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PubMed1982

Age of ascertainment: an index of relative severity of cytogenetic conditions.

Different cytogenetic conditions which may produce the same phenotype can be defined as phenotypically homologous. Such conditions may differ in their mean severity. It is suggested here that the age of ascertainment by cytogenetic laboratories of individuals with chromosomal abnormalities is a useful relative index of severity. Three nonmosaic cytogenetic conditions (47, + 21, 47, + 18, and 45, X) were compared with their respective mosaic homologues, using data reported by 38 laboratories participating in the New York State Chromosome Registry. For all three comparisons the mean age of ascertainment and the proportion ascertained in individuals older than 1 yr were greater for the mosaic than the nonmosaic homologues, consistent with the utility of this variable as an index of relative severity. A comparison was also undertaken between (nonmosaic) 45, X and (nonmosaic) 46, long-arm isochromosome-X forms of Turner's syndrome. Only 2% of the latter cases were ascertained under age 1 yr, compared to 25% of the former. The difference is consistent with lesser phenotypic severity of the isochromosome form of Turner's syndrome--a finding of which is independently suggested by a trend in collected heterogeneous case reports.

Adolescent↗

PubMed1978

Cytogenetic and dominant lethal studies on captan.

Possible mutagenic activity of captan was investigated by in vitro and in vivo cytogenetic studies and by the dominant lethal study in mice. In vitro cytogenetic study with cultured human diploid cells revealed a significant increase in the frequency of cells showing stickiness and a severe mitotic inhibition at concentrations of 3.0 and 4.0 microgram of captan per ml. although no chromosomal aberrations were observed. In in vivo cytogenetic study, no chromosomal aberrations were induced in the bone marrow cells of rats treated orally with captan at a single dose of 500, 1000 or 2000 mg/kg or at five consecutive doses of 200, 400 or 800 mg/kg/day. Dominant lethal study also failed to show any mutation induction after treatment of male mice with daily oral dose of 200 or 600 mg of captan per kg bw for five days.

Animals↗

PubMedDate not supplied

Cytogenetic effects of cyclophosphamide on human lymphocytes in vivo and in vitro.

A comparative study of cytogenetic effects in human lymphocytes caused in vivo by cyclophosphamide (CP) after intravenous injection and in vitro by exposure of plasma of the same patients was carried out. It was found that the frequency of induced chromosome aberrations (CA) and sister-chromatid exchanges (SCE) increased linearly for SCE and exponentially for CA within the 'dose' of alkylating activity of CP metabolites. Parameters of 'cytogenetic effect-dose' in vivo and in vitro coincided. The intensity of cytogenetic effects varied between individuals.

Chromosome Aberrations↗

PubMed1994

Cytogenetic analysis of lymphocytes from fiberglass-reinforced plastics workers occupationally exposed to styrene.

In this study a group of 52 workers employed in a plant manufacturing fiberglass-reinforced plastic (FRP) pipes and cisterns, and therefore daily exposed to styrene, were monitored. As a control group 24 non-exposed workers from another factory producing and repairing pallets volunteered to participate. The airborne styrene during the monitoring ranged from 2.2 to 110.1 mg/m3. As a metabolic marker for styrene exposure mandelic acid was measured in the urine and ranged from 11 to 649 mg/g creatinine. From 43 exposed and 15 control workers sister-chromatid exchanges (SCE) and high frequency cell (HFC) data and from 49 exposed and 23 control workers micronucleus (MN) data from peripheral lymphocytes are reported. Although the two groups of workers could clearly be distinguished on the basis of the airborne styrene concentrations and urinary mandelic acid concentrations no differences in any of the cytogenetic markers were found. Correlations between the cytogenetic data and the level of airborne styrene concentrations or urinary mandelic acid levels could also not be demonstrated. Otherwise, smoking increased the SCE frequency. Grouping the workers according to smoking habits showed a statistically significant difference in SCE. Moreover, levels of urinary thiocyanate (SCN), which can be used as a metabolic marker for smoking, showed a significant positive correlation with the number of SCE. This indicates that SCE is a sensitive biomarker and might still be useful in biomonitoring. However, only chronic exposures over a long period would probably be detectable. In this study, where exposure was rather low and the number of working years was small (mean of 2.9 years), cytogenetic effects are probably too low or rare to be detectable with any assay.

Adult↗

PubMed1996

Aflatoxin exposure and cytogenetic alterations in individuals from the Gambia, West Africa.

Aflatoxin-albumin adducts in peripheral blood provide a measure of exposure to aflatoxin over the previous 2-3 months. In the present study, the levels of these adducts were determined in a group of individuals from The Gambia, West Africa and were compared in a cross-sectional study to the levels of various cytogenetic alterations (chromosomal aberrations, micronuclei, sister chromatid exchanges) in the same individuals to test whether an increase in genetic damage is associated with an increased exposure in this population. Of 35 subjects tested for aflatoxin-albumin adducts, all but 3 were positive. There were no correlations between the adduct level and the number of cytogenetic abnormalities at the individual level. A comparison of the cytogenetic alterations was made between Gambian individuals and a group of 22 healthy people from Italy where aflatoxin exposure is expected to be low. The levels of structural chromosomal aberrations, sister chromatid exchanges and micronuclei were all higher in the former group. Overall, these data are indicative of a higher exposure to genotoxins in Gambian subjects, one of which are aflatoxins, but suggest that more specific genetic markers of aflatoxin exposure are required to further examine the link between aflatoxin exposure and genetic alterations.

Adolescent↗

PubMed1996

Cytogenetic damage measured in human sperm following cancer chemotherapy.

Germ-line cytogenetic damage is well documented in laboratory animals exposed to anti-cancer agents, but has been harder to verify in the human. This paper reviews published studies demonstrating cytogenetic damage in human sperm following exposure to anti-cancer chemicals, as measured by the human-sperm/ hamster-egg cytogenetic technique and fluorescence in situ hybridization. These two assays have provided important information on one step in the pathway leading to induced, transmissible germ line damage in the human. By way of introduction, a short review of the traditional human endpoints used to address the question of induced, transmissible genetic damage in human germ cells (mutation epidemiology) related to anti-cancer chemicals is presented.

Animals↗

PubMed1993

Molecular cytogenetics: applications in clinical genetics.

To illustrate the advantage of fluorescence in situ hybridization (FISH) in clinical genetics, we have chosen six clinical cases from our routine laboratory where we have used molecular cytogenic techniques to optimise the cytogenetic analysis. Using centromere-specific DNA probes and whole chromosome DNA libraries either obtained from somatic cell hybrids or generated from flow-sorted chromosomes, we have been able to identify small marker chromosomes, chromosomal duplications and inversions, to determine the ploidy in interphase nuclei, and to characterize subtle chromosomal translocations. We conclude that molecular cytogenetics is a valuable technique that should be used as a supplement to conventional cytogenetics to reduce the number of unresolved karyotypes in clinical genetics.

Adolescent↗

PubMed1987

Toward a clinically relevant cytogenetic classification of acute myelogenous leukemia.

Cytogenetic studies with Giemsa banding were performed on the bone marrow cells of 384 patients with acute myelogenous leukemia treated between 1975 and 1983. An abnormal karyotype was detected in 54% of patients, being present in 100% of metaphases (AA) in 31% and only a proportion of cells (AN) in 22%. Specific translocations or other abnormalities were noted in 22% of patients, the most common of which were t(8;21) (q22;q22) in 7%, t(15;17) (q22;q21) and inv (16) (p13q22) in 5.5%, t(9;22) (q34;q11) in 3% and abnormalities of 11q23 in 1.3%. Loss of the Y chromosome was noted in 21 patients, associated with t(8;21) in 11 patients and the sole abnormality in eight patients (45, X, -Y). Most (66%) of the other abnormalities involved addition of chromosome 8 or loss or deletion of 5 or 7 (+8, -5 or -7, 5q- or 7q- group). The remaining patients had miscellaneous abnormalities (MA). A marked assymetry was noted in the distribution of important clinical prognostic variables such as age, sex, history of an antecedent hematologic disorder and presence of Auer rods within the various cytogenetic categories. The specific translocation/abnormalities were more common in younger patients (p less than 0.01). Analysis of response, remission duration and survival demonstrated that inv 16 and t(8;21) were favorable prognostic categories; diploid, t(15;17) and 45,X,-Y had intermediate prognosis, and all other categories were unfavorable prognostic groups. The response rate and survival for diploid patients (NN) was superior to patients with abnormalities. No difference in response rate, CR duration or survival was noted between the AA and AN groups. A prognostic classification according to cytogenetic category based on clinical associations is proposed which will be tested prospectively in subsequent studies.

Adult↗

PubMed1992

Cytogenetic findings in primary and secondary MDS.

More than 1300 MDS cases with clonal cytogenetic abnormalities, 200 of them secondary MDS, have been reported. The most common aberrations in primary MDS are del(5q) (27%), trisomy 8 (19%), monosomy 7 (15%), der(11q) (7%), -5, der(12p) and -Y (5%), del(7q) (4%), and t(1;7), der(3q), del(13q), i(17q) and del(20q) in 2% or less. The 5q- is mostly, but not always, a del(5)(q13q33); it is the cytogenetic hall-mark of the "5q- syndrome" and is frequently found as the sole abnormality. The frequency of the aberrations varies among MDS subgroups: 5q- is most frequent in RA, -5, -7, and der(12p) are more common in CMML and especially in RAEB, and +8 and der(11q) are more often found in RARS. The most common aberrations in secondary MDS are -7 (41%), del(5q) (28%), -5 (11%), der(21q) (9%), 7q-, +8 and der(12p) (8%), t(1;7) and -12 (7%), der(17p) (6%), der(3p) and der(6p) (5%), and der(3q), der(11q), -17, -18 and der(19q) (4%). The average number of abnormalities per case is 5.3, compared with 2.9 in unspecified MDS. The frequency of cytogenetically unrelated clones is 5.7% in secondary and 4.3% in primary MDS. When the literature data are broken down by type of genotoxic exposure, it turns out that -5, -7, and der(17p) are over-represented in patients who have received chemotherapy, whereas 5q- is associated with no exposure or preceding radiotherapy only. The karyotypic profile is prognostically important: patients with -7 or complex karyotypes have a higher risk of progression to acute leukemia and shorter survival.

Chromosome Aberrations↗

PubMed1995

Cytogenetic response to asbestos fibers in cultured human primary mesothelial cells from 10 different donors.

The ability of amosite asbestos fibers to induce chromosomal aberrations in human primary mesothelial cells obtained from pleural effusions of 10 noncancerous patients was investigated. The glutathione S-transferase M1 (GSTM1) genotypes of the patients were determined, since the GSTM1 null genotype has been associated with increased susceptibility to lung cancer and chemically induced cytogenetic damage. Four of the patients represented the GSTM1 null genotype, and six the GSTM1 positive genotype. Successful chromosome aberration analyses were obtained from six cases, three of them with the GSTM1 null genotype. The level of aberrant cells in unexposed cultures ranged from 2.0% to 7.5%. Statistically significant increases (2.3-3.0-fold compared to controls) in the number of aberrant cells were observed in two cases only: in one case treated with 1 microgram/cm2 of amosite, and in another treated with 2 micrograms/cm2 of amosite. Cell cultures from four individuals showed minor or no increases in the numbers of aberrant cells in the doses tested (1 and 2 micrograms/cm2). Chromosome breaks were the major type of aberration. The amosite exposed cells with significantly increased aberrations were from patients with GSTM1 positive genotypes. Two cases that showed no cytogenetic response to asbestos fibers were of the GSTM1 null genotype. Thus, our results suggest that the lack of the GSTM1 gene does not render human mesothelial cells more susceptible to chromosomal damage induced by asbestos. GSTM1 null cells appeared, however, to be more sensitive to the growth inhibitory effects of asbestos than did GSTM1 positive cells. Variation in the cytogenetic response of human primary mesothelial cells to asbestos fibers was observed to exist, but the fibers do not appear to be potent inducers of structural chromosomal aberrations in these cells. It remains to be established whether individual sensitivity to asbestos fibers, due to specific genetic traits, exists.

Adult↗

PubMed1983

In vivo cytogenetic study in rats maintained for eight days on diets containing probucol.

Probucol (4,4'-(isopropylidenedithio)bis(2,6-di-t-butylphenol], a cholesterol-lowering drug, was evaluated for cytogenetic toxicity in the bone-marrow cells of Sprague-Dawley rats. Male and female rats were fed diets containing 0, 200, 400, or 800 mg/kg body weight/day for 8 consecutive days. Animals treated with trimethylphosphate served as positive controls. Femoral bone-marrow specimens were aspirated from all animals for cytogenetic evaluation. Analysis of the data generated by this study indicated that the incidence of cytogenetic aberrations in the bone marrow of rats was not affected by administration of probucol within the present treatment regimen.

Administration, Oral↗

PubMed1984

Clinical significance of cytogenetic findings in untreated patients with B-cell chronic lymphocytic leukemia.

The chromosome constitutions of stimulated lymphocytes in 21 untreated cases with B-cell chronic lymphocytic leukemia (B-CLL) were examined. So-called polyclonal B-cell activators, i.e., pokeweed mitogen, Epstein-Barr virus, and lipopolysaccharide W from E. coli 055:B5, were used. Four out of 21 cases showed abnormal clones with trisomy 12 and were started on therapy shortly after the diagnosis and cytogenetic examination. On the other hand, most cases without abnormal clones had not received treatment for relatively long periods before and after cytogenetic examination. These findings may indicate that cytogenetic results can be utilized as a parameter for treatment and prognosis in B-CLL.

Aged↗

PubMed1985

The significance of cytogenetic findings of erythroid colonies derived from a Ph+ ALL patient: fundamental differences between Ph+ ALL and blastic phase CML.

Cytogenetic analysis was performed on colonies from erythroid burst-forming units (BFU-E) derived from bone marrow (BM) cells of a Ph-positive acute lymphocytic leukemia (Ph+ ALL) patient. A normal diploid karyotype was revealed in all 15 metaphases that could be analyzed in the erythroid colonies. Previous cytogenetic analyses of erythroid colonies obtained from BM cells of patients with Ph+ chronic myelogenous leukemia (CML) revealed that Ph-positive karyotypes were predominant in all 11 cases. Two of them were also examined in blastic phase (BP) and showed 100% Ph+ cells in BFU-E-derived colonies. The present findings suggest that the leukemic process of Ph+ ALL does not involve the erythroid series, which is in contrast to the involvement in CML. This is considered to be a fundamental difference between Ph+ ALL and the blastic phase of CML (BP CML). Clinically, cytogenetic analysis of erythroid colonies from BM cells may constitute a valuable approach for the differential diagnosis between Ph+ ALL and the BP of Ph+ CML.

Bone Marrow↗

PubMed1985

A cytogenetic study of Wilms' tumor.

Cytogenetic studies were attempted on a sample of 33 Wilms' tumors using short- and long-term tissue culture techniques; most were studied after 2-13 wk in vitro. Abnormal karyotypes were found in 11 tumors, 10 of which had been treated previously with radiotherapy and/or chemotherapy. Insufficient growth of 17 tumors prevented cytogenetic analysis, and in 5 only normal karyotypes were found. Of the 11 tumors with abnormalities, 9 had modes within the diploid range, 1 was hypertriploid, and 1 showed hypodiploid variation. Except for chromosome #5, all chromosomes were involved in structural and numeric changes. Three tumors showed variation in the short arm of chromosome #11, and abnormalities of chromosomes #1, #3, #7, #9, #10, and #14 occurred in more than one tumor. A predisposition to Wilms' tumor is associated with a constitutional deletion of 11p13. From the present study, it is apparent that a similar cytogenetic change may play a primary role in the development of Wilms' tumor in normal individuals.

Cells, Cultured↗

PubMed1986

Cytogenetic studies in 18 patients with secondary blood disorders.

Cytogenetic studies were carried out in 18 patients with secondary blood diseases; 15 patients had a history of prior malignancy, two had been professionally exposed to carcinogenic agents, and one patient had been treated with immunodepressors. The interval between initial therapy and secondary disease ranged from 13 to 123 months, with a mean of 57.8 months; the mean survival time from the diagnosis of secondary disease was 6 months. Cytogenetic abnormalities were present in 83% of cases, with a trend to hypodiploidy in 90%. The most often involved chromosomes were #5, #7, and 3p. A correlation between the cytogenetic abnormalities and etiologic factors has been analyzed; data from the present series and from the literature suggest a correlation between chromosome #7 and chemical agents, and chromosomes #11, #12, and #17 and physical agents.

Acute Disease↗

PubMed1986

Cytogenetics and bone marrow transplantation.

The authors report hematologic and cytogenetic data on 19 patients treated with allogeneic bone marrow transplantation (BMT) for severe hematologic disorders: 8 patients with chronic myelogenous leukemia, 6 with acute leukemia, 3 with severe aplastic anemia, 1 with refractory anemia, and 1 with beta-thalassemia major. Cytogenetic assays were performed on marrow cells before conditioning, 30 days after BMT, and at subsequent times. The authors discuss the role of cytogenetic studies in the evaluation of bone marrow engraftment, leukemic transformation of the graft, and disease relapse.

Acute Disease↗

PubMed1986

Involvement of eosinophils in leukemia: cytogenetic study of eosinophilic colonies from acute myelogenous leukemia associated with translocation (8;21).

We performed a cytogenetic analysis of eosinophilic colonies grown from bone marrow culture of a patient with acute myelogenous leukemia (FAB-M2) associated with t(8;21). The bone marrow, in which 50.2% myeloblasts and 5.6% eosinophils were observed, gave rise to eosinophilic colonies, as well as colonies consisting of immature myeloid cells. The cytogenetic analyses of the colonies were performed on two occasions. The first study revealed t(8;21) in 15 of 16 metaphases in randomly plucked colonies from a dish, in which 65% of the total colonies were those consisting of immature myeloid cells and 35% were eosinophilic colonies identified by positive staining with Luxol-Fast-Blue. The second study, in which eosinophilic colonies were selectively plucked for cytogenetic analysis, showed Cq- and Gq+ markers, which were considered to be t(8;21), in all metaphases (6/6). Our present study strongly suggests that an involvement of the eosinophilic series in the leukemic process of this patient.

Bone Marrow↗

PubMed1987

Possible cytogenetic marker associated with myelofibrosis in chronic granulocytic leukemia and its prognostic significance.

An association between myelofibrosis (MF) and chronic granulocytic leukemia (CGL) has been recognized. MF is usually a sign of a poor prognosis but its relation to other important parameters of CGL is not known. We observed a 54-year-old, white male patient who was well until May 1983 when he began developing gradually increasing right hip and left shoulder pain. Clinical evaluation 3 months later revealed splenomegaly and a white blood count of 126,000 with 29 segmented neutrophils, 22 bands, 7 metamyelocytes, 11 myelocytes, 6 promyelocytes, 5 blasts, 2 eosinophils, 5 basophils, and 3 lymphocytes. Cytogenetic analysis by G-banding technique showed a male karyotype with all 20 bone marrow cells examined positive for the Philadelphia chromosome. The patient was placed on busulfan therapy with good symptomatic improvement, but later suffered severe thrombocytopenia. At the end of October 1983, he was admitted with blast crisis and thrombocytopenia and was initiated on vincristine and cytosine arabinoside therapy. His bone marrow was repeatedly inaspirable and the biopsy was characterized by diffuse fibrosis. Chromosome analysis of 16 spontaneously dividing cells in the blood at this time revealed that 86% of cells had a karyotype of 46,XY,t(9;22)(q34;q11),t(1;3)(p32;p21) with the rest of the cells having only the Ph chromosome. The patient died 4 months later of intracranial hemorrhage. Chromosome #3 involvement has been reported in acute MF and essential thrombocytosis, but no specific cytogenetic abnormalities have been found in MF associated with CGL. It is unclear whether t(1;3) in this case represents a cytogenetic marker of MF or blast transformation, but it is certainly associated with poor prognosis and short survival.

Blast Crisis↗