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Biomedical subjects

C Fonatsch

Publications and source records attributed to C Fonatsch.

At least 181 records · Page 10Linked to original sources

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

Eight patients are reported with a de novo extra inverted duplicated chromosome 15. The abnormal chromosome was considered to be the same in all cases, but its precise delineation remained uncertain and was defined as either 15pter leads to 15q12::15q12 leads to 15pter or 15pter leads to 15q11::15q13 leads to 15pter. Analysis with various techniques of the satellite regions of the bisatellited chromosomes demonstrated maternal derivation in six and paternal derivation in one of the seven families. A non-sister chromatid exchange between the two homologous chromosomes 15 is considered a likely origin of the inv dup(15) in the cases with maternal derivation; in the only case of paternal derivation, however, the abnormal chromosome originated from one single chromosome 15. The clinical findings confirm that patients with inv dup(15) have mental and developmental retardation and are frequently affected by seizures, while severe physical malformations are absent.

Abnormalities, Multiple↗

Correlation of chromosomal aberrations in a myeloma cell line with tumorigenicity in nude mice.

A human myeloma cell line (L 363) exhibiting several markers of malignancy including a 14q + chromosome marker was not tumorigenic in nude mice. Long-term cultivation in vitro resulted in new subclones with slight, well-defined chromosomal differences to the original line. Certain subclones turned out to have a growth advantage in vitro and became tumorigenic after transplantation in nude mice. A strong correlation between changes in the chromosome I constellation resulting in the threefold dose of long arm-material and the increased proliferative potential in both experimental systems was found.

Animals↗

Hodgkin's disease: establishment and characterization of four in vitro cell lies.

Four in vitro cell lines (L 428, L 439, L 538, and L 540) were established from different materials of three patients with Hodgkin's disease: pleural effusions, peripheral blood, and bone marrow. The histological diagnosis was confirmed in all cases by several independent histologists. All four cell lines have been in culture for over 6 months up to over 3 years. The neoplastic nature of the culture cells is indicated by the demonstration of several structural and numeric chromosome abnormalities associated with a monoclonal pattern of marker chromosomes. EBV-specific antigens (EBNA, VCA) were not detected in either cell line. Ia-like antigens, receptors for human T cells, acid phosphatase, and acid esterase were showen to be present in the cultured cells. All cell lines lacked surface or cytoplasmic Ig, HTLA, receptors for C3b, C3d, IgG-Fc, mouse E or sheep E, and were devoid of lysozyme, peroxidase, and chloracetate esterase. The described features do not represent B cells, T cells, myeloid cells, monocytes, or macrophages. The morphology and the marker pattern of the culture cells, however, is identical with that of freshly obtained Hodgkin's (H)- and Sternberg-Reed (SR)-cells, except for the lack of CIg in the in vitro cells, which is explained by the culture conditions. Heterotransplantation in nude mice was achieved by intracranial inoculation and by s.c. transplantation of cultured cells embedded in a plasma clot. The described findings suggest that these cultured Hodgkin's cell lines are indeed derived from H and SR cells. The cellular origin of these cells is not clear, the loss of cellular differential markers during the process of possible dedifferentiation is discussed.

Adult↗

Two neoplastic cell lines with unique features derived from Hodgkin's disease.

Two in vitro cell lines (L428, L439) were established from pleural effusions of two patients with Hodgkin's disease. The histological diagnosis was ascertained in both cases by two independent pathologists. The neoplastic nature of the culture cells is indicated by the demonstration of several structural and numerical chromosome abnormalities associated with a monoclonal pattern of marker chromosomes. Heterotransplantation in nude mice was achieved by intracranial inoculation and by subcutaneous transplantation of cultured cells embedded in a plasma clot. EBV-specific antigens (EBNA, VCA) were not detectable in either cell line. Ia-like antigens, receptors for T cells, acid phosphatase and acid esterase were shown to be present in the cultured cells. The L428 and L439 cell line lacked surface- or cytoplasmic Ig, HTLA, receptors for C3b, C3d, IgG-Fc, mouse E or sheep E, and were devoid of lysozyme, peroxidase and chloracetate esterase. These features do not correspond to those of B cells, T cells, myeloid cells, monocytes or macrophages; the morphology and the marker pattern of the culture cells, however, is identical with that of freshly obtained Hodgkin (H)- and Sternberg-Reed (SR)- cells, except for the lack of Clg in the in vitro cells, which is explained by the culture conditions. These findings suggest that the L428 and L439 cell lines are indeed derived from H- and SR-cells and offer the possibility of gaining new information upon the nature of Hodgkin's disease.

Adult↗

A possible correlation between the degree of karyotype aberrations and the rate of sister chromatid exchanges in lymphoma lines.

The sister chromatid exchange (SCE) frequencies of six freshly established and two old cell lines derived from patients with lymphatic tumors or leukemia were compared to the SCE rates of lymphoblastoid cell lines of normal controls. All cell lines from malignant tumors displayed significantly higher SCE values than the control lines. In general, the SCE rates seem to be correlated to the number of chromosomal markers and the degree of karyotypic instability of each line.

Cell Line↗

Sister chromatid exchange in cell lines from malignant lymphomas (lymphoma lines).

The frequency of sister chromatid exchanges (SCEs) was studied in cells from three freshly established lymphoma lines, derived from two patients with Hodgkin's disease and one patient with non-Hodgkin lymphoma. These values were compared to SCE rates found in cells from two long-established lymphoma lines (Raji and BJAB) and to those recorded in control cell lines of normal human donors. The highest SCE levels were demonstrated in the freshly established lymphoma lines, the lowest SCE values separated the lymphoblastoid cell lines from healthy controls, and the older lymphoma lines Raji and BJAB presented rates in between. The influences of BUDR concentration and of the duration of BUDR treatment on the frequency of SCEs were tested. Furthermore, the dependence of the SCE rate on the time interval between establishment of the cell line and its SCE investigation was considered. The connection between elevated SCE rates and the neoplastic nature of lymphoma lines is discussed.

Animals↗

Frequency of sister chromatid exchanges in a balanced reciprocal whole-arm translocation.

The frequency of sister chromatid exchanges (SCEs) in the centromere of chromosomes involved in a whole-arm translocation t(1:19) was evaluated in altogether 911 metaphases of translocation carriers (n = 5) and of normal controls (n = 6). Comparison of the two groups reveals no significant differences in the SCE rate (x2 = 3.06, nf = 1). The question as to whether the possible increase of the SCE rate at the translocation point could be detected by light microscopy is discussed. Parameters included in the discussion are the ratio of the SCE frequency at the translocation point to the SCE frequency at any of the possible breakage points in the centromeric region and the number of possible breakage points in the centromeric region.

Chromosome Aberrations↗

Intracranial heterotransplantation of human hematopoietic cells in nude mice.

A panel of established cell lines and many primary cell specimens from lymphomas and leukemias as well as from normal lymphatic tissues were tested for tumorigenicity by intracranial heterotransplantation in nude mice. Not only lymphoma and leukemia cell lines, but also lymphoblastoid cell lines, lacking markers of malignancy, were tumorigenic in the brains of nude mice. These findings indicate that tumorigenicity following intracranial heterotransplantation in nude mice cannot be used as proof for the malignant nature of established cell lines. Heterotraplantation of primary cell specimens yielded only a few tumor takes. When primary cells were infected with exogenous Epstein-Barr virus prior to the transplantation procedure, tumorigenicity could be significantly increased. Cytogenetic evaluation of tumors growing after intracranial transplantation of human hematopoietic cells showed, in some cases, a selection of cytogenetically aberrant cell clones.

Animals↗

Balanced reciprocal whole-arm translocation t(1;19) in three generations.

Seven carriers of a balanced reciprocal whole-arm translocation of chromosomes 1 and 19 were found in 19 members investigated in three generations of one family. The apparent lack of a carrier of an unbalanced form of the translocation and of a history of miscarriages are discussed.

Abortion, Spontaneous↗

Long-term cultivation of plasma cell leukemia cells and autologous lymphoblasts (LCL) in vitro: a comparative study.

Two long-term cell lines were established in vitro from the peripheral blood of a patient with plasma cell leukemia: one line with plasma cell proliferation, the other with lymphoblastoid cell proliferation (LCL). The 9-month-old plasma cell line showed the typical morphology of plasmoblasts. The cells neither had B- nor T-lymphocyte characterisitics, were EBV negative, and showed aneuploidy with various marker chromosomes, including the 14 q+ marker. The cytogenetic findings indicate a monoclonal proliferation of the plasmacells. No tumor growth in thymusless nude mice could be induced upon intracranial inoculation with these cells. In contrast, the autologous LCL, cultured after addition of exogenous EBV, showed the characteristic markers of lymphoblastoid cells, with the typical morphology of pear- and handmirror-shaped lymphoblasts, growing in clumps. They had C3- and Fc-receptors, surface-Ig, E-rosette-negativity, a diploid karyotype, and EBV dependent macromolecule synthesis. They lymphoblastoid cells produced intracranial tumors in nude mice in 8 out of 8 attempts.

Adult↗

Chromosome analyses in man in the course of chemoprophylaxis against tuberculosis and of antituberculosis chemotherapy with isoniazid.

Cytogenetic analyses were carried out in lymphocytes of 37 persons before and during a primary chemoprophylaxis or a preventive chemotherapy with isoniazid as well as of 30 patients suffering from active pulmonary tuberculosis before and during a chemotherapy with isoniazid in combination with two other antimycobacterial drugs. The results of the four participating research groups consistently reveal no indication for a chromosome damaging activity of isoniazid, of its metabolites in the human organism and of the administered drug regimens.

Adolescent↗

Effect of nitrofurantoin on meiosis of the male mouse.

The effects of nitrofurantoin [N-(5-nitro-2-furfurylidine)-1-amino-hydantoin] on chromosomes of primary and secondary spermatocytes of mice were studied. No mutagenic activity was detectable after application of either 8 mg/kg or 40 mg/kg nitrofurantoin. An increase in the univalent rates and a decrease in the chiasma frequencies was observed in treated animals. The probable origins of these effects are discussed.

Animals↗