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PubMed1987

Cytogenetic evaluation of fetal death: the role of amniocentesis.

Fetal death can be associated with chromosomal abnormalities. Because of the degree of tissue maceration and autolysis seen in stillborn fetuses, it is often impossible to successfully culture these tissues for cytogenetic studies. We performed genetic amniocentesis in four cases of fetal death and were successful in obtaining cytogenetic results in all four, whereas the culture of fetal tissues for cytogenetics was successful in only one case. Chromosomal abnormalities were found in three of the four cases, including two fetuses with Down's syndrome and one fetus with Turner's syndrome. Because of the importance of cytogenetic studies in most cases of fetal death, we recommend amniocentesis at the time of diagnosis rather than waiting for delivery of fetal tissues, when postmortem changes may make it impossible to successfully culture fetal cells.

Adult↗

PubMed1988

Relapse after allogeneic bone marrow transplantation for Philadelphia chromosome positive chronic myeloid leukemia: cytogenetic analysis of 24 patients.

One hundred patients with chronic myeloid leukemia (CML) submitted to bone marrow transplantation (BMT) were included in a cooperative cytogenetic study. Relapse (defined on the basis of hematological and cytogenetic findings) occurred in 24 (24%) patients at different intervals after BMT. In 18 of these patients (studied on average 3.3 times between BMT and relapse) no Ph-positive metaphases were detected before relapse. Sixteen (75%) of the patients relapsed with the same chromosomal pattern as that seen before BMT; eight patients, of whom five relapsed in blast crisis, showed additional chromosomal abnormalities resembling those seen in non-transplanted patients. One of these patients relapsed in cells of donor origin. After recognition of relapse, various hematological and cytogenetic patterns were observed. Four patients showed spontaneous reversion to normal (donor-type) chromosomes and hematology. Two other patients were followed for prolonged periods with hypercellular marrows with more than 50% Ph-positive cells but with normal peripheral blood values. The majority of patients proceeded to clinical relapse and required treatment with chemotherapy. We conclude that the isolated finding of a minority of Ph-positive metaphases after BMT should not be classified as relapse; for patients who do relapse, the sequence of cytogenetic and hematological events thereafter is variable.

Adolescent↗

PubMed1979

Cytogenetic abnormalities in patients with cutaneous T-cell lymphomas.

Cytogenetic studies were conducted in 36 patients with histologically confirmed cutaneous T-cell lymphomas at the National Cancer Institute-Veterans' Administration Medical Oncology Branch. Aneuploidy was observed in 17 (85%) of the 20 lymph nodes, 23 of the 36 peripheral bloods, and five of the 31 bone marros. Aneuploidy was frequently present even when tumor cells were not noted histologically. These findings indicate that cytogenetic studies can be very useful for the early detection of malignant cells even when only a few such neoplastic cells are encountered. In this study, the cytogenetic abnormalities found to be characteristic of the disease included extensive aneuploidy, with both numerical and structural aberrations, a wide range of heteroploidy, and a lack of clone formation until the terminal phase of the disease. The numerical changes most frequently involved chromosomes 8, 15, 11, 17, 21, and 10, and the chromosome most involved in structural aberrations was chromosome 1, followed by chromosomes 7, 14, 16, 6, and 9. Cytogenetic studies demonstrate that neoplasia in the cutaneous T-cell lymphomas commonly involves areas beyond the skin.

Aneuploidy↗

PubMed1985

Prenatal cytogenetic diagnosis: medical and social implications. Indications, acceptance by doctors and patients, impact and cost: a 10-year review.

Prenatal cytogenetic diagnosis has been in widespread use for a decade, and access to it has been determined by medical attitudes towards what constitutes "high risk", and by pragmatic questions about the logistics of delivering a new diagnostic test to as many couples as costs will allow. The most common indication - advanced maternal age - has led to different access criteria in various parts of Australia. Factors such as socioeconomic status, education, and religion affect the acceptance of prenatal cytogenetic diagnosis from the point of view both of patients and of the doctors who care for them. Cost-benefit analyses conducted elsewhere indicate that, in purely monetary terms, it is probable that prenatal cytogenetic diagnosis is cost-effective if offered to all couples in which the woman is over the age of 32 years. An assessment of the impact of prenatal cytogenetic diagnosis on the birth incidence of major chromosomal abnormalities, particularly Down's syndrome, indicates that the maximum reduction which might be achieved in current practice is 30%.

Abortion, Induced↗

PubMed1985

Prognostic information from cytogenetic analysis in chronic B-lymphocytic leukemia and leukemic immunocytoma.

Fifty-five patients with a clonal expansion of B lymphocytes in the peripheral blood were studied. According to the Kiel classification, 22 patients had chronic lymphocytic leukemia (CLL), 29 had immunocytoma (IC), two had prolymphocytic leukemia, and one had centrocytic lymphoma; one was not subclassified. Cytogenetic studies after B cell mitogen stimulation showed that six patients had an extra chromosome 12 as the sole abnormality. Another ten patients had an extra chromosome 12 together with other abnormalities. One patient had dup(12). Fifteen patients showed clonal aberrations without +12. Eleven patients showed only normal metaphases, and 12 patients were not evaluated cytogenetically. The cytogenetic subgroup pattern did not distinguish between CLL and IC patients. There was no significant difference between the CLL and IC groups as regards clinical findings and prognosis. However, the cytogenetic typing proved to be of prognostic significance. Increasing numbers of chromosomal aberrations within the cell clone were significantly associated with a poorer prognosis, ie, with impairment of survival (P = .04) and therapy-free survival (P less than 10(-4]. Patients with complex karyotypes (at least clonal aberrations) showed the poorest survival (P = .007). Patients with +12 required treatment earlier than patients with a normal karyotype (P = .01) and patients with karyotypic changes other than +12 (P = .006). These latter differences were even more pronounced when only IC patients were considered (P = .005 and P = .002, respectively). A multivariate analysis revealed that +12 was as strong an indicator of poor survival as advanced Rai or Binet stages and a stronger predictor of therapy-demanding disease.

Adult↗

PubMed1984

The use of cytogenetic monitoring in the workplace: a position paper of the American Industrial Health Council.

Although tests to determine cytogenetic effects can be used to identify workers who have been exposed to certain agents, uncertainties remain. Tests to determine cytogenetic effects have not gained wide acceptance for routine monitoring in the workplace because of questions concerning their general applicability to detect exposure to a wide variety of agents and because of the lack of data showing a correlation between cytogenetic effects as detected in humans and adverse health effects. Unless those issues are resolved, the measurement of cytogenetic effects for workplace monitoring purposes should be regarded as experimental and such measurement is not likely to become a routine workplace exposure monitoring technique.

Abnormalities, Drug-Induced↗

PubMed1984

[Clinical and cytogenetic staging of chronic myeloid leukemia. Philadelphia positive].

A cooperative study between clinical and cytogenetic steps in 44 patients with Ph'+ CGL is reported in order to verific the usefulness of the cytogenetic screening for the diagnosis and the right classification of the patients. The study of the clinical steps is carried out on the basis of the parameters suggested by Tura and coll.; in the one of the cytogenetic steps Sandberg classification modified by the Authors is adopted. In 40 cases the comparison shows a marrow correspondence between clinical and cytogenetic steps. In fact the overage survival in the classical true steps of the disease is almost the sance in the 1st and 2nd step. In the 3rd step the survival is strongly reduced meaning that the more chromosome alterations are observed the more survival is reduced.

Adolescent↗

PubMed1980

Dysmyelopoietic syndrome: sequential clinical and cytogenetic studies.

Clinical and cytogenetic studies were done on 8 patients with dysmyelopoietic syndrome: 6 of these patients had refractory anemia with an excess of blasts (RAEB), and 2 patients had chronic myelomonocytic leukemia (CMML) according to the French-American-British classification. The ages of these 8 patients (3 female and 5 male) ranged from 45 to 70 yr (median, 61.5 yr). Seven of the 8 patients died 3-86 mo (median, 11 mo) after the onset of symptoms of hemorrhage or infections. Cytogenetic studies of bone marrow cells with the Q-banding technique showed clonal karyotypic abnormalities in 7 of the 8 patients (87.5%). Five of the 7 chromosomally abnormal patients had very complex karyotypes; all 7 patients, however, had at least 1 of 4 specific changes: -5 (or 5Q-), -7, +8, and +21. Three of the 7 patients with abnormal karyotypes had had some exposure to potential mutagenic/carcinogenic agents. Five of the 7 patients had serial cytogenetic analyses, 4 of which showed evolution of the karyotype to further complexity; in 2 cases, this coincided with the evolution of the disease into acute leukemia. The median survival time of patients whose initial cytogenetic samples showed both normal and abnormal metaphases was more than twice that of patients who had only abnormal metaphases initially (12 mo versus 4.5 mo).

Aged↗

PubMed1980

Cytogenetic analysis of human tumor cells cloned in agar.

Cytogenetic analysis of human tumors is rapidly coming of age as a useful tool in the diagnosis and prognosis of cancer. With the use of chromosome-banding analysis, an increasing display of tumors containing cytologically recognizable nonrandom chromosome change is accumulating. Additionally, with avenues of assessing drug resistance and sensitivity, current cytogenetic analyses are yielding clinically relevant information. Finally, the blending of cytogenetics with biochemistry and cell biology is yielding an impressive array of research tools for the subcellular study of cancer. DNA hybridization, gene cloning, autoradiography of various drug and hormonal chromosomal binding sites, gene mapping, and numerous other related techniques are providing fresh insights into the genetic basis of cancer. It seems clear that during the next decade substantial progress in understanding chromosome structure and function in normal cells as well as tumor cells will occur. Technical advances in the methodology for growing and harvesting tumor cells for detailed cytogenetic analysis will undoubtedly be important in this effort. Application of the described soft agar colony technique may provide a useful tool for study of the genetics of human solid tumors.

Agar↗

PubMed1994

Cytogenetic abnormalities in childhood acute lymphoblastic leukaemia.

A retrospective study of 50 children newly diagnosed with acute lymphoblastic leukaemia (ALL) from December 1988 to November 1993 was carried out, examining the disease conditions and cytogenetic abnormalities. Of the 50 children, 8 had no cytogenetic examination of the marrow at the time of diagnosis and 7 had a poor yield from the marrow. Fifty percent of the remaining children had a normal karyotype. The rest of the children had hyperdiploidy and structural chromosomal abnormalities (mainly translocation and deletions) in equal proportions. Overall mortality of the whole group was about 26% with 2 lost to follow-up. There were 2 patients who relapsed while on treatment of whom 1 died. Cytogenetic abnormalities were correlated with clinical variables known to have prognostic significance. The group with hyperdiploidy had a significantly lower mean total white count at presentation and none of them died. The group with translocation abnormalities had a lower mean platelet count at presentation. Almost all in the group with hyperdiploidy and a great majority of the other 2 groups with normal or structural cytogenetic abnormalities were of B cell lineage. The median survival times for the hyperdiploid, normal karyotype and translocation patients were 1800 days, 1450 days and 700 days respectively.

Burkitt Lymphoma↗

PubMed1995

Recurrent cytogenetic aberrations in human ovarian carcinomas.

Successful cytogenetic analysis was performed on short-term cultures of 62 malignant ovarian tumors from 42 patients. Twenty-three tumors from 18 patients revealed clonal chromosome abnormalities. Five cases showed nonclonal chromosome changes. In the remaining 19 cases, a normal female karyotype was found. Numerical or single structural changes were found in only 11 carcinomas from nine patients. Trisomy 12 and 7 were each the sole abnormality in two cases a piece. One tumor showed a trisomy 6 as the only karyotypic change. Four tumors revealed simple translocations and deletions affecting the chromosomes X, 1, 2, 6, and 7. Twelve of the cytogenetically abnormal tumor samples showed complex karyotypes with both numerical and structural aberrations leading to hyperdiploid, near-triploid, and near-tetraploid stemlines. The recurrent numerical imbalances were losses of the chromosomes 1 (N = 5), X (N = 3), and 17 (N = 3), and gains of the chromosomes 12 (N = 5) and 20 (N = 3). Regarding structural rearrangements, the chromosome bands 11p13-14 and 19p13 were the most frequently affected regions. 11p13-14 was rearranged in four tumors. In two cases, a deletion 11p13-14 was found. Two tumors revealed a nonreciprocal translocation involving 11p13-14 and leading to the loss of distal 11p material. The most consistent finding was a 19p+ marker chromosome, which was present in five different ovarian carcinomas. Our results are in accordance with a recent cytogenetic report describing a 19p+ marker and loss of 11p material as consistent cytogenetic aberrations in human ovarian carcinomas.

Adenocarcinoma↗

PubMed1995

The chromosome pattern of embryos derived from tripronuclear zygotes studied by cytogenetic analysis and fluorescence in situ hybridization.

OBJECTIVE: To detect the chromosomal complement of embryos, which developed from tripronuclear zygote, using nonradioactive centromeric probes. DESIGN: The chromosome pattern of embryos developing from tripronuclear zygote, studied by fluorescence in situ hybridization, was compared with that of embryos studied by standard cytogenetic methods. SETTING: These embryos were obtained from superovulated patients undergoing IVF treatment. RESULTS: We have attempted to examine the chromosomal complement of 72 embryos derived from tripronuclear zygotes using both traditional cytogenetic analysis and fluorescence in situ hybridization. Of these 72 embryos, 22 were analyzed with fluorescence in situ hybridization and 50 were analyzed with traditional cytogenetic analysis. For fluorescence in situ hybridization analysis, probes specific for the centromeric regions of chromosomes 1, 16, and X were used, with results being obtained from 18 embryos. One embryo was haploid (5.6%), five were triploid (27.8%), and one was hexaploid (5.6%). Eleven (61%) embryos were mosaic. Traditional cytogenetic analysis could be performed on 25 of 50 embryos. Five (20%) were haploid, one (4%) was diploid, seven (28%) were triploid, one (4%) were tetraploid, and two were hexaploid. Nine (36%) were mosaic. CONCLUSION: These findings indicate that not all tripronuclear human zygotes develop into triploid embryos. This study also demonstrates the usefulness of fluorescence in situ hybridization for preimplantation diagnosis and screening for chromosome abnormalities.

Cell Nucleus↗

PubMed1995

Certain HLA antigens are associated with specific morphologic and cytogenetic subsets of acute myeloid leukemia.

Although many associations have been found between specific HLA antigens and an increased susceptibility to various diseases, previous attempts to associate class I and II antigens with acute myeloid leukemia (AML) have been inconclusive, probably due in part to the heterogeneity of AML. We subdivided 165 consecutive adults with AML de novo into distinct clinical, morphological, and cytogenetic subsets and then tested for statistically significant associations with specific HLA antigens. Both morphology and cytogenetic pattern identified subsets of patients with important clinical features and different outcomes. Ten statistically significant (P < 0.05) HLA cytogenetic associations were observed: HLA-A11 with t(8;21), A26 with t(15;17), B7 with 11q23 abnormalities, B44 with +8, Cw2 with -20/del(20q), DR3 with t(15;17) and FAB-M3, DR4 with inv(16) and FAB-M4Eo, DQ2 with +8, and DQ6 with +22. HLA-DQ1 had a negative association with -5/del(5q), which was present in 13% of the 165 AML patients overall but in none of the 27 with DQ1. Certain HLA antigens were significantly correlated with more favorable remission rates, remission duration and survival. Possible mechanisms for the association of HLA antigens with particular subtypes of AML include the linkage or co-inheritance of an oncogene, the facilitation of binding of a transforming virus, toxin, or cytokine, or a permissive role involving impaired immune recognition of an emerging neoplasm. Given the heterogeneity of both the HLA system of immune recognition genes and the cytogenetic subtypes of AML, however, larger numbers of patients must be studied to have confidence that biologically important relationships truly exist.

Acute Disease↗

PubMed1993

[Detection of translocation (15;17) using cytogenetic and molecular techniques. Comparative study in 15 patients with acute promyelocytic leukemia].

PURPOSES: To analyze the reproducibility to detect the t (15; 17) with molecular and cytogenetic techniques. PATIENTS AND METHODS: Fifteen cases of acute promyelocytic leukaemia were studied by means of cytogenetic techniques (GTG banding) and molecular ones (K/S probe and HindIII, EcoRI and BamHI restriction enzymes). RESULTS: The t (15; 17) was detected with cytogenetic techniques in 60% cases and with molecular ones in 33% cases. Using both (cytogenetic and molecular) techniques the translocation was detected in 73% cases. CONCLUSIONS: The use of both techniques may be very useful in order to get a better diagnostic and a closer control of the patient's clinical evolution.

Chromosome Banding↗

PubMed1994

[Cytogenetic findings in patients with primary myelodysplastic syndrome and their prognostic significance. (Analysis of results in 65 patients)].

Cytogenetic examination of 65 patients with primary MDS revealed cytogenetic changes in 39 (60%) of the patients. The most frequently affected chromosomes were chromosomes 5, 7, 11, 17 and 20. Deletion of 5q only found in 9 (23%) of the patients with chromosomal changes occurred similarly as simple chromosomal changes most frequently in the prognostically more favourable group MDS-RA. Prognostically adverse monosomy of chromosome 7 was found in 3 patients in group RAEB and RAEB-t but only as part of complex chromosomal changes. The latter were encountered most frequently in patients of groups RAEB and RAEB-t, similarly as trisomy of chromosome 8. Patients in these groups had also a significantly shorter survival time (RAEB 17.7 and RAEB-t 14.2 months) than patients in group MDS-RA (31.5 months). Evaluation of survival according to Kaplan-Meyer's curve revealed significantly longer survival of patients without cytogenetic changes. Laboratory, cytogenetic and clinical findings in four patients with CMML differed from findings of the remaining patients with MDS. This supports the view that this sub-group is rather a myoproliferative conditions than MDS. Transformation to AL was proved in 19 patients. 14 of them (74%) had a chromosomal change at the time of diagnosis.

Adolescent↗

PubMedDate not supplied

[Results of cytogenetic examination of participants in the decontamination after the accident at the Chernobyl nuclear power station, 5 years later].

Results of the cytogenetic investigation on the Chernobyl accident decontamination participants, 5 years after the accident, have been disclosed. Cytogenetic analysis was performed on circulating blood lymphocytes, using a standard cultivation technique. Differences were detected between control group and decontamination participants on frequency of aberrant cells and aberrations of chromosome type in peripheral blood lymphocytes. Maximal cytogenetic effect on this data was detected in persons, who had worked between May and August 1986. On the base of cytogenetic investigation data, the authors proposed to form high-risk groups, including oncologic risk groups, which need a profound dynamic investigation.

Accidents↗

PubMed1993

[Interphase cytogenetics--a new technique for analysis of acquired genetic changes in tumor cells].

Newer genetic investigations of solid tumours by means of in situ hybridization (ISH) is reviewed. In situ hybridization, ISH, is a relatively new molecular biological method which can be used as a supplement to analysis of chromosome aberrations in tumour cells. Labelled DNA or RNA sequences (probes) are bound to specific sequences on cell chromosomes. After hybridization, the complementary sequences of the probe can be visualized and observed in a microscope. In contrast to classical cytogenetics where the chromosomes are studied in the mitosis, ISH can also be carried out on non-mitotic cells. The term "interphase cytogenetics" refers to this application of ISH, which can demonstrate the distribution of cells with different genotype without previous cell culturing. Interphase cytogenetics has been used for the analysis of several different tumour types where it gives fast and reliable information about specific cytogenetic aberrations in tumour cells. It is to be anticipated that this laboratory technique will be employed increasingly in the diagnosis and follow-up of certain malignancies.

Chromosome Aberrations↗

PubMed1993

Cytogenetic and ploidy analysis of prostatic adenocarcinoma.

The cytogenetic evaluation of prostatic adenocarcinoma has shown no consistent cytogenetic abnormalities. Despite manipulation of culture conditions, the majority of low-stage, untreated prostatic adenocarcinomas show a normal karyotype. We have performed cytogenetic analysis on eight primary prostate adenocarcinomas, using several control measures to increase the probability that any normal karyotype was derived from neoplastic cells rather than accompanying normal cells. Tumors were grown in media that encourages epithelial growth; DNA ploidy studies were performed before and after tissue culture; and immunohistochemical confirmation of the prostatic and epithelial nature of the cells was done following culture. Percentage of tumor on tissue sections adjacent to those submitted for culture was > 75% in all cases. Seven of eight cases were evaluable, and six cases showed no clonal abnormalities and were diploid. One tumor showed a population of tetraploid cells, without structural abnormalities. Three additional tumors showed evidence of tetraploidy by DNA analysis. One case showed nonclonal marker chromosomes and was aneuploid. This patient was pathologic Stage D. We conclude that the majority of prostatic adenocarcinomas at their inception may not show routinely detectable cytogenetic abnormalities. However, tetraploidy may play a role in the evolution of prostatic adenocarcinoma.

Adenocarcinoma↗