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PubMed2001

Combined study of prostatic carcinoma by classical cytogenetic analysis and comparative genomic hybridization.

Conventional cytogenetic analysis of prostatic carcinoma (PC) is characterized by inefficient growth of tumor cells during in vitro culture, leading to a lack of aberrant karyotypes in many of investigated tumors. In this study we have combined a modified short-term tissue culture method for conventional banding analysis and comparative genomic hybridization (CGH) to examine genetic changes in PC, and to evaluate the effect of the in vitro culture on chromosomal changes by comparing results of the two methods. Cytogenetic analysis was performed on 34 PCs using both, conventional and molecular methods. Tumor tissues were obtained predominantly from untreated primary tumors from 48 patients. For karyotyping all tumor samples were short-term cultured using a feeder layer technique. Additionally DNA from uncultured tumor material from 17 of those patients was isolated and screened for copy number changes using CGH. Conventional banding analysis: clonal aberrations were detected in 65% of the tumor samples. Most of the chromosomal findings were numerical changes, including loss of chromosomes Y (32%), 18, 19 and 21 (each 12%). Less frequent, trisomy of chromosome 7 and monosomy of chromosomes 9, 12 and 22 (each 9%) was found. Additionally an inversion of chromosome 9p and a deletion at chromosome 7q was found in two cases. In 35% no clonal aberrations could be detected. CGH: DNA copy number changes were detected in 65% of the analyzed tumors. Predominantly losses of DNA sequences were found. The most common losses were found at chromosome regions 13q21q33 (29%), 6q11q23 (24%), 16q, and 18 (each 18%), and the most common gains at 19 (18%). In six tumors no copy number changes were found. Both methods showed a similar aneuploidy rate, suggesting that the feeder layer technique is quite a suitable method for in vitro culture of PC cells. However, the two techniques produced substantially differing results for most of the tumor samples, and in some cases the discrepancies are quite striking. Therefore eventual culture effects need to be taken into account when comparing results from conventional cytogenetics and CGH. Some contrary findings from the two methods are discussed.

Aged↗

PubMed1988

Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis.

Distinguishing between balanced and unbalanced chromosome complements segregating from parental rearrangements may be difficult using only classical cytogenetic techniques if banding morphology is similar under both expectations. In these situations, supplementing cytogenetic analysis with molecular genetic techniques and flow cytometry may provide increased diagnostic accuracy. To illustrate this, we present a case in which similar band pattern morphology would be expected for both the balanced carrier (heterozygote) and the recombinant dup q chromosome complements segregating from a mother with a balanced inversion [46,XX,inv(5)(p13q33)]. The parents came to Northwestern for consultation after receiving conflicting interpretations of their first amniotic fluid cultures. An ultrasound examination was said to be normal. They inquired whether there were ways to increase their confidence that the complement was unbalanced. Their reluctance to terminate the pregnancy was due to a 6-year history of infertility. After extensive counselling, the couple elected repeat amniocentesis. Further cytogenetic analysis of repeat amniotic fluid cultures by G-banding and R-banding, molecular genetic analysis with highly polymorphic DNA probes, and quantitative flow cytometry were performed. Results agreed that an unbalanced fetal complement was present. Southern blot analysis with a 5p marker definitively demonstrated a lack of maternal 5p material in the fetus, and in situ hybridization showed a 5q marker at either end of the recombinant chromosome. Flow cytometry was consistent with this interpretation. Because of the advanced gestational age, the parents elected to terminate based on cytogenic results of the second amniocentesis, rather than to wait another 1-2 weeks for results of other methods.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed2005

Cytogenetic analysis of cell lines.

Cytogenetic analysis forms an essential part of characterizing and identifying cell lines, in particular those established from tumors. In addition, karyotypic analysis can be used to distinguish individual subclones and to monitor stability. This chapter describes basic cytogenetic procedures suited to cells in continuous culture. The provision of unlimited material by cell lines encourages an heuristic approach to harvesting and hypotonic treatments to yield metaphase chromosome slide preparations of improved quality suitable for subsequent banding and fluorescence in situ hybridization (FISH) analysis. The experience of the writers with more than 500 different cell lines has shown that no single hypotonic harvesting protocol is adequate to consistently deliver satisfactory chromosome preparations. Thus, evidence-based protocols are described for hypotonic harvesting, rapid G-banding, and FISH analysis of cell cultures to allow troubleshooting and fine-tuning to suit the requirements of individual cell lines.

Cell Line↗

PubMed1996

Cytogenetic analysis of dedifferentiated chondrosarcoma.

Cytogenetic analysis of a dedifferentiated chondrosarcoma with a fibrosarcomatous component revealed the following chromosomal complement: 47,XX,i(1)(q10), add(6)(q13),+7,+8,t(10;12) (p11.2;q11.2),+14,-15,-17, add(19)(q13,4). Chromosome studies of dedifferentiated chondrosarcoma are sparse. Three of the anomalies in the present study are similar to those previously described in dedifferentiated chondrosarcoma.

Chondrosarcoma↗

PubMed1996

Extraskeletal and Skeletal Myxoid Chondrosarcoma: A Multiparameter Analysis of Three Cases Including Cytogenetic Analysis and Fluorescence In Situ Hybridization.

Background: Myxoid chondrosarcoma (MCS) is a rare, low-grade, indolent tumor that can occur in soft tissue and bone. It is, however, capable of distant metastases. Previous cytogenetic data include a translocation, t(9;22)(q22-31;q12), occurring in 6 of 14 cases of the extraskeletal variant of the disease. Recently, rearrangement of the EWS gene has been reported in MCS. Methods and Results: Three cases of MCS, two skeletal and one extraskeletal, were examined to identify primary cytogenetic changes and correlate these with immunohistochemical, ultrastructural, and flow-cytometric analysis. The extraskeletal variant of MCS revealed a clonal translocation, t(9;22)(q22;q12), and trisomy for chromosomes 5, 7, 8, 12, 18, and 19. Our two cases of skeletal MCS showed complex karyotypes. In one skeletal tumor, a cryptic translocation involving chromosome 6p21.3 was identified by fluorescence in situ hybridization analysis, using chromosome-specific libraries. Conclusions: Thus far, 50% of cases of extraskeletal MCS, including our cases, have demonstrated a specific translocation, t(9;22)(q22-31;q12). Identifying this translocation is useful in confirming the diagnosis of MCS. Additional cytogenetic and molecular analysis is useful for detecting this translocation, and is also essential to determine other regions of possible diagnostic importance, such as the 6p21.3 breakpoint demonstrated in the present study. These techniques may be most useful for the skeletal lesions, in light of their heterogeneous cell populations and karyotypic variability.

Journal Article↗

PubMed1995

Cytogenetic analysis of thyroid tumors after cryopreservation.

Current cytogenetic evaluation of solid tumors is performed on fresh tissue specimens requiring on-call tissue culture facilities. The application of cryopreservation to tumor samples prior to cytogenetic analysis allows collection of tumors to a desired sample size. We evaluated methods of cryopreservation for their effects on growth potential from 11 benign thyroids and one papillary thyroid cancer. Mitotic indices and thyroglobulin expression applying imunocytology were analyzed. Compared to fresh tumors, the revived tumor samples showed unaltered thyroglobulin expression. A statistically significant (p < 0.004) prolongation to develop mitotic activity occurred in samples received after the freezing of dispase digested tissues, but not in samples frozen as thinly cut pieces. In addition, the data show that cytogenetic analysis at the 400-band level can be achieved in cryopreserved thyroid tissues.

Carcinoma, Papillary↗

PubMedDate not supplied

Centralized cytogenetic analysis of pediatric acute leukemia: results of an Italian collaborative experience.

BACKGROUND AND OBJECTIVE: Cytogenetic analysis of acute leukemia yields important information which has been demonstrated to be correlated to patient survival. A reference laboratory was created in order to perform karyotype analysis on all cases of acute leukemia enrolled in the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica) protocols. METHODS: From January 1990 to December 1995, 1115 samples of children with ALL or AML were sent in for cytogenetic analysis. The results of cell cultures were screened in the Reference Laboratory and then the fixed metaphases were sent to one of the six cytogenetic laboratories for analysis. RESULTS: The leukemic karyotypes of 556 patients were successfully analyzed. An abnormal clone was detected in 49% of cases of ALL and in 66% of AML. In ALL the most frequent abnormality was 9p rearrangement. Other recurrent abnormalities were t(9;22), t(4;11) and t(1;19). In AML t(8;21), t(15;17) and 11q23 rearrangement were the most frequent structural abnormalities. These findings are similar to the results obtained in other multicenter studies using a similar approach. INTERPRETATION AND CONCLUSIONS: Our data confirm the feasibility of performing cytogenetic analysis in a centralized laboratory on mailed samples of bone marrow and/or peripheral blood; this is very important considering that cytogenetic analysis of neoplastic tissue requires a special laboratory and expert staff.

Acute Disease↗

PubMed1993

Cytogenetic analysis of posterior uveal melanoma.

Cytogenetic analysis was performed on short-term cultures of primary tumor samples from seven patients with posterior uveal melanoma. Informative data were obtained from four patients, all of whom had a near-diploid chromosomal number and clonal chromosomal alterations. Analysis of one patient's tumor revealed monosomy 3 as the only cytogenetically distinguishable aberration. Trisomies of chromosome 8 and i(8)(q10) were detected in two other patients in combination with monosomy of chromosome 3. The fourth patient's karyotype displayed two different translocations. One translocation, der(6)t(6;8)(q12;q13.1), resulted in the over-representation of 8q13.1-->qter and a partial monosomy of 6q12-->qter; the other translocation, der(9)t(6;9)(p12;p23), produced a partial trisomy of 6p12-->pter and a partial monosomy of 9p23-->pter. These results support the view that the recurring pattern of chromosomal rearrangements in ocular melanoma is unique from that associated with cutaneous malignant melanoma. Furthermore, these results help confirm that chromosomes 3, 6, and 8 are nonrandomly altered in ocular melanoma.

Adult↗

PubMed1995

Molecular cytogenetic analysis of monosomy 7 in pediatric patients with myelodysplastic syndrome.

Monosomy 7 is a non-random cytogenetic abnormality that is frequently associated with myelodysplastic syndromes (MDS). Twenty-four bone marrow samples from five pediatric patients with MDS were analysed using both traditional and interphase cytogenetic analysis. The majority of the metaphases were monosomic for chromosome 7 while interphase cytogenetic analysis consistently detected a disomic cell population in nondividing cell populations. This suggests that the monosomy 7 cells have a distinct proliferative advantage compared to the disomic cell population. The results demonstrate that interphase cytogenetic analysis provides important cytogenetic information about non-dividing cell subpopulations, enhancing our understanding of the cell dynamics of normal and monosomy 7 cells in MDS.

Adolescent↗

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↗

PubMedDate not supplied

[The cytogenetic analysis of unfertilized human oocytes].

Cytogenetic analysis of 186 unfertilized human oocytes obtained from 145 women were carried out according to programs of in vitro fertilization. The ratio of different cytogenetic types of oocytes in their heterogenic population was determined. At least 30% of oocytes were shown to have nuclear and cytoplasmic immaturity. The level of chromosome anomalies in oocytes of second meiotic metaphase comprised 30.8%.

Adult↗

PubMed2005

Down syndrome: clinical and cytogenetic analysis.

OBJECTIVE: To describe the clinical features and cytogenetic analysis of patients with Down syndrome (DS). DESIGN: An observational study. PLACE AND DURATION OF STUDY: The Departments of Paediatrics and Internal Medicine of Military Hospital, Rawalpindi (MH, RWP) from January 1998 to December 2001. PATIENTS AND METHODS: Two hundred and ninety-five children <18 years of age clinically diagnosed as DS were included. The clinical presentation features, associated anomalies and maternal characteristics were noted. RESULTS: Out of 295, 170 boys and 125 girls had chromosomal findings consistent with the diagnosis of DS. The mean presentation age was 16.2 months while 49 (16.6%) children presented in the neonatal period and 124 (42%) in infancy. Mongoloid slant, epicanthal folds, hypertelorism, simian crease, flat nasal bridge, and microcephaly were observed in >60% of cases. Congenital heart disease was documented in 103 (34.9%) cases and ventricular septal defect was the commonest cardiac anomaly. The cytogenetic analysis revealed that 282 (95.6%) had trisomy 21, 11(3.7%) had translocation, and only 2(0.7%) were mosaic. The mean maternal age was 29.8 years. One hundred and sixty (56.7%) cases with trisomy 21 had maternal age> 35 years, whereas 9/11(81.8%) cases of translocation had maternal age < 35 years. CONCLUSION: The cytogenetic pattern of DS was similar to previously described series. Inadequate antenatal screening and scarce neonatal examination results in late presentation of DS. Majority of cases can be diagnosed on the clinical features of DS.

Down Syndrome↗

PubMed1986

Cytogenetic analysis of lymphoblastoid cell lines.

Cytogenetic abnormalities were discovered in more than half of 16 lymphoblastoid cell lines established from fragile X individuals and their relatives upon routine cytogenetic analysis of early passage cultures. Subsequently, a second series of lymphoblastoid lines was analyzed to determine if the aneuploidy was a characteristic of lymphoblastoid cell lines derived from fragile X families or a result of the use of cyclosporin A in the establishment of these lines. In the second series of 33 lymphoblastoid cultures, no aneuploid clones were found in the fragile X group, while two were detected in the control cultures, one in a line initiated with cyclosporin A and the other in a line established without cyclosporin A. We conclude that the abnormal clones in our preliminary series were not a characteristic of lines derived from fragile X families and probably not due to the use of cyclosporin A. However, the finding of chromosome abnormalities in a large proportion of lines during the first 3 mo of culture contrasts with previous reports of chromosome stability for the first 12-18 mo of cultivation and indicates that the chromosomes of lymphoblastoid lines should be monitored in any experiment in which a normal diploid complement is critical.

Adolescent↗

PubMed1983

A comparison of fertility assessment and cytogenetic analysis for the detection of translocation heterozygotes in CD-1 mice.

A comparison of the fertility and cytogenetic analyses and the combination of both techniques as generally used in the heritable translocation assay was conducted with triethylenemelamine (TEM). CD-1 mice were used as the F0 generation and were divided into two groups that received i.p. either distilled water (control) or TEM at 0.15-0.20 mg/kg. A total of 226 F1 males were generated (125 control, 101 TEM group) and were subjected to both sequential fertility assessment and direct cytogenetic analysis. A litter size of 10 was used for the fertility assessment method and 25 cells per animal were scored for the direct cytogenetic analysis; 20 animals were initially identified as translocation carriers based on the fertility analysis and 16 animals were identified by cytogenetic analysis. When these data were compared and the discrepancies resolved, each method separately identified 16 translocation carriers (15 animals common to both methods). With the combination of data for both techniques, as is done in the heritable translocation assay, a total of 17 translocation heterozygotes were identified. Use of either the fertility method alone or the cytogenetic method as routinely used would have resulted in the separate identification of 16 translocation carriers per procedure, with each method failing to identify one carrier.

Animals↗

PubMed2002

[Detection of trisomy 8 and monosomy 7 in chronic granulocytic leukemia and myelodysplastic syndrome by cytogenetic analysis and fluorescence in situ hybridization].

INTRODUCTION AND AIMS: In this retrospective study the authors studied how interphase fluorescence in situ hybridization can be applied to the diagnosis of numerical chromosomal anomalies failed to be identified by cytogenetic analysis. METHODS: Thirty-four patients, 27 with chronic granulocytic leukemia and seven with myelodysplastic syndrome, were studied in order to identify disease-specific aberrations, trisomy 8 and monosomy 7 using both traditional cytogenetic analysis and fluorescence in situ hybridization on interphase bone marrow cells. Using alphoid-satellite centromeric specific probes, trisomy 8 indicating the progression of the disease and poor prognosis in chronic granulocytic leukemia as well as monosomy 7 in myelodysplastic syndrome were identified. RESULTS: In 21 of 34 cases both methods led to the same results. In 13 patients fluorescence in situ hybridization making possible to examine a great number of cells, provided more information about the gain and loss of chromosomes above and clarified uncertain cytogenetic results. CONCLUSIONS: In both hematological malignancies, studied by the authors, fluorescence in situ hybridization proved a useful and sensitive method to determine chromosomes unrecognized or not accurately identified by the traditional cytogenetic analysis and to define the ratio of pathological cells. At the same time the results confirm that conventional cytogenetic analysis is still essential in diagnosing the genetic alterations of malignant cells and point at the chromosomes that are worth further studying by other methods.

Adolescent↗

PubMed1995

Cytogenetic analysis is non-informative for assessing the remission rate in chronic myeloid leukemia (CML) patients on interferon-alpha (IFN-alpha) therapy.

Cytogenetic analysis is considered pivotal for assessing the remission rate in CML patients on IFN therapy. On the basis of general agreement, at least 25 metaphases should be analyzed in each case. The main limitations to this approach are: 1) the small number of analyzable metaphases generally found in cytogenetic preparations from IFN-alpha-treated patients; and 2) the inability of this technique for scoring interphase cells. We compared the results of cytogenetic analysis and double-color FISH detection of bcr/abl genes fusion in 13 CML patients on IFN-alpha therapy (marrow sampling for cytogenetic and FISH analysis was carried out after 12 months in all patients and repeated after 18 months of IFN therapy in patients 4, 6, and 8). In five specimens, 20 to 25 cells were evaluable for cytogenetic examination, in another five no analyzable metaphases were scored, and in the remaining six samples two to 14 cells could be analyzed. With FISH detection at least 100 cells were easily scored in each specimen (mean number, 175). Comparing the results carried out with the two methods in different samples it emerged that cytogenetic analysis led to improper conclusions as regards the rate of Ph positivity, even in those patients where 20-25 metaphases were analyzed. Although many more cases have to be studied to establish the role of FISH analysis in Ph-positive patients, we are of the opinion that cytogenetic analysis is unfit for easily and accurately assessing the actual quality of remission in IFN-treated subjects.

Chromosome Aberrations↗

PubMed1992

[Investigation of the incidence of aberration in various indication for prenatal cytogenetic analysis].

In order to evaluate the role of prenatal cytogenetic analysis for the management of pregnant women, we studied the incidence of chromosomal aberration in 1,258 cases. In 502 cases with advanced maternal age (at least 35 years older), 12 (2.4%) cases of chromosome aberration were detected. The incidence of chromosomal aberration in the cases with women who had a previous child with chromosome aberration, women who had given birth to a congenital malformation child, and women who had ultrasonographic abnormalities were 3.0% (8/271), 0% (0/103) and 11.7% (36/307), respectively. Of cases with advanced maternal age, the incidence of chromosome aberration is 0% (0/21) at age 35, 0% (0/22) at age 36, 19% (1/52) at age 37, 2.2% (2/92) at age 38, 10% (1/102) at age 39, 1.3% (1/75) at age 40, 5.3% (3/56) at age 41, 6.9% (3/43) at age 42, 4.4% (1/23) at age 43 and 6.7% (1/15) at age 44. These results indicate that the incidence of chromosome aberration increases with maternal age. On the basis of these data, we recommend medical practice to offer prenatal diagnosis to all women who will be 37 or older. In the cases of fetal anomaly, they were diagnosed by ultrasonographic examination, the high incidence of chromosome aberration was detected in comparison with another group. Therefore, the prenatal cytogenetical analysis may also be performed in these cases.

Adult↗

PubMed1989

Direct cytogenetic analysis of primary neuroblastoma.

In this paper the results of cytogenetic analysis of a metastatic neuroblastoma from a 14-month-old boy are described. Direct cytogenetic analysis was performed on tumor pieces obtained from surgery prior to therapy. Consistent numerical and structural chromosome aberrations were identified. The modal chromosome number was 48, with 9.4% of the cell population being in the near-tetraploid range. In all karyotyped cells, the Y chromosome was missing and additions of chromosomes 7 and 14 were identified. Two rearranged #1 were observed: del(1)(p22 or p31) and t(1;18)(p22 or p31;q11-12), resulting in monosomy of the distal segment of the short arm and trisomy of the long arm. In two cells, single minutes were found; this chromosomal aberration has been previously described in a case of metastatic neuroblastoma.

Chromosome Aberrations↗