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Biomedical subjects

A Bernheim

Publications and source records attributed to A Bernheim.

At least 181 records · Page 10Linked to original sources
PubMed1983

Malignant and reactive erythroblasts in erythroleukemia (M6).

A cytogenetic and cytological study of 16 cases of erythroleukemia (M6) is reported. No chromosomal abnormalities were observed in 10 cases. Abnormalities were present in the other 6 cases, of which 4 were complex abnormalities. It was not possible to establish any correlation between the occurrence of morphologic abnormalities of the erythroid and megakaryocyte-platelet series and the presence of cytogenetic defects. Studies of mitoses by cytologic and cytogenetic methods concurrently performed in some cases suggest that two types of erythroleukemia can be distinguished: (1) cases with chromosomal abnormalities and a persistence of erythroblast mitoses in vitro (which suggests that the erythroblasts belong to the leukemic clone) and (2) cases with no chromosome abnormality and a disappearance of erythroblast mitoses after culture, suggesting that the erythroblasts are not members of the leukemic clone.

Adult↗
PubMed1983

Cytogenetic studies on Burkitt's lymphoma cell lines.

Cytogenetic findings on 15 new cell lines established from endemic and nonendemic Burkitt's lymphoma are reported. Specific translocations t(8;14) and t(8;22) were found, respectively, in 13 and in 2 of the cell lines. Particular attention has been paid to the additional chromosome abnormalities found in 10 of the 15 cell lines. These anomalies involve the long arm chromosome No. 1 with a relatively high frequency. These additional chromosome anomalies argue in favor of the concept of the existence of primary and secondary chromosome abnormalities in malignancies.

Adolescent↗
PubMed1983

Direct hybridization of sorted human chromosomes: localization of the Y chromosome on the flow karyotype.

A method is described for directly hybridizing a small number of sorted chromosomes with specific DNA probes. The chromosomes are analyzed by flow cytometry and sorted by deflecting the droplets containing the desired chromosomes onto a nitrocellulose filter. By using probes specific for the human Y chromosome, it has been possible to unambiguously identify the peak corresponding to the Y chromosome in the flow karyotypes of a variety of male cell lines. The position of this peak was found to vary significantly from individual to individual, correlating with the heterochromatin chromosomal polymorphism of the human Y chromosome. The sensitivity of the hybridization was such that, with a probe for a male-specific repetitive sequence, only 2,500 sorted chromosomes were enough to obtain a clear, positive signal; 10,000 were needed with a probe specific for a weakly repeated (maximum, 3-fold) sequence of Y chromosome. With this new method, chromosome sorting may be a rapid and efficient way to assign DNA sequences to chromosomes.

Burkitt Lymphoma↗
PubMed1983

[Prenatal diagnosis of a harlequin fetus using electron microscopy].

We have diagnosed a Harlequin fetus at 22 weeks' gestation. Harlequin syndrome is a fatal, congenital disorder of keratinization whose biochemical basis is unknown. The parents were second cousins and had had four children, two with the Harlequin syndrome who had died at birth and two normal children. During the fifth pregnancy the parents asked us to find out if the fetus was affected. Multiple skin biopsies were done by fetoscopy during the 22nd week of gestation. On binocular loupe examination the skin appeared thickened and fragile to the touch; light and electron microscopy revealed a remarkably thickened stratum corneum with involvement of both follicular and interfollicular epidermis, a feature characteristic of a Harlequin fetus at term. The pregnancy was terminated in the 24th week of gestation: the fetus had all the characteristic clinical features of Harlequin fetus.

Abnormalities, Multiple↗
PubMed1983

[Cytogenetics and acute non-lymphoblastic leukemias. Value of short-term cultures].

Normal and abnormal results of chromosome studies performed on 101 acute nonlymphoblastic leukemia (ANLL) patients were compared according to the bone marrow and/or blood cell culture times. A higher proportion of abnormal karyotypes was observed after culture than on direct preparations in acute promyelocytic leukemia and in acute myeloblastic leukemia with t(8-21) translocation; in some cases the chromosome abnormality seen after culture was not detected with the direct technique. No clear-cut differences in chromosome studies resulted when the differing techniques were applied to other forms of ANLL. In contrast the classification of individual patients into AA and AN categories differed in some cases when determined by direct or culture techniques. These results have to be taken into consideration in the study of relationships between chromosome anomalies and prognosis.

Acute Disease↗
PubMed1983

[Prognostic value of chromosome anomalies in acute non-lymphoblastic leukemias].

The results of a cytogenetic study on 240 acute nonlymphocytic leukemia patients (187 adults and 53 children) were classified in NN (normal), AN (abnormal and normal) and AA (abnormal). Pronostic value of the classification was presented. A higher proportion of complete remission failures was observed in chromosomally abnormal patients (AN and AA). Survival of patients with complete remission was significantly shorter in AN and AA patients than in NN patients. An excess of constitutional chromosome abnormalities was observed in children.

Acute Disease↗
PubMed1982

Correlation between immunoglobulin light chain expression and variant translocation in Burkitt's lymphoma.

Burkitt's-type lymphomas-leukaemias (BL) are monoclonal proliferations of malignant B lymphocytes. Irrespective of whether they carry the Epstein-Barr virus (EBV) genome, these tumour cells have been shown consistently to have one of the specific reciprocal chromosome translocations, t(8; 14), t(2; 8) or t(8; 22), involving the long arm of chromosome 8 (on 8q24) and chromosome 14, 2 or 22 (on 14q32, 2p12 and 22q11, respectively). The latter chromosomes have been shown recently to carry genes for immunoglobulin (Ig) heavy chains, and kappa and lambda light chains, respectively. Furthermore, the localization of kappa light chains within 2pcen-2p13 encompasses the breakpoint observed in Burkitt's translocation (2p12). It was therefore considered of interest to determine whether the expression of immunoglobulin chains in BL cells is related to the type of chromosomal anomalies observed. We report here that there is a direct relationship between expression of immunoglobulin light chains and specific type of translocation: BL cells with t(8; 22) express lambda chains, whereas those with t(2; 8) express kappa chains.

Adolescent↗
PubMed1982

Acute monocytic leukemia chromosome studies.

Cytogenetic studies have been performed on 34 acute monocytic leukemia (M5) patients, 24 of the a type and 10 of the b type. No chromosomal abnormalities were found in 12 cases, in spite of the fact that the mitoses concerned monocytes. Different chromosomal aberrations were present in the other cases. In 12 of them, an abnormality of the chromosome 11 long arm was observed (mainly in the poorly differentiated type of M5), on bands q22-q24 in nine cases and on band q14 in three cases. The chromosome 11 long arm thus appears preferentially rearranged in M5 although this is not apparent in every case. Concomitant study of the mitoses with cytological and cytogenetic techniques suggests that erythroblasts may not be involved in the M5 leukemic process.

Adolescent↗
PubMed1982

Cytogenetic studies on Burkitt's lymphoma-leukemia.

Chromosome studies on 26 cases of Burkitt's cell malignancy are reported, including 7 lymphomas and 19 acute lymphocytic leukemias. A specific translocation was found in 26 of the patients: 20 t(8;14), 4 t(8;22), and 1 t(2;8). In one other case only 2 mitoses out of 59 were found to have a probable t(8;22) translocation. Additional chromosomal abnormalities were found in 15 of the patients, irrespective of whether they had or had not been treated before cytogenetic investigation. The most remarkable was a partial duplication of chromosome 1q. The presence of additional chromosomal abnormalities together with a specific translocation allows a distinction to be made between specific and secondary chromosome anomalies. The implications of the two types of aberrations for research into the molecular mechanisms of malignancy are discussed.

Adolescent↗
PubMed1982

C-banding studies in acute nonlymphocytic leukemia.

C-Banding studies were performed on cells of 100 acute nonlymphocytic leukemia (ANLL) patients. No differences were found among patients in regard to age or sex. When compared to 70 healthy controls, an excess of a symmetrical distribution of 9qh was found, mainly due to an increased incidence of changes at level 2 according to the Patil and Lubs classification.

Adult↗
PubMed1982

[Chromosome instability syndromes].

Chromosome instability syndromes are defined by either an increase of chromosomal breakage or by an increase of sister chromatid exchange number, or by an increase of the two. Bloom's syndrome, Ataxia telangiectasia, Fanconi's Anemia are the main components of this group. The incidence of cancers or malignant blood diseases is high. The finding of DNA repair abnormalities in some of them and their high sensitivity to particular mutagenic agents makes those syndromes an interesting model for oncogenesis.

Anemia, Aplastic↗
PubMed1982

Cytologic characterization and significance of normal karyotypes in t(8;21) acute myeloblastic leukemia.

A cytologic and cytogenetic study of 10 cases of acute myeloblastic leukemia with maturation and t(8;21) translocation is reported. Despite a certain polymorphic appearance, the characteristic cytologic picture, consisting essentially of large myeloblasts with an abundant cytoplasma containing a large Auer rod, allowed the presence of the chromosome anomaly to be predicted. t(8;21) translocation was attended by the loss of a sex chromosome in 7 of 10 cases. The comparative study of mitoses using cytologic and cytogenetic techniques showed that cells exhibiting normal karyotypes were essentially erythroblasts. This finding suggests that the chromosome anomaly does not affect all the bone marrow cell lines. After short-term culture, the percentage of normal karyotype mitoses diminished, as did the number of mitoses in erythroblasts.

Adolescent↗
PubMed1981

[Correlation between variant translocation and the expression of immunoglobulin light chains in Burkitt-type lymphomas and leukemias].

The study--on continuous cell lines or on fresh tumor cells--of chromosomes and immunoglobulins from 29 Burkitt-type lymphomas or leukemias showed a strong correlation between translocation t (2; 8) and expression of kappa light chains on the one hand, and between translocation t (8; 22) and expression of lambda chains on the other. The positions of the genes that code for these immunoglobulin chains, on chromosomes 2 and 22, respectively, suggest a precise regional localization close to the break-points observed in the translocations (2p12 and 22q11). These results should make it possible to look for and identify the DNA sequences that are implicated in the malignant transformation of these cells, using molecular biology techniques.

Burkitt Lymphoma↗