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PubMed2000

Delayed recurrence of hepatocellular carcinoma after liver transplantation: detection of origin by chromosomal analysis.

We report on a 41-year-old man undergoing liver transplantation for chronic hepatitis C who presented 26 months later with hepatocellular carcinoma. No evidence of hepatocellular carcinoma could be found in the native liver, although features of small cell dysplasia were prominent. Although he had recurrent hepatitis C, the transplanted liver was not cirrhotic. Chromosomal analysis was used to resolve whether this was a de novo tumor or a recurrence of an unsuspected tumor present at the time of transplantation. This male patient had received a liver from a female donor, and in situ hybridization for the Y chromosome showed reactivity in the tumor but not in surrounding nontumorous liver. Thus, this is an example of the use of chromosomal analysis to resolve the origin of a tumor occurring in the transplant setting.

Adult↗

PubMedDate not supplied

Cytologic diagnosis and chromosome analysis: sensitivity, specificity, accuracy and predictive value in malignant and benign pleural effusions.

It is often difficult to determine the origin a pleural effusion even if it is very important for prognosis of a patient. We have studied No. 200 patients, affected with nontraumatic effusions, using cytogenetic technics and cytologic examination. Cytologic diagnosis of pleural effusions allows to detect correctly its malignant nature in a percentage of cases ranging, according to various Authors, between 45 and 80%. The main parameters we have considered in our study, in order to value chromosomal analysis as a useful test for malignity in pleural effusions, can be, at least, placed upon those obtained with cytologic diagnosis. Therefore, we think we can consider chromosomal analysis in neoplastic effusions as a useful completion in terms of diagnostic advantage of cytologic diagnosis.

Adult↗

PubMed1975

[Investigations on the mutagenic effect of triethylenemelamine (TEM) on early embryonic tissue and bone marrow of the rat by chromosome analysis (author's transl)].

Female rats were treated with triethylenemelamine (Tretamine; TEM) with a dose of 0.4 mg/kg body weight and 0.6 mg/kg body weight respectively on days 1, 2, 3; 3, 4, 5 or 6, 7, 8 post coitum. The animals were slaughtered on day 9 or pregnancy. Corpora lutea and living and dead embryos were counted to estimate embryonic loss. Thereafter chromosome-analysis of bone marrow cells and embryonic tissue took place. Highter TEM dosage increased the rate of embryonic loss. It increased from 28.1% with a dose of 3 X 0.4 mg TEM to 75.7% with 3 X 0.6 mg TEM. The level of embryonic loss depends on the time of treatment during different stages of early gestation. It was highest on the first 3 days and lowest on days 6-8 of gestation (0.4 mg TEM on -ays 1, 2, 3 p.c., 71.8%; 0.4 mg TEM on days 6, 7, 8 p.c., 2.9%). By the chromosome analysis, early embryonic tissue seemed to be more sensitive to TEM than bone marrow cells. The highest rates of numerical (35.7%) and (3 X 0.4 mg TEM). A higher dose induced a negative dose-effect, the frequency of aberrations decreased (3 X 0.6 mg TEM, 29% NUMERICAL AND 1.2% STRUCTURal aberrations). With increased embryonic loss (from 28.1% to 75%) structural aberrations decreased (from 5.7% to 1.2%). The time of treatment p.c. was highly correlated with the frequency of aberrations. It was highest with TEM application on days 6, 7, 8 of pregnancy; at the same time the mortality rate was lowest. The same tendencies were noted in the investigation of the chromosomes from bone marrow cells.

Animals↗

PubMed1992

Comparison of chromosome analysis and BCL-1 rearrangement in a series of patients with multiple myeloma.

Translocation (11;14)(q13;q32) is a recurring chromosome abnormality which is found non-randomly in non-Hodgkin's lymphoma, especially of follicular type, as well as in B-cell chronic lymphocytic leukaemia, Waldenström's macroglobulinaemia and multiple myeloma. To define further the prevalence of this abnormality in multiple myeloma, we studied a series of 17 patients with this disease with concomitant chromosome analysis and Southern blotting, using a probe specific for the major translocation cluster of the BCL-1 oncogene which is located at chromosome 11q13. Karyotype analysis of 14 evaluable patients revealed three cases with abnormalities of chromosome 11q13, two of them with t(11;14)(q13;q32) and one with del (11)(q13). Southern blot analysis showed no rearrangements in BclI and HindIII digests of DNA from 17 patients including the three patients with anomaly of chromosome 11q13, using a BCL-1 specific probe. A possible restriction length polymorphism was detected in EcoRI cut DNA of five out of 11 patients studied. Therefore the chromosomal break point in our cases with abnormality of chromosome 11q13 must lie outside the major translocation cluster of the BCL-1 gene. However, in centrocytic lymphoma rearrangement of the BCL-1 oncogene has been detected in up to 50% of cases. Location of the break point may therefore be dependent on the differentiation of the transformed B-cell.

Adult↗

PubMedDate not supplied

[Radiation damages in human lymphocytes studied by micronucleus and chromosomal analysis].

It was shown that the dependence of the micronucleus number and chromosome aberration on irradiation dose is linear quadratic, the values of linear coefficient being different. The distribution of ameliorators and children from the areas with higher irradiation level by micronucleus test conforms to Poisson distribution, while the distribution by chromosomal analysis approaches to binomial distribution.

Adult↗

PubMed2005

Neoplasia detection in Macoma balthica from the Gulf of Gdansk: comparison of flow cytometry, histology and chromosome analysis.

A flow cytometry protocol was applied for the detection of neoplasia in Macoma balthica L. from the Gulf of Gdansk (Baltic Sea, Poland). A simple method, based on an osmotic shock, was used to permeabilise gill cells. The cytometric pattern of normal clams consisted of 2 peaks, a major peak B and a smaller peak C. The cytometric pattern of affected clams consisted of 2 peaks named B' and C'. Two parameters were used to define the stages of abnormalities in M. balthica clams based on the percentage of cells in peaks B, C, B' and C' and on the ratio between the fluorescence value of peaks B, C, B' and C' in all individuals. Three stages of neoplasia were clearly distinguished by flow cytometry considering peak C'. Stage 1 was characterised by a major population of cells in peak B' and more than 10% of cells in the C' peak. Stage 2 consisted of a lower percentage of cells in peak B' and more than 25% of cells in peak C'. Stage 3 of the neoplasia was characterised by a further reduction in peak B' and more than 40% of cells in peak C'. Flow cytometry allowed for objective detection of neoplasia and provided a rapid method for measuring the DNA content of thousands of cells per individual. The accuracy of flow cytometry was assessed by comparing with standard histological techniques, used here as a reference technique for the detection of neoplasia, and with chromosome analysis. All individuals were analysed in parallel using the 3 techniques. The proportion of normal and affected individuals diagnosed using flow cytometry was comparable to the proportion determined by histology and chromosome analysis.

Analysis of Variance↗

PubMedDate not supplied

[Contribution of in situ hybridization to chromosomal analysis].

In situ hybridization (ISH) is a new technique which allows localizing on chromosomes a molecule of DNA homologous to a given sequence of nucleic acids. It permits to improve the chromosomal analysis by marking any sequence of nucleic acids in interphase or metaphase. It opens new prospects for chromosomes mapping, study of evolution, chromosomal diagnosis, the role of oncogenes and chromosomal mechanics.

Biological Evolution↗

PubMed1995

[Cytogenetic alterations found by chromosome analysis and fish technique in two patients with variant chronic lymphocytic leukemia].

Chromosomal studies in CLL have yielded poorer results than in other blood diseases because of the low mitotic index of the B cells. The FISH technique is a very useful tool for trisomy 12 detection in interphase nuclei in CLL, although this method cannot be a substitutive for conventional cytogenetics. The FISH technique was applied in two cases of CLL by means of satellite DNA probing specific for chromosome 12 according to the Oncor S 1370-CF kit protocol. Trisomy 12 was detected, along with other chromosomal abnormalities secondary to this trisomy. Both patients had lymphocyte counts lower than 5.0 x 10(9)/L and their peripheral blood immunophenotype showed 58% lymphocytes with lambda sIg of medium density, co-expressing CD5 and unable to form rosettes with mouse red-cells. Patient no. 1 was 46,XY/47,XY + 12/47,XY + 12,5q-, and patient no. 2 was 46,XX/47,XX + 12,14q-. The presence of secondary anomalies could explain the special clinico-haematological picture, characterised by low lymphocytosis and presence of irregular nuclei in mature lymphocytes, along with the lack of CD23 expression and rosette formation with mouse red-cells. FISH technique combined with chromosome analysis may prove a useful means for diagnosing and recognising variants or specific entities within low-grade lymphoproliferative syndromes.

Aged↗

PubMed1975

Agar culture and chromosome analysis of eosinophilic leukaemia.

The blood and bone marrow of a 75-year-old woman with eosinophilia were studied in an attempt to characterize further the entity eosinophilic leukaemia (EL). Haemopoietic cell culture in agar gave patterns of colony size and number and cell morphology indistinguishable from those seen in classical chronic granulocytic leukaemia (CGL). Analysis of myeloid cells showed an extra C group chromosome that proved on Giemsa banding to be number 10. These results suggest that some cases of EL represent a chronic myeloproliferative disease that resembles classical CGL but can be distinguished from it by chromosomal analysis.

Aged↗

PubMed1979

Efficient interaction for automated chromosome analysis using asynchronous parallel processes.

It is likely that any practical automated chromosome analysis system will be interactive. To prevent long pauses in the stream of operator interactions, it is necessary, if using standard computer hardware, to configure for asynchronous and parallel operation. A system is presented which uses several computer processors, which can support one or more operators, and which divides processing into interactive and noninteractive sections, smoothes the rate of presentation of interactions, and keeps both the operator and the computer fully employed.

Chromosomes, Human↗

PubMed1993

Chromosome analysis of adenomatous polyps of the colon: possible existence of two differently evolving cytogenetic groups.

A chromosomal study of 42 colonic adenomatous polyps was performed using a technique of direct chromosome analysis derived from the prenatal procedure for diagnosing chromosomal alterations from chorionic villi sampling. Abnormal karyotypes were found in 22 cases. Trisomy 7, the most frequently found alteration, was found in 13 cases, followed by trisomy 13 (nine cases). Monosomy 18 was observed in two cases; in one of these, that of a polyp which had degenerated into an intra-mucosal adenocarcinoma, it was associated with 17p monosomy. Interestingly, these two types of alterations (trisomy 7 versus 18 and 17p monosomy) were not found together in the same lesion. This suggests that there could be two distinct chromosomal behaviors which might be related to the two cytogenetic groups described for colorectal adenocarcinoma. However, the respective frequencies of such cytogenetic groups varied inversely between adenomas and adenocarcinomas, thus suggesting that they evolve differently.

Adult↗

PubMed1991

Chromosome analysis on two long-term established human colorectal carcinoma cell lines.

A chromosomal analysis was carried out on two colorectal carcinoma cell lines (WiDr and COLO 205), which were established 15-20 years ago in the US and were collected by the Cell Bank of the Veterans General Hospital in Taipei. Among the 200 cells counted, 65.5% of WiDr (male) had 68-73 chromosomes, while 74% of the COLO 205 (female) had 70-76 chromosomes per cell. The Y chromosome was absent in the 30 WiDr metaphases analyzed. None of the other chromosomes, including X and the autosomes of both WiDr and COLO 205, revealed such a numerical deficiency. Over half of the autosomes had an average number per cell above 2.0. The existence of 5 or 6 normal homologues for certain autosomes was not rare in either line. Numerous structural abnormal marker chromosomes were present in the cells. As compared with the original chromosome findings which were done over 10 years ago, we noted that the range of chromosome counts was wider and the number of marker chromosomes increased in these long-term cultivated cell lines.

Chromosome Aberrations↗

PubMed1989

Translocation (3;21) in Philadelphia positive chronic myeloid leukemia: high resolution chromosomal analysis and immunological study on five new cases.

Translocation t(3;21)(q26;q22) is a rare but nonrandom event occurring in Philadelphia positive chronic myeloid leukemia. We describe five new cases (two males, three females) where t(3;21) is associated with the progression of the disease. Using FACS analysis, we confirm the myeloid type of the blast crisis. High resolution chromosomal analysis allowed us to define more precisely the chromosomal breakpoints to 3q26.2 and 21q22.2, close to the respective localizations of two genes important in cell proliferation and cancer pathogenesis: the transferrin receptor gene and the ets.2 proto-oncogene.

Adult↗

PubMed1994

[Chromosomal analysis of human eggs fertilized in vitro].

With the advent of IVF-ET, human oocytes and early embryos are now available for chromosomal analysis. In this study, 44 chromosomal preparations of human oocytes or early embryos from 36 women in an IVF program were analyzed. 13 oocytes with normal haploid chromosome complement were not fertilized. The cause of failure of fertilization was attributed to either male factors or to immaturity of oocytes. 4 oocytes not fertilized were found to be either hyperhaploid or hypohaploid. Among 26 fertilized but not cleavaged oocytes 8 were also abnormal, 7 were normal haploid but in different developmental stages with the fertilizing sperms, 11 showed polyspermia. One two-cell embryo showed normal diploid set. The high ratio of oocyte chromosomal abnormalities and abnormal fertilization may be explained by the use of drug hyperstimulation of follicular development. Similar abnormalities, although to a lesser extent, may occur in a natural reproductive process.

Adult↗

PubMed1982

[Chromosome analysis of swine and their offspring with muscular weakness of the extremities].

The chromosome analysis was used to examine three triads (sire - dam - progeny) and two pairs (sire - dam) after whom the progeny inherited the muscular dystrophy of extremities. In the first case, the examination included the progeny, in the second case only the parents. The examination was performed by using lymphocyte caryotypes of peripheral blood and evaluated by the method after Moorhead et al. (1960) modified by Lojda et al. (1974). Each animal had a separate card. In all animals, hyposomy, hyperploidy and polysomy occurred most frequently, less frequent was the occurrence of breaks. With respect to the variability of the found numerical and structural changes in caryotypes of the examined animals, it was impossible to generalize the specificity of these changes for the muscular dystrophy of extremities in pigs.

Animals↗

PubMed1983

Adult T-cell leukemia. Chromosome analysis of 15 cases.

Chromosome studies was conducted on 15 patients with adult T-cell leukemia. Cells with chromosomal abnormality were seen in 14 of the 15 patients. The modal chromosome number was near diploid range in all the patients. The most common abnormality was 14q+ marker chromosome and partial deletion of the long arm of chromosome 6, i.e., 6q-, which were seen in eight and seven cases, respectively. Donor chromosomes involved in the 14q+ marker chromosome varies, i.e., Yq, #5p, #5q, #9q, #10q or #12q, except for two patients whose donor chromosome origins were unable to determine. The break point in 14q+ marker chromosome was band at q32. The 6q- chromosome was due to a deletion in one patient and interstitial deletion in six patients. A 14q- chromosome having break point at q24 was found in one patient and duplication of Yq chromosome in two patients. In addition, four patients showed a 5q- chromosome or a 9q- chromosome which was due to a translocation or deletion. The significance of these chromosome abnormalities was discussed.

Adult↗

PubMed1977

Chromosome analysis in the Kruger National Park: the chromosomes of the bushbuck (Tragelaphus scriptus).

Chromosome studies in the male and female bushbuck (Tragelaphus scriptus) are discribed. The male has a diploid chromosome number of one fewer than the female, and the Y-to-autosome fusion. The configuration of a quadrivalent observed in meiotic preparations from the male confirmed the presence of a fusion between a Y chromosome and an autosome. All other members of the tragelaphine tribe so far studied chromosomally show the presence of a Y-to-autosome fusion. It is postulated that the fusion observed in all present-day species of the tribe studied to date arose as a single event in a common ancestor.

Animals↗

PubMed1977

Idiopathic acquired refractory sideroblastic anemia: Banded chromosome analysis in six patients.

Chromosome analyses with banding were performed on six patients with idiopathic acquired refractory sideroblastic anemia (IARSA). One patient was found to have an extra chromosome No. 8, but had a normal level of red cell glutathione reductase. Bone marrow chromosomes from the other patients showed a normal karyotype. 28 patients with IARSA, including our 6 patients, have had chromosomal analyses. Two consistent chromosomal abnormalities have been described: a + 8 in three patients and a 20q- in three others. Despite the presence of chromosomal abnormalities in abouut one half of the patients, no patients has yet developed acute myelogenous leukemia. Several have died of hemochromatosis. The presence of a chromosomal abnormality appears to have no influence on the early course of IARSA.

Adult↗