SEARCH · PubMed Health

Results for “Cytogenetic Analysis”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources

PubMed1993

Identification of hyperdiploidy in fixed cells from pediatric acute lymphoblastic leukemia cases using flow cytometry and cytogenetic analysis.

Cytogenetic analysis is of value in predicting clinical outcome of pediatric cases of acute lymphoblastic leukemia (ALL). Hyperdiploidy in these patients has significant impact on therapeutic outcome. Because of the technologic limitations of cytogenetic analysis in determining hyperdiploidy in some of these cases, we devised a method to analyze cytogenetically fixed material for cellular DNA content by standard flow cytometric methods. This technique greatly enhances out ability to interpret the observance of single cell anomalies and assess whether these cells are predictive of clonal stemlines or are a result of random events.

Adolescent↗

PubMed2003

Nodal marginal zone B-cell lymphoma with a novel t(X;5)(q28;q22): conventional and molecular cytogenetic analysis.

Cytogenetic studies provide important information for the diagnosis and classification of malignant lymphomas that in some cases also has prognostic significance. Furthermore, the investigation of isolated novel cytogenetic findings in malignant lymphoma has led to the discovery of many important oncogenes and tumor suppressor genes. For this reason, a case of nodal marginal zone B-cell lymphoma in a 72-year-old woman is described in which analysis by conventional and molecular cytogenetic techniques demonstrated the presence of a t(X:5)(q28;q22) as the sole chromosomal abnormality. This translocation has not been previously reported in the literature.

Aged↗

PubMed1996

Renal primitive neuroectodermal tumor: an immunohistochemical and cytogenetic analysis.

The cytogenetic and morphologic characteristics of a case with a primitive neuroectodermal tumor (PNET) arising from the left kidney in a 22 year old man are presented. The patient was detected as having a left renal mass with a tumor embolus in the inferior vena cava and multiple pulmonary metastases. A radical nephrectomy with tumor embolectomy of the inferior vena cava, along with a resection of the pulmonary nodules were performed. Histologic examination revealed a dense proliferation of small round cells with many Homer-Wright type rosettes and perivascular pseudorosettes. Immunohistochemically, the tumor cells stained strongly positive for HBA71(p30/32MIC2), a surface glycoprotein specific to PNET and Ewing's sarcoma. In addition, the tumor cells expressed several neural markers (neuron specific enolase, neurofilament, synaptophysin, and Leu-7) and vimentin, while the epithelial, muscular, and lymphocytic markers were negative in the tumor cells. Cytogenetic analysis of cultured tumor cells showed a reciprocal translocation t(11;22)(q24;q12) that is considered to be specific to PNET and Ewing's sarcoma. In conclusion, this case suggested that a karyotyping analysis is a useful diagnostic tool for renal PNET, and it may therefore be utilized to help distinguish between difficult cases of small round cell tumors and Wilms' tumor of the kidney.

Adult↗

PubMed2001

Overview. Cytogenetic analysis in haematology.

Cytogenetic analysis has contributed greatly to our understanding of the nature of leukaemia and lymphoma. Study of these two groups of diseases has revealed general truths about the nature of the neoplastic process. Cytogenetic analysis has demonstrated that haematological neoplasms result from a somatic mutation occurring in a haemopoietic, lymphoid or multipotent stem cell. Complete remission has been related to disappearance of the clone of cells bearing the mutation whereas the occurrence of clonal evolution has often been found to be indicative of increasingly aggressive disease. Cytogenetic analysis of leukaemias and lymphomas has led to the discovery of numerous proto-oncogenes; these generally play a crucial role in proliferation and differentiation of normal cells with a perturbation of their function leading to neoplasia. In addition, cytogenetic evidence has suggested a role for loss of function of cancer-suppressing genes in haematological neoplasms. Cytogenetic analysis has also made major contributions to precise diagnosis and to the assigning of prognosis and, furthermore, by identifying good and poor prognostic groups has improved the management of patients. Good-prognosis patients have been spared unnecessary treatment and, conversely, more intensive treatment for some diseases associated with a cytogenetic abnormality that was previously indicative of a poor prognosis has improved the outcome for these patients.

Chromosome Aberrations↗

PubMed1991

Correlations between follicular fluid steroid analysis and maturity and cytogenetic analysis of human oocytes that remained unfertilized after in vitro fertilization.

OBJECTIVE: Is there any correlation between follicular fluid (FF) steroid levels and the occurrence of cytogenetic abnormalities in unfertilized human oocytes? DESIGN: Cytogenetic analysis was carried out on 397 oocytes, and the steroid content of 104 corresponding FF was analyzed using high-pressure liquid chromatography. Ovarian stimulation was performed by clomiphene citrate and human menopausal gonadotropin (hMG) or by hMG combined with a gonadotropin-releasing hormone agonist (GnRH-a) pretreatment. RESULTS: Oocyte maturity was correlated with an increasing FF progestin content and a significant decrease of androstenedione (A) levels. Chromosomal analysis revealed 84 of all oocytes to be abnormal (polyploid or aneuploid and/or prematurely condensed chromosomes present). In this group, A levels and A to estradiol ratios were significantly higher. Although progestin levels were higher in GnRH-a/hMG cycles, the incidence of oocyte normality was not different between the two stimulation schemes. More abnormal oocytes were found in patients with good sperm morphology. CONCLUSIONS: Oocyte abnormality correlates with higher A levels in the corresponding FF. Oocyte fertilization is also determined by intrinsic oocytic factors other than maturity.

17-alpha-Hydroxyprogesterone↗

PubMed1980

DNA content analysis by flow cytometry and cytogenetic analysis in mycosis fungoides and Sézary syndrome.

Flow cytometric (FCM) analysis of DNA content was performed on 82 lymph node and peripheral blood specimens from 46 patients with mycosis fungoides and the Sézary syndrome. Overall, 32 of the 46 patients (70%) had aneuploidy detected by FCM. Aneuploidy was present in 63% of the patients at the time of diagnosis before systemic therapy. In these patients, aneuploidy was frequently detected in blood and lymph node specimens scored as negative by cytology and histology, suggesting that unsuspected extracutaneous dissemination is present in many patients at the time of diagnosis. Direct comparison with Giemsa-banded cytogenetic studies showed an excellent correlation of FCM results and cytogenetic chromosome number. However, FCM frequently detected a larger fraction of aneuploid cells, and mitogen-stimulation studies suggest this is the result of preferential stimulation of normal lymphocytes by phytohemagglutinin. Thus, mitogens with a preference for malignant T cells, such as staphylococcal protein A, should be used for cytogenetic analysis of malignant T-cell disorders. At diagnosis, some histologically positive specimens contained only diploid cells by FCM and cytogenetic analysis. These patients had a more indolent clinical course than patients with aneuploidy. Aneuploidy was detected by FCM as either wide G(1) or as discrete aneuploid peaks. The presence of aneuploidy at any time in the clinical course implied a poor prognosis. Discrete hyperdiploid peaks were associated with large cell histology, early relapse, and aggressive clinical course. The development of hyperdiploidy at relapse was documented in four patients and was associated with a transition to large cell histology and a poor prognosis. Similar studies may elucidate differences in natural history and mechanism for transition in histology in other lymphomas and solid tumors.

Chromosome Banding↗

PubMed1986

Flow cytometric analysis of deparaffinized nuclei in urinary bladder carcinoma. Comparison with cytogenetic analysis.

Both cytogenetic analysis and flow cytometry (FCM) have prognostic efficacy in the analysis of transitional cell carcinoma (TCC) of urinary bladder. To correlate results of the two methods, we studied a unique group of patients whose tumors had undergone prospective conventional cytogenetic analysis. Paraffin blocks of these tumors were processed for FMC, then analyzed for nuclear DNA content. Of the 34 tumors processed, 30 (88%) yielded interpretable DNA histograms. In 26 (87%) of these, there was good correlation between the two methods with respect to the presence or absence of a hyperdiploid cell line. Discrepancies may have resulted from sampling error or from interpretation of a tetraploid peak as a prominent G2M region. Retrospective FCM analysis of paraffinized TCC tissue correlates well with conventional, prospective cytogenetic analysis and is applicable to the majority of urinary bladder transitional cell carcinomas.

Adult↗

PubMed1992

Cytogenetic analysis of meningiomas.

Cytogenetic analysis of 4 cases of meningiomas from 3 male and 1 female patients is reported. One of male patients suffered from neurofibromatosis type 2. Histologically, the meningiomas were meningotheliomatous (1), transitional (2), and psammomatous (1). Chromosomal abnormalities were found in all cases with a karyotype 45,XY,-22, 45,XY,-16, 45,XX,-2, and 45,XY,t (15p;22q), respectively. Monosomy of chromosome 22 was detected only in the patient with neurofibromatosis type 2. These cytogenetic analysis demonstrates that variable clonal karyotype aberrations exist in meningiomas.

Adolescent↗

PubMed1995

Influence of transcription and replication on the in situ resolution of immunoglobulin heavy-chain constant region genes: an interphase cytogenetics analysis.

An interphase cytogenetics analysis was performed to investigate whether replication and transcription could influence in situ resolution of immunoglobulin (Ig) heavy chain constant region genes. A plasmid probe recognizing five C gamma segments separated by known linear DNA distances was hybridized in situ and visualized by digital fluorescence microscopy. In interphase nuclei from phytohemagglutinin (PHA)-stimulated lymphocytes, the gamma genes were resolved as one to three signals per allele in the majority of nuclei, whereas in a minority, complex patterns of several signals per allele could be observed. The latter were restricted to nuclei in an early stage of the S phase, as assessed by hybridization experiments performed in cells grown in the presence of bromodeoxyuridine. To investigate whether the in situ resolution of the C gamma segments could vary as a function of the transcription activity of the locus, the C gamma probe was subsequently hybridized to nuclei from a mature B cell line (JVM-2), which produces gamma transcripts as shown by in situ RNA hybridization experiments. Primary human fibroblasts were further used as representative of a non-lymphoid cell type with transcriptionally inactive Ig genes. When Gl nuclei from the three cell types were compared in terms of the in situ resolution of the C gamma locus, JVM-2 cells were found to include the highest percentage of higher resolution patterns (three to five signals per allele in 28% of nuclei), fibroblasts the lowest (three signals per allele, 2%), while PHA-stimulated lymphocytes occupied an intermediate position between the other two cell types (three or four signals per allele, 15%). The data show that the in situ resolution of Ig C gamma genes varies throughout the cell cycle and is influenced by the transcriptional activity of the locus. The variability of the resolution patterns observed appears to reflect different levels of chromatin packaging, which in turn are likely to influence the probe accessibility to its target. These observations are relevant for the interpretation of data from interphase cytogenetics analysis of independent, but closely spaced, DNA segments.

Cells, Cultured↗

PubMed2006

Combination of broad molecular screening and cytogenetic analysis for genetic risk assignment and diagnosis in patients with acute leukemia.

We evaluated the impact of genetic analysis combining cytogenetics and broad molecular screening on leukemia diagnosis according to World Health Organization (WHO) and on genetic risk assignment. A two-step nested multiplex RT-PCR assay was used that allowed the detection of 29 fusion transcripts. A total of 186 patients (104 males (56%), 174 adults (94%), 12 children (6%), 155 AML (83%), 31 ALL (17%)) characterized by morphology and immunophenotyping were included. Of these 186 patients, 120 (65%) had a genetic abnormality. Molecular typing revealed a fusion transcript in 49 (26%) patients and cytogenetic analysis revealed an abnormal karyotype in 119 (64%). A total of 27 (14%) cases were genetically classified as favorable, 107 (58%) intermediate and 52 (28%) unfavorable. For 38 (20%) patients, there was a discrepancy in the genetic risk assignments obtained from broad molecular screening and cytogenetics. Cryptic fusion transcripts in nine (5%) patients changed the genetic risk assignment in four and the WHO classification in four patients. In 34 patients (18%), cytogenetics defined the risk assignment by revealing structural and numerical chromosomal abnormalities not detected by molecular screening. Broad molecular screening and cytogenetics are complementary in the diagnosis and genetic risk assignment of acute leukemia.

Acute Disease↗

PubMedDate not supplied

[The distribution of individual radiation doses in liquidators of Chernobyl accident using cytogenetic analysis].

The cytogenetic screening was carried out in 100 Chernobyl clean-up workers (liquidators) with registered doses during 1 year after exposure. The bayesian analysis has been applied for constructing the individual distribution of probability density for biological doses estimated from dicentric and centric ring yields in liquidators. The coincidence of the biological and registered dose has been found in 25% of cases; among the rest persons the documented doses exceeded the biological estimations in 25% of cases and the cytogenetic doses were higher than registered ones in 50% of cases. The total distribution of biological doses was constructed by pooling the individual data in 50 mGy dose intervals. The distribution obtained had the maximum at 300-350 mGy and contained 68% of probability density in the dose range 0-1000 mGy. The probabilistic approach in cohort biodosimetry showed the necessity of corrections in radiogenic risk assessment for Chernobyl liquidators. The advantages of bayesian technique for biodosimetrical treatment of cytogenetic data in conditions of small number of cells scored and low aberration yields induced by low dose irradiation were discussed.

Adult↗

PubMed1989

A human adult Wilms' tumor. Histologic, ultrastructural, and cytogenetic analysis.

The cytogenetic, histologic, and electron microscopic studies of an adult patient with Wilms' tumor are presented. Wilms' tumor (nephroblastoma) is a common renal tumor of childhood but is extremely rare in people over 15 years old. The histologic analysis of the patient's tumor, including both light and electron microscopic analysis, indicated that this tumor satisfies the histologic criteria for an adult Wilms' tumor, namely, blastemic cells that are immature renal parenchymal cells, embryonic tubular structures, and a scanty stromal component consisting of loosely arranged spindle cells. The tumor showed several ultrastructural features characteristic of adult Wilms' tumor, namely, markedly elongated mitochondria, autophagic vacuoles, and intracytoplasmic filaments. Karyotypic analysis was performed on the patient's peripheral leukocytes and tumor cells. The leukocytes showed no significant increase in gaps and breaks, and the patient appears to have a normal male karyotype. Some interesting chromosomal anomalies were observed in the cultured tumor cells: at least one chromosome 13, both chromosomes 22, and the X chromosome are missing, three markers are present, and there is a possible deletion of 12p.

Chromosome Aberrations↗

PubMed1992

Prognostic value of cytogenetic analysis in human cerebral astrocytomas.

Cytogenetic analysis has become an important part of the diagnostic evaluation of most hematological neoplasms. However, there is limited information on the value of cytogenetic analysis in most solid tumors, including cerebral astrocytomas. This report summarizes a prospective cytogenetic study of 99 human cerebral astrocytomas, 16 mixed oligoastrocytomas, and 2 gliosarcomas. The cytogenetic procedure involved in situ culture and robotic harvesting techniques. Correlative clinical and survival data were available on all patients. We successfully cultured and obtained suitable metaphases in 107 of the 117 tumors. One or more chromosomally abnormal clones were observed in 72 tumors, and nonclonal or normal karyotypes were observed in 35 tumors. In a multivariate analysis, survival time was significantly better in patients whose tumors had normal or nonclonal karyotypes on cytogenetic analyses than in those whose tumors had clonal abnormalities (p = 0.0071). Our study demonstrates that cytogenetic analysis provides independent prognostic information in patients with cerebral astrocytomas.

Astrocytoma↗

PubMed2003

Molecular cytogenetic analysis of solid tumors.

Molecular cytogenetic methods including fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) can be used for surgically removed solid tumors to obtain information valuable for both biomedical research and clinical oncology. FISH allows cytogenetic analysis even of cells in interphase. In addition, because CGH analysis permits comprehensive analysis of alterations in DNA copy number in a single experiment, it is possible to estimate not only the genetic pathways of carcinogenesis but also the biological characteristics, such as metastatic potential and patient prognosis at the time of diagnosing the solid tumor. The number of DNA copy number aberrations increases with tumor progression, leading to the concept of genetic staging of malignant tumors. Molecular cytogenetic analysis aids in realizing individualized, tailored medicine in cancer patients; therapeutic strategies are constructed for individual patients based on specific genetic alterations.

Cytogenetic Analysis↗

PubMed2006

The usefulness of cytogenetic analysis in fine needle aspirates for the histologic subtyping of sarcomas.

Conventional cytogenetic analysis performed from open biopsy tissue samples may be a useful adjunct for the histologic subtyping of bone and soft tissue sarcomas. However, its diagnostic utility in fine needle aspiration biopsy (FNAB) specimens is unclear. We retrospectively reviewed 24 consecutive FNAB bone and soft tissue sarcoma specimens, procured from 1995 to 2003, in which aspirated material was obtained for cytogenetic analysis. The study sample included eight Ewing sarcomas, six synovial sarcomas, five rhabdomyosarcomas, two myxoid liposarcomas, and one each of myxoid chondrosarcoma, osteosarcoma, and atypical lipoma. Cytogenetic analysis confirmed the t(X;18) in all six synovial sarcomas and the t(11;22) in three Ewing sarcomas. The t(2;13) was strongly suggested in one alveolar rhabdomyosarcoma. For two of these cases (both of which were synovial sarcomas), cytogenetic analysis was necessary for definitive diagnosis. While the positive cytogenetic results were supportive in the remainder, all were initially and accurately subtyped based on cytomorphology and/or immunohistochemistry. Cytogenetic analysis was noncontributory (eg no growth) in 14 sarcoma cases, but excluding the case of atypical lipoma, this did not preclude the rendering of an accurate diagnosis. Cytogenetic analysis can be performed on FNAB specimens from bone and soft tissue sarcomas and may be a useful diagnostic aid in difficult cases. However, when cell block material is available for immunohistochemistry, the majority of such cases are successfully subtyped.

Adolescent↗

PubMed1991

Cytogenetic analysis of two sacral chordomas.

Cytogenetic analysis of two sacral chordomas revealed two distinct abnormal clones in one of the cases: 44,XY,t(1;3)(q42;q11), -2,der(7)t(2;7)(q23;q32), -21 and 46,X,t(Y;8)(q12;q22), t(1;14)(p34;q32),t(5;10)(q13;p11). All cells analyzed from the second case were cytogenetically normal. To the best of our knowledge, chordomas have not previously been subjected to cytogenetic analysis.

Aged↗

PubMed1990

An improved technique for short-term culturing of human prostatic adenocarcinoma tissue for cytogenetic analysis.

An improved technique for cytogenetic analysis of malignant prostatic tissue is described. This method is based on 1) prolonged mild collagenase treatment, 2) careful washing and repeated centrifugation and sedimentation of the disaggregated material to isolate viable prostatic epithelial cells, 3) short-term culture on collagen R-coated chamber slides with PFMR-4 medium supplemented with mitogenic factors, and 4) daily inspection of the cultured cells to determine the optimal time for harvesting. Twenty consecutive primary prostatic adenocarcinomas were cultured and processed for cytogenetic analysis. Outgrowth of pure epithelial colonies was obtained in 16 cases; in three there was a mixture of epithelial colonies and fibroblasts, and in one there was no cell growth. More than 25 metaphases with chromosomes of high banding quality could be analyzed per case, in particular in cultures from the final pellet fraction. Clonal chromosome aberrations were present in four tumors, and nonclonal structural changes were present in nine. Six tumors showed only normal diploid karyotypes.

Adenocarcinoma↗

PubMed1992

Technical advances in the cytogenetic analysis of malignant tissues.

Successful cytogenetic analysis of malignant tissues using conventional techniques depends upon the presence of viable, dividing malignant cells in the sample, and the ability to obtain metaphase cells with good-quality chromosome banding. Even when these necessary conditions are met, many tumors have complex karyotypes that may be difficult to define completely or have subtle chromosomal abnormalities that are difficult to detect. Overall, determination of the karyotype of a malignant tissue is a time-consuming and labor-intensive process, and for some tumors, is associated with a significant technical failure rate. A number of new methods, which are reviewed in this article, have been developed recently that potentially will improve the speed, accuracy, and success rate of cytogenetic analysis of malignant tissues.

Cell Cycle↗