mouse red blood cells (RBC) can be fractionated according to their size by counterflow centrifugation. The mean corpuscular hemoglobin content and the enzyme activities (ASAT, LDH, PK and acetylcholinesterase) increase when the mean corpuscular volume (MCV) rises. However, the in-vivo survival of size-separated RBC is similar whatever their MCV is; thus, counterflow centrifugation is not a suitable procedure to achieve an age fractionation of mouse RBC. Moreover, RBC subpopulations collected by counterflow centrifugation are different from those obtained when RBC are fractionated according to their density.

Animals↗