PubMed Health⌕ Search

Biomedical subjects

C Fonatsch

Publications and source records attributed to C Fonatsch.

At least 145 records · Page 8Linked to original sources
PubMed1989

Translocation of c-abl oncogene and PDGFB (c-sis) gene in a case of CML with 46,XY, t(22;22).

In a case of CML with a variant Philadelphia translocation (Ph1 or Ph) t(22;22) (q11;q13) in bone marrow cells and unstimulated peripheral blood cells, no cytogenetically detectable involvement of chromosome 9 was observed. Southern blot experiments using probes specific for bcr and c-sis however revealed rearrangement of the bcr, but not of PDGFB (c-sis) gene. Northern blot analysis of bone marrow RNA showed a very weak signal with the c-sis probe, while in a lymph-node biopsy PDGFB m-RNA could not be detected. Chromosomal in situ hybridization gave evidence for translocation of c-abl from chromosome 9 to Ph and of PDGFB from chromosome 22 to chromosome 9, as the result of a threefold translocation t(9;22;22).

Bone Marrow↗
PubMed1989

Characterization of rearranged Y chromosomes in human testicular tumor cell lines.

Cytogenetic analysis of four cell lines established from two different human testicular tumors revealed rearranged or missing Y chromosomes. Southern blot analysis and in situ hybridization with different Y-derived human DNA sequences revealed the existence of Y chromosomal material even in a line without a cytogenetically visible Y chromosome and clarified the composition of Y marker chromosomes.

Base Sequence↗
PubMed1989

Recombinant human interferon (IFN) alpha-2b in chronic myelogenous leukaemia: dose dependency of response and frequency of neutralizing anti-interferon antibodies.

Twenty-seven patients with Philadelphia chromosome positive chronic myelogenous leukaemia in the chronic phase were treated with low doses of recombinant interferon (IFN) alpha-2b. Ten patients entered a complete and six a partial haematologic remission with a median duration of 5.8 and 9.1 months respectively. Five minor cytogenetic responses were observed. These results are inferior compared to other studies with higher interferon-doses. Fever was an acute side effect after injection of IFN, limb pains and fatigue occurred protractedly. Haematologic side effects, nonspecific EEG changes, weight loss, and development of pulmonary infiltrates were observed in later periods of the treatment. Eight patients developed neutralizing anti-IFN antibodies after 4.2-20.4 months (median 12.8 months). Anti-IFN antibodies were associated with relapse or refractoriness to IFN treatment: five out of nine patients with rising WBC after initial fall had antibodies, while four did not. Two out of four patients with primary non-response had IFN-antibodies. These results may indicate a serious problem in the long-term treatment of CML with recombinant interferon.

Adolescent↗
PubMed1989

[Morphology and growth characteristics of human renal cell carcinoma in correlation to cytogenetic data].

Previous cytogenetical studies of renal cell carcinomas reported non-uniform results, but some chromosomes or chromosomal segments seemed to be affected more frequently by chromosomal aberration. This study was undertaken to determine a possible association between morphology, growth fraction (Ki-67, APAAP-method), and cytogenetical data of renal cell carcinomas. Our results show a variety of chromosomal aberrations, which do not correlate with morphological typing of the tumors. A single characteristic anomaly could not be found. There is an inverse correlation between complexity of chromosomal aberrations and size of growth fraction. For further interpretation of our results detailed molecular-genetic studies are necessary, which should investigate whether growth factors, oncogenes, or other genes are influenced by the reported chromosomal aberrations.

Antigens, Surface↗
PubMed1988

T-cell acute childhood lymphoblastic leukemia with chromosome 14 q 11 anomaly: a morphologic, immunologic, and cytogenetic analysis of 10 patients.

Ten patients with T-cell acute lymphoblastic leukemia (ALL) and a chromosome anomaly involving band 14 q 11 are described. Mitotic index of bone marrow blasts was high in all patients (average 3.0%). Lymphoid morphology of the leukemic blasts, however, varied somewhat among the patients. The leukemic cells of 5 patients showed an immunophenotypic profile corresponding to early or common thymic differentiation stages whereas 5 children showed strong expression of CD 3 suggesting a more mature thymic phenotype. Leukemic karyotypes revealed a modal chromosome number of 46 in 9 cases, 92 in one case. A chromosome translocation t(11; 14) (p 13; q 11) was found in 5 cases, a t(1; 14) (p 32; q 11) in 2 cases, a t(10; 14) (q 24; q 11) in one case, a (hitherto undescribed) t(12; 14) (q 22; q 11) in one case, and an inv (14) (q 11 q 32) in one patient. Additional abnormalities were t(3; 10), t(7; 9), dup(7 q), del(6 q), del(10 q), and del(1 q). Of 32 cases with T-cell ALL successfully karyotyped in our laboratory 15 (= 47%) had structural aberrations involving chromosomes 1, 3, 6, 7, 9, 10, 12, 14. Ten of these 15 patients (= 67%) had a chromosome 14 q 11 anomaly. It is concluded that chromosome band 14 q 11, the gene locus of the T-cell receptor alpha-chain, is the most common site for structural chromosome aberrations in T-cell ALL.

Acute Disease↗
PubMed1987

Phenotype versus immunoglobulin and T-cell receptor genotype of Hodgkin-derived cell lines: activation of immature lymphoid cells in Hodgkin's disease.

Three Hodgkin-derived cell lines (L428, L540, and CO) were studied for rearrangements and expression of immunoglobulin and T-cell receptor genes, and their genotype was compared to the phenotype. As far as the genotype is concerned, all 3 cell lines have characteristics of lymphoid cells; L428 of B, and L540 and CO of T-cell origin. L428 cells have one Ig heavy chain allele rearranged to C gamma and transcribed into RNA, while the second is deleted. Furthermore, L428 cells show an unusual immunoglobulin kappa light chain gene rearrangement involving deletion of the kappa constant gene in one allele, while the remaining kappa and lambda loci are in germline configuration. L540 and CO have, in contrast to L428 cells, the immunoglobulin genes in germline and T-cell receptor genes rearranged. The T-cell receptor beta and gamma genes are rearranged in both L540 and CO, whereas a rearrangement in the alpha locus was detected in L540 cells only. RNA of the size of functional beta chain transcripts was found in CO cells and of the size of functional alpha chain transcripts in L540 cells. All 3 cell lines are classified as immature lymphoid cells with respect to the limited expression of B- and T-cell antigens, respectively, and to the incomplete expression of their antigen receptor. The immaturity of lymphoid differentiation contrasts with the expression of activation antigens, i.e. Ki-1, Ki-24, HLA-DR, and IL-2 receptor. The immaturity of the cells excludes the possibility that the cells were activated along the physiological pathway, i.e. by interaction of the cell with antigen. The results obtained on the cell lines are in accordance with in vivo studies and suggest that Hodgkin and Sternberg-Reed cells are immature lymphoid cells which are activated by a still unknown mechanism.

Cell Line↗
PubMed1987

Translocation (6;9)(p23;q34) in smoldering leukemia and acute nonlymphocytic leukemia.

Two further cases with myeloproliferative disorders (a child with smoldering leukemia and a young male with acute nonlymphocytic leukemia of FAB type M2) and a translocation t(6;9)(p23;q34) are described. Special attention is paid to environmental factors and the early age of onset of patients within the group of leukemias with this specific translocation. In one of our cases a secondary chromosomal anomaly has arisen, which is comparable with another case from the literature.

Acute Disease↗
PubMed1987

Cell lines of human germinal cancer.

Three new established human germ cell tumour lines, H 12.1, H 12.5 and H 12.7, are described. Cytogenetic and growth characteristics, morphology, histology, and tumour marker and steroid hormone production in vitro and/or in vivo revealed properties commonly found in other germ cell tumour lines and in patients with these tumours. In vitro oestrone and oestradiol were produced by the H 12 lines and four other lines (833 KE, 1156 Q, 1428 A and 2102 EP) under high and low density (differentiation inducing) conditions. AFP was produced by one line and beta-hCG by six of seven lines under low density conditions. The pattern of oestrogen production suggests that these hormones could be useful in AFP and beta-hCG negative patients. Differentiated elements of somatic and extraembryonic character, observed in tumours of H 12.1 and H 12.7, underline the value of these lines in the study of differentiation and other germ cell tumour related questions.

Animals↗
PubMed1987

Assignment of the TCP1 locus to the long arm of human chromosome 6 by in situ hybridization.

TCP1, the human homolog of the Tcp-1 locus in the mouse, which is part of the murine t complex and codes for an abundant testicular germ-cell protein, has been mapped within the human genome by in situ hybridization. Using a cDNA probe for TCP1, pB1.4 hum, we assigned TCP1 to human chromosome region 6q23----qter, with the most likely localization being 6q25----q27.

Animals↗
PubMed1987

[Chromosome aberrations and malignant lymphomas].

Chromosomal findings in malignant lymphomas are correlated to the histopathology and the immunologic phenotype of lymphoma subgroups. The prognostic significance of a cytogenetic analysis and its value for therapy planning are discussed. With respect to tumorigenesis it is emphasized that a number of proto-oncogenes and genes for cell differentiation, such as immunoglobulin and T-cell receptor genes, have been localized at sites of recurring chromosomal rearrangements. One chapter deals with cytogenetic data in correlation to findings of DNA recombination studies in Hodgkin's disease.

Chromosome Aberrations↗
PubMed1986

Cytogenetic investigations in Hodgkin's disease: I. Involvement of specific chromosomes in marker formation.

Cytogenetic studies were performed in five Hodgkin-derived permanently growing cell lines, as well as in bone marrow cells from two Hodgkin patients, one of which suffering from acute myeloid leukemia after Hodgkin's disease. No consistent and common marker chromosome was found, but certain chromosome regions seemed to be nonrandomly involved in marker formation. These are chromosome bands 7q22, 7q32, 7q36, 2q33, 1p22, 11q21/23, 14q32, 15p12, and 21q21. The importance and significance of these chromosomal findings are discussed in reference to data from the literature.

Chromosome Aberrations↗
PubMed1985

Cytogenetic markers in hematoproliferative disorders.

In the last decade the improvement of methods of chromosome analysis has allowed new insights into the correlation of specific chromosome changes and certain types of malignant hematologic disorders. Even if a clear-cut correlation between a certain chromosomal marker and a certain malignancy is the exception, it is well established that specific chromosome aberrations occur nonrandomly in specific tumors. Moreover, it has been shown that so-called cellular oncogenes are located on those chromosome regions which are involved in translocations and other structural chromosome abnormalities in particular malignant tumors. The significance of chromosome alterations in leukemias and lymphomas is illustrated by examples concerning well-established data, on the one hand, and findings which have still to be confirmed, on the other. This may demonstrate that human tumor cytogenetics are a dynamically and vigorously developing branch of cancer research.

Bone Marrow↗