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Biomedical subjects

E Oláh

Publications and source records attributed to E Oláh.

At least 19 recordsLinked to original sources

Burkitt's lymphoma with 3;14 and 2;8 translocations simultaneously.

Burkitt's lymphoma of a ten-year-old boy with specific 8;14 and variant 2;8 translocations is reported. The post mortem diagnosis of Burkitt's lymphoma was based on histological picture and the cytogenetic findings of the tumor biopsy. The child died four days after clinical admission. Because of the rapid progression of the disease immunological and serological investigations could not be performed. Therefore several questions remained unclarified. It is supposed that in the patient's B-lymphocytes multiple transformation events occurred leading to the development of the polyclonal lymphoma, similarly to that described in transplant-associated lymphoproliferations.

Burkitt Lymphoma

[Cytogenetic studies in Wilm's tumor].

Chromosome analysis was on tumor cells and peripheral lymphocytes from three cases with Wilms' tumor (WT) carried out. In one of them WT was associated with aniridia, in the other two cases WT developed without any congenital malformations. Deletion in the short arm of chromosome 11 [del(11)(p13)] was found in the tumor cells such as lymphocytes in the patient with aniridia--WT association. The constitutional karyotype of other two patients proved to be normal. In the tumor cells of one of them a normal karyotype was found, while the other child had hyperdiploid karyotype. The role of chromosome 11p deletion, in respect of molecular biological knowledge in tumor genesis, is discussed. Results reported here suggest that children with aniridia associated with a constitutional deletion at the 11p13 locus have a high risk for developing WT and therefore require careful ultrasound follow up.

Chromosome Deletion

[A case of hybrid acute leukemia in a a child].

Hybrid acute leukaemia is characterized by the presence of lymphoid and myeloid markers in a single cell or in different blast cell subpopulations of the same patient. Authors report on a case of a 14-yr-old girl with hybrid acute leukaemia. Immunofluorescent analysis revealed CD 14, CD 10, CD 19 and HLA-DR antigens in the cell suspension isolated from peripheral blood of the patient. Because of the excess of FAB M1 type blast cells, the patient was treated according to IGCI-1984 protocol. Remission was not achieved despite combined cytotoxic treatment and patient died within 4 weeks following admission. The poor outcome of the disease agrees well with literature data. Hybrid acute leukaemia represents a challenge for the clinical science.

Adolescent

Expression of key enzymes of purine and pyrimidine metabolism in a hepatocyte-derived cell line at different phases of the growth cycle.

The effect of growth phase on enzymatic activities of the de novo and salvage pathways for purine and pyrimidine nucleotide synthesis was studied in a hepatocyte-derived cell line from the rat. The cells were in lag phase after plating for 36 h; log phase started at 48 h and persisted up to 120 h of culture. Then the cells stopped growing and entered into plateau phase (144 h). In non-proliferating cells (144 h of culture) the basal activities of the enzymes of purine de novo biosynthesis were 1.7- to 6.8-fold higher than in normal rat liver, those of pyrimidine de novo synthesis showed 0.6- to 30-fold increase in activity. The purine salvage enzymes were unchanged, and the pyrimidine salvage enzymes were 3.1- to 7.4-fold higher compared to normal liver. During the growth cycle all enzymes except the purine salvage enzymes, which did not change, showed a peak in activity at 72 h of culture (log phase). The increase in activity in log phase compared to plateau phase was 1.3- to 2.4-fold for purine de novo synthetic enzymes, 1.1- to 2.4-fold for pyrimidine de novo enzymes, and 1.4- to 4.7-fold for pyrimidine salvage enzymes. The specific activities of the enzymes in exponentially growing cells were comparable either to that in 24-h regenerating liver, or to that in hepatomas of low or medium growth rate. It was concluded that the enzymatic pattern and metabolic state of the cells shared some features with regenerating liver, others with tumors, although they were not tumorigenic after transplantation into athymic nude mice.

Animals

Prognostic value of chromosome aberrations in childhood acute lymphoid leukemia (ALL).

Cytogenetic analyses were performed on 43 children with acute lymphoblastic leukemia (ALL) before starting the therapy. Evaluable metaphases were obtained in 26 cases (60.46 %). The prognostic value of the initial chromosome picture and that of the different non-cytogenetic prognostic features was studied. In 14 out of 26 children (53.85 %) clonal chromosomal aberrations were found. The prognosis in the normal and normal/abnormal groups was significantly better than in patients with only abnormal cells. They found the remission rate of the diploid and hyperdiploid groups to be better and the survival duration significantly longer than in the pseudodiploid patients. Studying the correlation between the cytogenetic and non-cytogenetic findings the diploidy and hyperdiploidy seems to associate with low risk factors, while pseudodiploidy with high risk factors. When opposite cytogenetic and non-cytogenetic prognostic parameters were associated, the outcome of disease was determined by the cytogenetic picture. In eight patients out of the 14 children with abnormal karyotype various specific aberrations were found. While patients with specific translocations had a poor prognosis, the prognosis of the patients with 6q- was relatively good. The findings support the necessity of chromosome examination in all the children with ALL at diagnosis in order to distinguish the poor risk patients from the good ones.

Adolescent

[Clinical significance of chromosome number deviations in myelodysplastic syndromes and in acute non-lymphoid leukemia].

The cytogenetic data of 77 patients (47 adults and 30 children) with myelodysplastic syndromes and acute non-lymphoid leukemia are evaluated with regard to the morphological types of leukemia and prognosis. The groups of the adult patients were found to be different in the frequency and types of non-random chromosome aberrations. In patients with secondary leukemias and mutagen-related leukemias the incidence of chromosomal abnormalities was higher than in those with the idiopathic form of the disease. Specific abnormalities were total or partial loss of chromosome 5 and/or 7, and an additional chromosome 8. In contradistinction to these the patients with primary leukemias had specific translocations associated with pseudodiploidy. We found the frequency of aberrations in adults exposed to mutagen agents similar to that in children with ANLL, but the types of aberrations were similar to those of adults without any exposition. Comparing the median duration of remission and survival of patients' groups with different cytogenetic findings we found the chromosome aberrations to be of prognostic value. The present data demonstrate the usefullness of cytogenetic investigations in the diagnosis of the disease and in morphological and etiological classification of patients.

Adult

Abnormalities of chromosome 1 in relation to human malignant diseases.

Chromosome 1 is known to often be involved in various malignant diseases. Its numerical and structural aberrations have been observed in chronic and acute leukemias and solid tumors as well. Recently five protooncogenes have been assigned to the long and short arms of chromosome 1. The frequent and nonspecific occurrence of chromosome 1 rearrangements in human tumors suggests that they play an important role in the pathogenesis and progression of these diseases. The frequency, types, and time of the occurrence of chromosome 1 aberrations and their relation to the stage of the disease were studied in 317 patients with various malignant diseases. In ten patients nonrandom aberrations of chromosome 1 were observed. Two patients had CML, two PRV followed by ANLL, and the remaining six patients suffered from ANLL, ALL, Burkitt lymphoma, MF, SMMoL, and IRSA, respectively. In six patients, total or partial trisomy of the long arm or of the whole chromosome 1 was present, and in three cases balanced translocations involving chromosome 1 could be found. In the cells of one patient a duplication of the centromeric heterochromatin was seen. We analyzed the breakpoints involved. Finally, the aberrations of chromosome 1 were almost always be observed at the terminal stage of the diseases.

Adult

A nationwide evaluation of multiple congenital abnormalities in Hungary.

A population-based study of 7,049 index patients with multiple congenital abnormalities (MCA) born in Hungary during 1973-1982 was organized by the Hungarian Center for Congenital Anomaly Control. All clinically recognized syndromes and associations which were submitted (2,049) were accepted without any further follow-up. New or supplementary information was requested in the case of unspecified MCA (320). A copy of detailed necropsy records was requested from pathologists in lethal cases (2,022). Following these steps, apparent but not true instances of MCA were excluded (399), and an attempt was made to assign as many of the remainder as possible in 17 well-delineated MCA entities (900). The living index patients with severe MCA were referred where possible to the regional centers for evaluation (864). One hundred and seventy entities were identified, and seven cases were excluded as not representing MCA. In the so-called 3,393 unidentified cases for which no diagnosis was possible, the component abnormalities were tabulated according to their number. The final count was 6,643 cases with MCA, which is equivalent to a birth prevalence of 4.0 per 1,000 total births, and to 10% of recorded cases with congenital anomalies. As a result of this program the proportion of recognized syndromes and associations among children with MCA increased from 29% to 47%. The accuracy of diagnoses has improved, e.g., the occurrence of unspecified cases decreased from 4.5% to 2%. As a result of this study, the number of chromosomal (1,700), Mendelian (557), and teratogenic (104) syndromes and associations (758) was considerably greater than the initial notifications indicated.

Abnormalities, Drug-Induced

Cytogenetic investigations on children with acute non-lymphocytic leukemia.

Cytogenetic data from 30 children with acute non-lymphocytic leukemia (ANLL) are evaluated in connection with patient's age, morphological type of leukemia and prognosis. In 20 out of 30 patients clonal chromosome aberrations were found. The frequency of chromosome aberrations and the prognostic parameters in the various morphological and age groups proved to be different and no direct relationship could be found in a given group between the frequency of aberrations and the prognosis. A more detailed analysis of data, however, provided some evidence that chromosome aberrations observed at diagnosis had a prognostic value independent of age and the morphological properties of blast cells: the normal karyotype and the pseudodiploidy proved to be of a favorable value but the hyperdiploidy and polyploidy an unfavorable prognostic parameter. Besides the known cytogenetic differences between childhood and adult ANLL, some similarities are also emphasized.

Acute Disease

Carcinogenicity and genotoxicity of the herbicide 2,4,5-trichlorophenoxyethanol (TCPE) contaminated with dioxin.

In an earlier study 2,4,5-trichlorophenoxythanol (TCPE) contaminated with dioxin, a component of the Hungarian herbicide Buvinol, was found to be hepatocarcinogenic. In the present work, the hepatocarcinogenicity of TCPE was compared to its possible genotoxicity in vitro, using the Salmonella/microsome test for mutagenicity and for its DNA-damaging effect, the induction of sister chromatid exchanges (SCE) in Chinese hamster cells in vitro. It was found that purified TCPE (with 0.1 ppm dioxin content) was under no conditions mutagenic by the Ames test, i.e., it belongs to the group of false-negative chemicals. TCPE was, however, genotoxic; its DNA-damaging effect was demonstrated by an increase in the frequency of SCE, while pure dioxin of corresponding amount was ineffective. However, elevated SCE frequency and the toxicity on bacteria and mammalian cells by TCPE were significantly decreased by the metabolic activation system (S-9 mix) isolated from liver. This observation indicates that in the detoxication of TCPE in vitro, a key role is to be attributed to the hepatic microsomal enzymes. It is presumed that TCPE is hepatocarcinogenic only in a dose range which has exhausted the detoxicating capacity of the liver.

2,4,5-Trichlorophenoxyacetic Acid

Characterization of "fetal-type" acetylcholinesterase in hemin-treated K562 cell culture.

The alteration of acetylcholinesterase (ACHE) activity, a marker enzyme of erythroid differentiation, was studied during the hemin-induced erythroid differentiation of K562 human leukemia cells in suspension culture. The kinetics of postinduction differentiation was followed by determining the hemoglobin (Hb) content and the ACHE activity of cells. Embryonic hemoglobins as well as small quantities of fetal Hb (HbF) were synthetized by stimulated cells. The peaks of ACHE activity preceded the highest level of Hb content and, following induction, reached their pinnacles at 72 and 120 hours, respectively. These data indicate that ACHE activity is an earlier and more sensitive marker for hemin-induced erythroid differentiation of K562 cells than is elevated Hb content. Electrophoretic mobility of ACHE from hemin-treated cells proved to be the fetal type, but after incubation with neuraminidase, the rate of migration decreased to the level of the adult type enzyme.

Acetylcholinesterase

History of patients with chronic granulocytic leukaemia observed in 1974-1984.

138 CGL-patients were treated in 1974-1984. The female-male ratio was 1.26. In the majority (82.3%) of the 68 patients having died at the blastic phase, all three phases of the disease could be followed. The chronic phase lasted for 31 months. The accelerated disease was detectable in 56 patients, with a mean duration of 5.3 months. The blastic phase, lasting for 4.1 months, was morphologically heterogeneous. Using adequate methods, several groups could be distinguished, i.e. myeloid in 38.3, promyelocytic in 2.9, myelomonocytic in 19.1, megakaryoblastic in 14.7, lymphoblastic in 13.2 and mixed blastic in 11.8%. 23 patients died prior to the development of the blastic phase (9 in the chronic phase, 12 in the accelerated phase and two with chronic neutrophilic leukaemia). The mean survival was in accordance with that in the literature, i.e. 40.6 months. The shortest survival was shown by the lymphoblastic group with the difference manifesting already in the chronic phase. Females survived 13-14 months longer than did males.

Adolescent