Biomedical subjects

S Heim

Publications and source records attributed to S Heim.

At least 325 records · Page 18Linked to original sources

PubMed1987

Relationship between cytogenetic findings and histopathology in non-Hodgkin lymphoma.

The cytogenetic findings in 70 patients with non-Hodgkin lymphoma have been correlated with tumor histopathology according to the Kiel classification. Certain chromosome aberrations displayed a nonrandom association with the grade of malignancy: 4 lymphomas out of 6 with 1p+, 5 out of 7 with del(6)(q15), 7 out of 11 with 14q+, and 5 out of 8 with +18 belonged to the high grade malignancy group, whereas 9 lymphomas out of 10 with t(14;18) were low grade malignant. Two aberration types were closely associated with specific histopathologic subtypes: t(14;18) occurred in 7 cases out of 10 in centroblastic/centrocytic (cb/cc) follicular lymphomas, and 5 cases out of 6 with i(17q) were cb or cb/cc. Although less striking, there was a tendency for del(6)(q15) to occur in cb or cb/cc lymphomas (4 cases out of 7), in contrast to only 1 case out of 5 with the more distal deletion del(6)(q21).

Adolescent↗

PubMed1987

Cytogenetic studies in Hodgkin's disease.

Cytogenetic analysis was attempted in 20 patients with Hodgkin's disease. No mitoses were found in 2 cases, normal metaphases in 7, and normal metaphases with nonclonal aberrations in 7. Of the 4 cases with clonal aberrations, one had +16 as the sole change, whereas the remaining tumors had multiple numerical and structural changes.

Adolescent↗

PubMed1987

New structural chromosomal rearrangements in congenital leukemia.

The karyotypic abnormalities and clinical data on three patients in whom acute leukemia was diagnosed within the first 6 months of life are presented. The four structural chromosomal rearrangements detected in the bone marrow from these patients, i.e., t(7;12)(q36;p13) and t(1;19)(q11;q11) in case 1, t(2;10;11;12)(q21q31;p13;q13;q24) in case 2, and t(11;19)(q23;p13) in case 3, have not previously been associated with congenital leukemia. Acquired chromosomal changes have until now been reported in only 31 leukemic infants in this age group. Of the total material, 18 patients had acute lymphoblastic leukemia and 16 had acute nonlymphocytic leukemia. The by far most frequently recorded cytogenetic aberration has been t(4q;11q), seen in 14 cases of lymphoblastic leukemia. Although t(4q;11q) has not been found in a single patient with acute nonlymphocytic leukemia, these leukemias have often had other rearrangements involving the same region of 11q. Hence, genetic material around 4q21 may be active in lymphocytic differentiation, whereas gene(s) in 11q23 may be important in the neoplastic process in a less cell-type specific manner and perhaps particularly vulnerable to neoplastic rearrangement in fetal life. The finding of four cases out of 34 with translocations between 11q23 and chromosome 19 indicates that this rearrangement might characterize a specific cytogenetic subgroup of leukemia in the very young.

Acute Disease↗

PubMed1986

Structural chromosome aberrations in a case of angioleiomyoma.

Chromosome analysis of cells from an angioleiomyoma revealed the karyotype 46,XX,del(6)(p21p23),del(21)(q21)/46,XX. The possible importance of these structural derangements is discussed within the framework of current knowledge on chromosome aberrations in benign neoplasms.

Adult↗

PubMed1986

Evidence of phosphorylated phosphatidylinositols in the growth cycle of suspension cultured plant cells.

Suspension cultured cells of Catharanthus roseus rapidly consume the inorganic phosphate of the medium and incorporate about 25% of it into their phospholipids. By three different methods of analysis it was shown that from these plant cells phosphorylated phosphatidylinositol species can be extracted; the mono- and diphosphorylated species were detected in amounts of about 7 and 1%, respectively, of the phosphatidylinositol fraction. Autoradiography of 32P-labeled phospholipids showed that especially the amount of diphosphorylated species varies with the growth cycle of the suspension culture indicating that also in the higher plant cell this phospholipid turnover may play a role in the regulation of proliferation.

Autoradiography↗

PubMed1986

Reciprocal translocation t(3;12)(q27;q13) in lipoma.

A reciprocal translocation, t(3;12)(q27;q13), was found as the sole karyotypic abnormality in an intramuscular lipoma. The morphology of the derivative 3q+ was strongly reminiscent of the large ring marker we have previously described in three other lipomas, indicating a pathway through which the rings may have arisen. These data, combined with the previous preliminary report by Turc-Carel et al. of a similar t(3;12) in another lipoma strongly suggest that this rearrangement may be a characteristic cytogenetic marker in benign lipogenic tumors.

Chromosomes, Human, Pair 12↗

PubMed1986

Secondary chromosome aberrations in the acute leukemias.

Information was retrieved from a computer-based data bank about additional chromosome aberrations in patients with acute lymphatic or nonlymphatic leukemia (ALL or ANLL) and one of the following primary rearrangements: In ALL t(9;22), t(11;14), t(1;19), t(4;11), t(8;14), and del(6q); in ANLL t(9;22), t(6;9), t(8;21), t(15;17), t(9;11), inv(16), and del(20q). The distribution of secondary changes was nonrandom. Chromosomes #1, #7, #8, and #9 were frequently involved in both disease groups, albeit with some pointed differences regarding the types of rearrangements making up the majority of aberrations. Chromosome #6 was clearly more affected in ALL, whereas, loss of a sex chromosome was largely restricted to ANLL patients. Differences between specific subtypes were detectable in both ALL and ANLL. Sex chromosome loss occurred almost exclusively in patients with t(8;21), who also tended to have del(9q) and/or trisomy 8. On the other hand, patients with t(15;17) often had del(7q) or monosomy 7, trisomy 8, and del (9q) as part of their karyotypes. None of the patients with inv(16) had del(9q). Instead, structural aberrations of chromosomes #7, #16, and #19 were fairly numerous in this subgroup, as was trisomy 8. Structural changes of #1, particularly translocations and duplications, were especially frequent in ALL patients with primary rearrangements t(8;14) or del(6q). In both ALL and ANLL, patients with t(9;22) had similar additional changes, often +8, -7, and/or +Ph. The findings indicate that the initial cytogenetic change is an important factor in determining the nature of subsequent chromosomal abnormalities developing in the malignant clone.

Acute Disease↗

PubMed1986

High resolution banding analysis of the reciprocal translocation t(6;9) in acute nonlymphocytic leukemia.

The cytogenetic, hematologic, and clinical characteristics of a 13-year-old girl with acquired t(6;9)(p23;q34) and dysmyelopoietic syndrome developing into acute myelomonocytic leukemia are described, bringing the total number of patients with t(6;9) and hematologic disease described in the literature up to 19. The diagnosis has been acute myeloid leukemia in the great majority of these patients; only four have had acute myelomonocytic leukemia. High resolution analysis at the 550 band stage localized the breakpoints in chromosomes #6 and #9 to p23 and 9q34.3, respectively. Previous investigations employing high resolution cytogenetics have mapped the typical 9q breakage site in chronic myeloid leukemia to 9q34.1. In situ hybridization studies have demonstrated that the cellular oncogene c-abl remains on the derivative 9q+ chromosome in t(6;9), whereas it is moved to the Ph marker in t(9;22). Thus, the combined data indicate that c-abl is located between 9q34.1 and 9q34.3, i.e., in subband 9q34.2 or its immediate vicinity.

Acute Disease↗

PubMed1986

High resolution chromosome analysis of constitutional and acquired t(15;17) maps c-erbA to subband 17q11.2.

High resolution chromosome analysis was performed on bone marrow cells from four patients with acute promyelocytic leukemia and t(15;17), and in lymphocytes from two unrelated, phenotypically normal persons with an apparently identical constitutional translocation. Scrutiny of prophase-prometaphase chromosomes localized the breakpoints in all six cases to subbands 15q22.3 and 17q11.2. Molecular genetic studies have localized the oncogene c-erbA to chromosome #17 between the breakpoints of the constitutional and the acquired anomaly. The present results, therefore, map c-erbA to subband 17q11.2.

Chromosome Aberrations↗

PubMed1986

Numerical chromosome aberrations in human neoplasia.

Cases with a simple gain or loss of one chromosome as the sole cytogenetic change were retrieved from a computerized registry of chromosome aberrations in human neoplasms. Of the total of 5345 cases in the data bank, 610 met the criteria. The distribution of both simple gains (349 cases) and simple losses (261 cases) throughout the genome was distinctly nonrandom. Chromosomes #8, #9, #12, and #21 were more often trisomic, whereas, chromosomes #7, #22, and Y were the ones most often lost. The frequency of simple aberrations varied widely in different diseases: 29.6% in chronic lymphocytic leukemia, 24.2% in meningioma, 16.9% in polycythemia vera, 8.1% in acute nonlymphocytic leukemia, 4.2% in acute lymphocytic leukemia, and 1.4% in non-Hodgkin non-Burkitt lymphoma. The numerical changes have been correlated and compared with the specific structural rearrangements in cancer, and tentative pathogenetic mechanisms whereby numerical aberrations might enhance neoplastic development are discussed.

Aneuploidy↗

PubMed1986

Reciprocal translocation (11;19)(q23;p13) in congenital acute lymphoblastic leukemia.

The cytogenetic, clinical, and immunologic findings ina 4-month-old girl with acute lymphoblastic leukemia (ALL) are reported. The malignant lymphoblasts were characterized cytogenetically by the reciprocal translocation t(11;19)(q23;p13); immunologically by an immature pre-B-ALL phenotype. In spite of the high-risk nature of the leukemia, the patient attained complete remission relatively quickly and is still free of disease 3 years after diagnosis. Because the only two previously reported ALL patients with t(11;19) also seem to have responded well to therapy, this cytogenetic abnormality might turn out to be an indicator of favorable prognosis in ALL.

Chromosome Banding↗

PubMed1986

Multiple cytogenetic abnormalities in a case of osteosarcoma.

Cytogenetic analysis of a highly malignant osteosarcoma in a 17-year-old girl revealed extremely complex karyotypic changes with several different clonal numerical and structural chromosome aberrations. The composite karyotype was interpreted as 39-41,X,t(X;9)(q11;p24), -1,der(1), -4, -4, -5,i(7q),-8,del(8)(q21),t(10;19)(p13;q13),del(11)(p11p13), t(12;18)(q24;q12), -13,13q+,-14,14p+,-15,15q+,17p+,19q+,-21,+22,+3-6 mar.

Adolescent↗

PubMed1986

Lower rates of thymidine incorporation into DNA of skin fibroblasts from patients with adenomatosis of the colon and rectum.

Thymidine incorporation into DNA was examined in confluent fibroblast cultures which had been further arrested by 7-9 days' growth on 0.5% serum-supplemented medium. There were 13 fibroblast lines from patients with adenomatosis of the colon and rectum (ACR) and seven control fibroblast strains from unaffected relatives and spouses of ACR patients. After 24 h an ACR fibroblast strain showed a decreased rate of unscheduled DNA synthesis (UDS), whereas no such effects were observed with the control fibroblast strain. It was shown that the difference in UDS rates between control and ACR fibroblast strains was not due to [3H]-dThd catabolism and/or disappearance in the culture medium after a 34-h labelling period. When the percent increases in N-acetoxy-2-acetylaminofluorene (NA-AAF)-induced UDS and in [3H]-dThd incorporation in the presence of 10 mM hydroxyurea were compared between 24 h and 34 h incubation, the 13 ACR fibroblast lines were significantly lower compared to the corresponding values calculated for the seven control fibroblast strains. The ACR fibroblasts also had significantly elevated levels of spontaneous chromosome aberrations compared to controls. Furthermore, the percent increase in NA-AAF-induced UDS was negatively correlated with the level of spontaneous chromosome aberrations. These data suggest that there is a genetic instability in the cells from ACR patients that can be estimated by both UDS and cytogenetic analyses.

Acetoxyacetylaminofluorene↗

PubMed1986