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PubMed1995

Comparison of cytogenetic analysis, southern analysis, and polymerase chain reaction for the detection of t(14; 18) in follicular lymphoma.

This study was undertaken to compare the ability of cytogenetic analysis (CG), Southern analysis (SA) and the polymerase chain reaction (PCR) to detect the t(14; 18) in follicular lymphoma (FL). All methodologies were performed by standard techniques. The probes used for SA included major breakpoint region (mbr) and minor cluster region (mcr) probes. The primers for PCR were identical or similar to those used by other investigators. One hundred fifteen cases of FL were ascertained by morphologic criteria, from which sufficient fresh tissue was available for both CG and molecular analysis. Eleven cases failed by both methods (nonrepresentative sampling). One hundred four cases showed evidence of an abnormal clone by CG and/or immunoglobulin gene rearrangement (IgH) studies. Cytogenetic analysis failed in 2 cases, was positive for t(14; 18) in 91 of the remaining 102 cases (89%) and detected a non-t(14; 18) close in 11 cases. An IgH clonal rearrangement was confirmed in all 104 cases. Southern analysis detected a mbr or mcr rearrangement in 78 of 104 cases (75%). Polymerase chain reaction detected an mbr or mcr rearrangement in 68 of 104 cases (65%). The use of PCR as a clinical test to detect t(14; 18)-positive lymphomas, with single primer sets for the mbr and mcr, will result in a high false-negative rate. The use of additional primers to detect uncommon breakpoints sites will be required to enhance the sensitivity of PCR for detection of t(14; 18) in malignant lymphoma.

Base Sequence↗
PubMed1988

Cytogenetic analysis of ependymoma and teratoma of the ovary.

Cytogenetic analysis was performed on G-banded chromosomes from short-term cultures established from surgically removed tumor material from two patients. A karyotype of 56, XX, +5, +7, +7, +8, +13, +13, +18, +19, +20, +21 was found in one ovarian ependymoma. The grade 3 immature teratoma showed a karyotype of 47,XX, +3.

Adult↗
PubMed1987

Cytogenetic analysis of a gossypol-induced murine myxosarcoma.

Cytogenetic analysis of gossypol acetate-induced murine myxosarcoma demonstrated a stemline of 78 chromosomes and the presence of three marker (M) chromosomes produced by robertsonian translocation. Tumor cells at passage 1 that contain chromosomes M1 and M2 were nontumorigenic, whereas cells at passage 3 were tumorigenic in syngeneic mice and showed M1, M2, and M3. The presence of M3 has been implicated to be responsible for the tumorigenic phenotype.

Animals↗
PubMed2006

Limited clinical value of regular bone marrow cytogenetic analysis in imatinib-treated chronic phase CML patients monitored by RQ-PCR for BCR-ABL.

Real-time quantitative polymerase chain reaction (PCR) for BCR-ABL mRNA in the peripheral blood (RQ-PCR) provides an accurate and reliable measure of response to therapy in chronic myeloid leukaemia (CML). We wanted to determine in what circumstances additional clinically relevant information was provided by simultaneous cytogenetic analysis in RQ-PCR monitored patients receiving imatinib treatment. We analysed 828 simultaneous RQ-PCR and bone marrow cytogenetic analyses from 183 patients with chronic phase CML with a median follow-up of 20 months. Cytogenetic progression was defined as Philadelphia (Ph)-positive clonal evolution, loss of complete cytogenetic response or an increase of > or = 20% Ph-positive cells. Cytogenetic progression occurred in 24/183 (13%) patients. At the time of cytogenetic progression, none of the 24 patients had a major molecular response (MMR; > or = 3-log reduction in BCR-ABL from standardised baseline). There were 320 RQ-PCR results from 95 patients indicating MMR. No abnormality was detected in any of the corresponding cytogenetic analyses. A policy of regular RQ-PCR monitoring with cytogenetic analysis targetted only to patients who have not achieved, or have lost MMR would represent a rational approach to monitoring and spare most patients the discomfort of multiple marrow aspirates. This approach depends upon availability of an accurate, reproducible RQ-PCR assay with ongoing quality assurance.

Adolescent↗
PubMed1998

Characterisation of a collecting duct carcinoma by cytogenetic analysis and comparative genomic hybridisation.

Collecting duct carcinoma (CDC) is a rare variant of carcinoma of the kidney with aggressive behaviour. CDC arise from the epithelium of the ducts of Bellini in the distal nephron. A CDC in a 53-year old male patient is characterised both by cytogenetic analysis and comparative genomic hybridisation (CGH). The cytogenetic analysis shows a biclonal karyotype 47,XY,+3[2]/40-44,XY,-12[3], -22[4][cp5]/46,XY[42]. Loss of DNA sequences detected by CGH involves chromosome 1, 2, 9, 11 and 18. Gain of DNA sequences affect chromosome 16 and 20. The characterisation of a CDC in this study represents an additional contribution to the poorly explored CDC.

Adult↗
PubMed2000

Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions.

More than 50% of spontaneous abortions (SAs) have abnormal chromosomes; the most common abnormalities are trisomy, sex chromosome monosomy, and polyploidy. Conventional cytogenetic analysis of SAs depends on tissue culturing and is associated with a significant tissue culture failure rate and contamination by maternally derived cells. Comparative genomic hybridization (CGH), in combination with flow cytometry (FCM), can detect numerical and unbalanced structural chromosomal abnormalities associated with SAs while avoiding the technical problems associated with tissue culture. Routine cytogenetic and CGH analysis was performed independently on tissue from 301 SAs. Samples shown to be chromosomally balanced by CGH were analyzed by FCM to determine ploidy. Of 253 samples successfully analyzed by both approaches, there was an absolute correlation of results in 235 (92.8%). Of the 18 cases with discrepancies between cytogenetic and CGH/FCM results, an explanation could be found in 17. Twelve samples produced a 46,XX karyotype by cytogenetics, whereas CGH/FCM demonstrated aneuploidy/polyploidy or a male genome, indicating maternal contamination of the tissue cultures. In two cases, where tetraploidy was demonstrated by cytogenetics and diploidy by FCM, tissue culture artifact is implied. In three cases, CGH demonstrated an aneuploidy, and cytogenetics demonstrated hypertriploidy. In one unexplainable case, aneuploidy demonstrated by CGH could not be detected by repeat CGH analysis, conventional cytogenetic, or FISH analysis. These results demonstrate that CGH supplemented with FCM can readily identify chromosomal abnormalities associated with SAs and, by avoiding maternal contamination and tissue culture artifacts, can do so with a lower failure rate and more accuracy than conventional cytogenetic analysis.

Abortion, Spontaneous↗
PubMed1989

Cytogenetic analysis of four primary prostatic cultures.

Primary cell cultures were established from tissue specimens obtained from patients undergoing transurethral resection of the prostate. Cytogenetic analysis of these cultures revealed a normal male chromosomal complement from one and a 45,X karyotype from another patient with benign prostatic hyperplasia. In addition, a normal male chromosomal complement was observed from a moderately differentiated prostatic carcinoma, and a grossly abnormal karyotype was observed from a poorly differentiated adenocarcinoma of the prostate. This latter specimen contained a modal chromosome number of 84 with several consistent marker chromosomes including homogeneous staining regions and double minutes, and no normal chromosomes 3, 5, 10, 15 or Y. Primary prostatic cell cultures exhibit epithelial-specific keratin intermediate filament proteins, and, in conjunction with cytogenetic analysis, provide a model for the study of human prostate cancer.

Chromosome Aberrations↗
PubMed1994

Acrylamide-induced chromosomal damage in male mouse germ cells detected by cytogenetic analysis of one-cell zygotes.

Within a project coordinated by the Commission of the European Communities for the detection of germ cell mutagens, the cytogenetic analysis of first-cleavage metaphases was carried out to detect chromosomal damage induced by acrylamide (AA) in meiotic and postmeiotic stages of mouse spermatogenesis. Male mice were intraperitoneally injected with single acute doses of 75 or 125 mg/kg or treated with five daily injections of 50 mg/kg and mated either 7 or 28 days after the end of treatment. Chromosomal aberrations were scored in C-banded metaphases prepared from one-cell zygotes by a mass harvest technique. AA treatment of late spermatids-spermatozoa resulted in significant increases of structural aberrations at all doses tested. The data could be fitted to a curvilinear regression and a doubling dose of 23 mg/kg was calculated. The large majority of observed aberrations were of the chromosome type, including dicentrics, rings and translocations, in agreement with a mechanism of chromosomal damage mediated through the alkylation of DNA-associated protamines. Even though the frequency of aberrations 28 days after treatment was not significantly higher than the control value, the presence of multiple rearrangements in two cells suggested that AA might also have a minor effect on spermatocytes. The results of the cytogenetic analysis of first cleavage metaphases agreed well both qualitatively and quantitatively with the outcome of dominant lethal and heritable translocation assays. AA-induced cytotoxicity was monitored by flow cytometric DNA content analysis of testicular cells. By this method, a dose-dependent depletion of mature spermatids after treatment of spermatogonia and a toxic effect upon primary spermatocytes were detected.

Acrylamide↗
PubMed2003

Comparative cytogenetic analysis on four tree frog species (Anura, Hylidae, Hylinae) from Brazil.

A comparative cytogenetic analysis was carried out on four Hylinae tree frogs from Brazil ((Aparasphenodon brunoi, Corythomantis greeningi, Osteocephalus langsdorffii, and Scinax fuscovarius) using Giemsa staining, BrdU replication banding, Ag-NOR staining, C-banding, DAPI and CMA(3) fluorochrome staining, and fluorescence in situ hybridization (FISH) with an rDNA probe. All the species share closely similar 2n = 24 karyotypes, almost indistinguishable by standard staining. The technique of BrdU incorporation allowed the identification of each pair of homologs and the establishment of extensive homeology for the great majority of the chromosomes, mainly of A. brunoi, C. greeningi, and O. langsdorffii. Despite highly conserved replication banding patterns, the use of the other banding techniques disclosed some minor differences, which reinforces the importance of extensive cytogenetic analyses for the karyotypic characterization of Anuran species. The present cytogenetic data confirm the closer proximity of A. brunoi, C. greeningi, and O. langsdorffii, whereas S. fuscovarius is phylogenetically more distant.

Animals↗
PubMed1996

Early prenatal diagnosis: standard cytogenetic analysis of coelomic cells obtained by coelocentesis.

Coelomic fluid samples (n = 30) were obtained from normal pregnancies between 6.0 and 10.0 weeks and attempts to culture the coelomic cells were made. With one culture system, nine of ten samples were cultured and successful cytogenetic analysis was performed. There have been no previous reports of traditional cytogenetic analysis of coelomic cells and this might be the breakthrough for coelocentesis as a future method for early prenatal diagnosis.

Amniocentesis↗
PubMed1996

High incidence of a second BCR-ABL fusion in chronic myeloid leukemia revealed by interphase cytogenetic analysis on blood and bone marrow smears.

The t(9;22)(q34;q11) is the single most common chromosomal abnormality in leukemias. Recently, dual-color fluorescence in situ hybridization (FISH) protocols for the detection of the BCR-ABL fusion, which is the molecular counterpart of this translocation, have been described. In the present study, we analyzed blood or bone marrow smears of 46 patients (34 with chronic myeloid leukemia [CML] and 12 with acute lymphoblastic leukemia [ALL]) for the presence of a BCR-ABL fusion. On these clinical routine samples, hybridization was performed with high efficiency and the BCR-ABL fusion was detected reliably. This series includes one case with a Philadelphia chromosome (Ph) on banding analysis and negative reverse transcriptase polymerase chain reaction (RT-PCR) results. Surprisingly, in 13 of the 34 CML patients (4 of 17 patients with chronic phase and 9 of 17 patients with blast crisis), and in 1 of the 12 ALL patients, an additional BCR-ABL fusion was diagnosed in 4% to 72.5% of interphase cells. In 10 of these 14 patients, banding data are available; only in two cases was the additional Ph detected by metaphase analysis. The data from this interphase cytogenetic analysis indicate that an additional Ph occurs more frequently than would be assumed based on banding analysis.

Adult↗
PubMed2000

The chromosome: cytogenetic analysis and its clinical application.

PURPOSE: Chromosomes are highly structured, dynamic complexes of DNA and protein. The human genome consists of 46 chromosomes (22 paired autosomes and 2 sex chromosomes). Cytogenetic analysis provides a means to identify, as well as describe, chromosomes and disorder-related aberrations. The purpose of this article is to 1) introduce chromosome structure and alterations, 2) describe the technical fundamentals of cytogenetic analysis, and 3) provide a brief overview of the clinical applications of this technology.

Chromosomes, Human↗
PubMed1999

Computer-assisted cytogenetic analysis of 51 malignant peripheral-nerve-sheath tumors: sporadic vs. neurofibromatosis-type-1-associated malignant schwannomas.

Cytogenetic studies in small groups of patients with malignant peripheral-nerve-sheath tumors (MPNST) revealed complex karyotypes with no consistent changes. A computer-assisted cytogenetic analysis using a cytogenetic database was performed to determine recurrent cytogenetic alterations in 51 MPNSTs (44 from the literature and 7 new cases) and to allow direct cytogenetic comparison between NF-1-associated and sporadic MPNSTs. Significant loss (p < 0.05) was observed in the chromosomal regions 9p2, 11p1, 11q2 and 18p1. Also, loss in 1p3, 9p1, 11q1, 12q2, 17p1, 18q1-q2, 19p1, 22q1, X and Y was detected. Gain of chromosomal material was found in chromosome 7, especially 7q1 (p < 0.05). Most involved breakpoints were: 1p13, 1q21, 7p22, 9p11, 17p11, 17q11, 22q11. Cytogenetic differences between NF-1-associated and sporadic MPNSTs included a relative loss of chromosomal material in NF-1-associated MPNSTs in 1p3, 4p1 and 21p1-q2 and a relative gain in 15p1-q1. Differences in breakpoints between the NF-1 associated and the sporadic MPNST group were observed in 1p21-22 (28% of NF-1 vs. 0% of sporadic MPNSTs), 1p32-34 (17% vs. 0%), 8p11-12 (7% vs. 27%) and 17q10-12 (24% vs. 7%). This approach, in which the cytogenetic results of various reports are combined, shows that losses in 9p2 and gains in 7q1 could be of oncogenetic importance in MPNSTs. Loss of 17q1, on which the NF-1 gene has been located (17q11.2), is not a common cytogenetic finding in NF-1-associated MPNSTs. The observed differences between NF-1-associated and sporadic MPNSTs might reflect different oncogenetic pathways.

Adolescent↗
PubMed1999

[Cytogenetic analysis and bcr/abl mRNA detection in chronic myeloid leukemia].

OBJECTIVE: To define the relationship between Ph chromosome and BCR/ABL mRNA expression in chronic myeloid leukemia (CML) patients, and compare cytogenetic analysis and PCR method. METHODS: Marrow or peripheral blood samples from 33 CML patients were analyzed by R banding technique and PCR method. Eleven patients who received allogeneic BMT or alpha-IFN + low dose HU were followed up. RESULTS: In 33 patients, 29 were Ph(+), 30 expressed BCR/ABL mRNA. In 6 patients who received BMT, 4 were Ph(-), 2 were Ph(+). However, 2 patients were (-), 4 were (+) by PCR method. In 5 patients who received alpha-IFN, the percentage of Ph(+) cells reduced after 6 and 12 months treatment than before treatment in 2 cases respectively. In 41 samples, 34 cases were consistent by 2 methods. CONCLUSION: Each method, Cytogenetic analysis or PCR has its advantage and defect. The better method are integration of 2 methods in diagnosis and treatment monitoring of CML patients, so that provide real and beneficial information for clinic.

Adolescent↗
PubMed2003

[Biologic and clinical relevance of cytogenetic analysis in primary myelodysplastic syndromes].

Cytogenetic abnormalities in myelodysplastic syndromes (MDS) are complex and heterogeneous. The most frequent rearrangements (gains or losses of genetic material) vary from patient to patient, and within the same patient. The prognostic value of these rearrangements has been extensively studied. They allowed the definition of a risk based classification system for MDS (the International Scoring System for evaluating Prognosis, IPSS), proven to be a highly useful method for evaluating prognosis in MDS patients. Despite recent progress in mapping and definition of minimally deleted chromosomal regions, the primary critical genetic events remain to be determined. The recurrent cytogenetic abnormalities associated with MDS are likely to be secondary events contributing to but not initiating the neoplastic phenotype of the disease.

Chromosome Aberrations↗
PubMed1994

Cytogenetic analysis of a choroid plexus papilloma.

We report the cytogenetic analysis of a choroid plexus papilloma, a benign tumor, with a modal number of 56 chromosomes. In our review of the few reported karyotypes of choroid plexus tumors, we found no predictive relationship between the karyotype and the pathologic diagnosis or outcome.

Choroid Plexus Neoplasms↗
PubMed1989

Cytogenetic analysis of blood lymphocytes from X-ray radiographers.

Cytogenetic analysis was performed on blood lymphocytes from 46 healthy radiographers exposed to an annual dose of X-rays below the Maximum Permissible Occupational Limit (MPOL 5 rem/year) for a period ranging from 6 months to 26 years. Total chromosomal aberrations including dicentric and ring forms was 10.18%, which was significantly higher (P less than 0.01) than that (1.17%) of 50 healthy unexposed individuals (controls). A significant increase in the frequency of SCEs in cells from radiographers (11.2 +/- 0.9 SCE/cell) was noticed as compared with the controls (6.9 +/- 0.2 SCE/cell). There was a significant difference in lymphocyte proliferation between the two groups. These results indicate the importance of monitoring the health status of radiation workers.

Adult↗