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PubMed1988

Population analysis of karyotypic heterogeneity of the Raji Burkitt lymphoma cell line. Analysis of 100 karyotypes.

A constant lymphoblastoid line Raji (Burkitt lymphoma) has been used as a model for population cytogenetic studies. In analyzing 100 G-banded metaphase plates, four karyotypically distinct clones of cells with 48 chromosomes have been recognized, forming a modal class. In tracing the origin of marker chromosomes (in all 15), the presence of material specific for Burkitt chromosome markers 14q+ and 8q- has been shown. The application of the method of karyotype reconstruction has shown a uniformity in the overall chromosome material of all four groups of cells despite a different set of normal and marker chromosomes. The presence of 40% of cells with unique structural rearrangements (USR) demonstrated, to a significant extent, the structural instability of chromosomes in Raji cells. The nonrandom nature of distribution of "hot spots" along the chromosomes in the process of formation of both markers and USR has been shown. A preferential involvement of chromosomes #6, #7, and #8, as well as of separate regions 1p32, 6q15, 11q13, and 21p13 has been recorded. This report discusses aspects of karyotypic heterogeneity of cell populations in vitro and structural instability of regions of chromosomes #1 and #11, that coincide with the localization of the oncogene L-MYC or sequence BLYM-1 and the oncogene BCL-1.

Burkitt Lymphoma↗
PubMed1997

Analysis of human sperm karyotypes in testicular cancer patients before and after chemotherapy.

Sperm karyotype analysis was performed on testicular cancer patients before and after treatment with BEP (bleomycin, etoposide, and cisplatin). A total of 788 sperm chromosome complements was studied, 236 before chemotherapy (CT) and 552 post-CT. There was no significant difference in the total frequency of sperm chromosomal abnormalities pre-CT (10.2%) compared to post-CT (10.7%). Similarly, there were no significant differences in the frequencies of numerical abnormalities (2.5% pre-CT vs. 2.4% post-CT) or structural abnormalities (6.4% pre-CT vs. 7.4% post-CT). The percentage of X-bearing sperm was also not significantly different before (46.3%) and after CT (50.1%). The results in cancer patients were not significantly different from those in control donors. This study corroborates results from our previous analysis of these same men using multicolor fluorescence in situ hybridization for assessment of aneuploidy for chromosomes 1, 12, X, Y, and XY. Together, these two studies suggest that the sperm of men receiving BEP chemotherapy are not at increased risk of chromosomal abnormalities two or more years after treatment.

Adult↗
PubMed1989

Analysis of bivariate flow karyotypes.

Bivariate flow karyotype analysis is performed using data from chromosomes stained with two fluorescent dyes, typically chromomycin A3 and Hoechst-33258, and measured in a flow cytometer or cell sorter (Carrano et al.: Proceedings of the National Academy of Sciences of the United States of America 76:1382-1384, 1979; Gray et al.: Proceedings of the National Academy of Sciences of the United States of America 72:1231-1234, 1975; Langlois et al.: Proceedings of the National Academy of Sciences of the United States of America 79:7876-7880, 1982). In the resulting bivariate histogram, most chromosome types appear as individual peaks. In sorting of chromosomes to purify a specific chromosomal type, its corresponding peak in the bivariate histogram is delineated by a rectangular region which surrounds it. All events (objects) that fall within this region trigger the sorting process. In most cases, peaks for different chromosomal types overlap to some extent, and in addition there is always an underlying background due to chromosome fragments and clumps. Thus the sorted population will not be pure; it may include more than one chromosome type and will include debris. To determine the purity of a sort, i.e., the percentage of the sorted material that is of the actual chromosomal type desired, two methods of mathematical analysis have been developed. In the more general method, the bivariate data within an analysis region that includes the sort region, are fit with a series of bivariate Gaussian functions, one for each peak. In a simplified method, the data within the analysis region are transformed into a univariate distribution of either chromomycin A3 or Hoechst-33258 fluorescence. The peaks in these univariate distributions are fit with univariate Gaussian functions. In both methods the purity is determined mathematically. The results of both methods agree well with independent methods of analysis.

Animals↗
PubMed1996

[Detection of numerical chromosomal aberrations in hematopoietic malignancy by in situ hybridization on bone marrow aspirate paraffin sections].

We evaluated the usefulness of in situ hybridization (ISH) with chromosome specific DNA probe on paraffin sections of bone marrow aspirates. Twenty cases of hematopoietic malignancy and eight control cases of non-hematopoietic malignancy were examined with centromere-specific probes for chromosomes 8 and 17. In the eight control cases, the mean rates of cells with more than three hybridization signals were 1.13 (2SD = 1.90) for chromosome 8, and 0.88 (2SD = 2.25) for chromosome 17. The mean rates plus 2SD were 3.03 for chromosome 8, and 3.19 for chromosome 17. Therefore, we defined cases of more than 4.0% of cells showing more than three hybridization signals per nuclei as having a numerical abnormality (trisomy). We compared these results with conventional cytogenetic results by karyotype analysis. In twenty hematopoietic malignancy cases, three cases demonstrated trisomy 8 by ISH. Two cases also demonstrated this abnormality by karyotype analysis, but one case showed no abnormality by karyotype analysis. While trisomy 17 detected in one case that did not demonstrate numerical abnormality, only structural abnormality by karyotype analysis. The rate of discrepancy between results of ISH analysis and those of karyotype analysis was only 5% (2/40) for both chromosomes. In five cases, re-examinations were performed within three months. In one case, we could not obtain adequate material for karyotype analysis. However, this case showed trisomy 8 by ISH. Structural chromosomal abnormalities such as translocation or deletion could not be detected by this ISH analysis with centromere-specific probes. However, this method has the advantage result that we can perform retrospective assessments, do not need to culture cell, and can compare with pathological findings. Thus, we conclude that ISH analysis with paraffin sections of bone marrow aspirates will provide more useful information by combining ISH analysis and karyotype analysis.

Bone Marrow Cells↗
PubMed2006

Diversity of Dilepididae (Cestoda: Cyclophyllidea) revealed by cytogenetic analysis.

Karyotypes of three dilepidid species: Molluscotaenia crassiscolex, Anomotaenia bacilligera and Dilepis undula, which have not been recorded previously, were studied using conventional Giemsa staining and comparative karyometric analysis. Twelve small biarmed chromosomes were observed in mitotic cells of M. crassiscolex, 16 biarmed chromosomes of gradually decreasing size were found in cells of A. bacilligera, while 18 elements were characteristic for D. undula. These data, together with information available in literature, prove the heterogeneity and possible polyphyletic nature of the family Dilepididae.

Animals↗
PubMed1986

Karyotype-phenotype analysis: 9p deletion versus 10q2 duplication.

An analysis of karyotype-phenotype correlations was carried out on a male infant with 46,XY, -9, +der(9)t(9;10)(p22;q25.2)mat. Cytogenetically, the patient had a 9p deletion and a concurrent 10q2 duplication. Clinically, he manifested predominantly the features of 9p deletion syndrome. An epistasis of 9p deletion over 10q2 duplication was evident in this patient. Possible explanations for this epistatic phenomenon are discussed.

Chromosome Aberrations↗
PubMed2003

Spectral karyotype (SKY) analysis of human prostate carcinoma cell lines.

BACKGROUND: Well-characterized in vitro model systems provide an invaluable tool for studying prostate cancer in the laboratory. Detailed karyotypes have been reported using modern techniques such as multiplex fluorescence in situ hybridization (M-FISH) and spectral karyotyping (SKY) for LNCaP, DU 145, NCI-H660, and PC-3 cell lines. However, karyotypic data for more recently established prostate carcinoma cell lines are still limited. METHODS: Classical (G-banding) and SKY analyses were performed on ten prostate carcinoma cell lines: 22Rv1, CWR-R1, DuCaP, LAPC-4, MDA PCa 1, MDA PCa 2a, MDA PCa 2b, PC-346C, PSK-1, and VCaP. RESULTS: Chromosomal abnormalities were identified in all cell lines, although the number and complexity varied greatly among them. PC-346C, established from a primary tumor, exhibited the lowest number (3) of clonal structural abnormalities, while DuCaP, established from a metastasis from a hormone-refractory patient, exhibited both the highest number (31) and largest complexity of structural abnormalities. In various subsets of these models, breakpoints were identified in chromosomal regions previously described as being involved in prostate cancer (e.g., 8p, 10q, 13q, and 16q). CONCLUSIONS: The present study provides a comprehensive karyotypic analysis of a large number of prostate carcinoma cell lines, and offers a valuable resource for future investigations.

Carcinoma↗
PubMedDate not supplied

CHROMPAC III: an improved package for microcomputer-assisted analysis of karyotypes.

An improved package of BASIC computer programs designed to facilitate complete analysis of karyotypes is described. The package's many functions include facilities for measurement of chromosomes, analysis of data, pairing of homologues, designation of sex chromosomes and supernumeraries , storage and recall of data, and generation of idiograms and karyograms .

Chromosomes↗
PubMed1981

Evaluation of chemically induced cytogenetic lesions in rabbit oocytes. I. The test system and the effects of streptonigrin.

An appropriate method for evaluating transmissible genetic damage in female germ cells is presented. Analysis of karyotype preparations from preimplantation (6- day) rabbit embryos for consistent structural chromosome abnormalities is described as a sensitive way in which these determinations can be made. A table prepared from summarized research reports shows that less than 1 in 2000 rabbit blastocysts karyotyped thus far has a consistent structural chromosome abnormality. In the new data presented in this study, none of the 90 control blastocysts karyotyped had consistent structural chromosome abnormalities while 13 of 278 from female rabbits treated with streptonigrin (NSC-45383) before conception did. These findings demonstrate that karyotype analysis for consistent chromosome lesions in preimplantation rabbit embryos from females exposed to chemical clastogens can serve as a sensitive and quantitative means of estimating effects on oocytes. The results of the study also show that the consistent structural chromosome lesions in the blastocyst karyotypes are what would be predicted from the mode of action of streptonigrin and the segregation of chromosomes during meiosis. The relative efficiency of this system based on the rabbit as compared to another recently described system bases on the hamster is also discussed.

Animals↗
PubMed1994

Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype.

We report on an infant who presented at birth with some characteristics of trisomy 18 syndrome, including low birth weight, facial abnormalities, overlapping fingers, and congenital heart defects. On chromosome analysis, no additional chromosome 18 was observed and both chromosome 18 homologues appeared normal. However, a small piece of chromosomal material of unknown origin was detected at the tip of the long arm of chromosome 1. Fluorescence in situ hybridization (FISH) using whole chromosome 18 painting probes disclosed no additional hybridization at the telomere of 1q, suggesting that the material was derived from another chromosome. Further chromosome painting experiments suggested that the telomeric addition was of chromosome 1 origin. To identify subchromosomal regions involved in the rearrangement, additional FISH analyses were performed using single copy and repetitive DNA probes mapping to different portions of chromosome 1. The analyses showed that probes mapping to 1q34-43 were duplicated in the derivative chromosome 1. In addition, a DNA probe mapping to 1q44 was found to be deleted from the derivative chromosome 1. Our composite analysis suggests that a deletion and a duplication of chromosome 1q can result in some of the clinical findings usually associated with trisomy 18 syndrome. These results demonstrate the usefulness of FISH analysis when karyotype analysis is not consistent with the clinical description.

Abnormalities, Multiple↗
PubMed2007

Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms.

Nonrandom cytogenetic abnormalities of chromosomes 6, 7, and 17 have been reported within low-grade endometrial stromal sarcomas (LGESSs), and among these abnormalities, the t(7;17)(p15;q21) is the most common aberration described. Previously we had shown that this translocation joins 2 genes, JAZF1 and JJAZ1, located on chromosomes 7 and 17, respectively. To determine the frequency of the t(7;17), we analyzed 4 stromal nodules and 24 LGESS by both reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization (FISH). In addition, we examined 4 cases of highly cellular leiomyoma, a benign morphologic mimic of LGESS. Overall, evidence for the JAZF1-JJAZ1 fusion was found in 60% of endometrial stromal neoplasms analyzed (8/16 ESS and 4/4 stromal nodules). One LGESS demonstrated only rearrangement of 7p15 by FISH analysis and karyotypic analysis of this case showed t(6;7)(p21;p15). The fusion was not detected in any highly cellular leiomyomas. Our data suggest that the JAZF1-JJAZ1 fusion is a frequent, although nonuniform, feature of endometrial stromal neoplasia, irrespective of benign versus malignant classification and smooth muscle differentiation. In addition, the detection of the fusion by reverse transcriptase-polymerase chain reaction or FISH for JJAZ1 at 7p15 may be diagnostically useful.

Chromosomes, Human, Pair 17↗
PubMed1994

Detection of i(17q) chromosome by fluorescent in situ hybridization (FISH) with interphase nuclei in medulloblastoma.

Medulloblastomas are the most frequent primitive neurectodermal tumors in children. An isochromosome for the long arm of 17, i(17q), is found in 30% of medulloblastomas. For some authors, this abnormality is observed in cases with a shorter survival time. In our cytogenetic studies of 30 medulloblastomas, we observed i(17q) in only three cases, a monosomy 17 in two cases, a monosomy 22 in four cases, nonspecific numerical or structural abnormalities in five cases, and normal karyotypes in 12 cases. We compared the results of karyotypic analysis after culture and FISH with a chromosome 17 alpha satellite DNA probe on interphase nuclei in five cases of medulloblastoma. In one case, i(17q) was only observed in four cells in karyotypic analysis, in three cases a normal karyotype was found, and in one case karyotypic analysis was impossible. In all of these cases, i(17q) was observed in a great number of nuclei by FISH on interphase nuclei. Our study shows that the FISH on interphase nuclei permitted us to observe i(17q) in the cases where it was not or could not be completely detected by karyotypic analysis. The association of these two techniques is required to detect i(17q), an abnormality whose prognosis value in medulloblastomas is now recognized.

Adolescent↗
PubMed2003

Fluorescence in situ hybridization detection of chromosome IGH/BCL2 translocations from paraffin-embedded tissue: evaluation in follicular lymphoma.

Follicular lymphoma is categorized as low-grade lymphoma because of the long median survival, but the disease is difficult to cure because of frequent recurrence. The t(14;18)(q32;q21) associated with follicular lymphoma juxtaposes a portion of BCL-2 (18q21) and IGH(14q32); the result is bcl-2 overexpression. In this study, a highly sensitive 2-color fluorescence in situ hybridization (FISH) method was used to detect t(14;18)(q32;q21) in the nuclei of paraffin-embedded tissue sections. Fourteen specimens, including 11 samples from follicular lymphoma and 3 samples from diffuse large cell lymphoma, for which results of karyotype study and paraffin-embedded tissues were available were selected for FISH study. The FISH results were compared with results of karyotype study of the lymph nodes involved in lymphoma. Among our 11 patients with the diagnosis of follicular lymphoma in whom karyotype study was performed, 8 had t(14;18)(q32;q21) in karyotype analysis, and 7 of these patients had a positive pattern in FISH analysis. In 1 case, FISH analysis was difficult because of weak signals. All 3 patients with diffuse large cell lymphoma and t(14;18)(q32;q21) in karyotype analysis had a positive pattern in FISH analysis. In 3 cases of follicular lymphoma without t(14;18)(q32;q21) in karyotype analysis, FISH did not show a positive pattern. Therefore the FISH assay in tissue was found to be very sensitive in detection of IGH/BCL2 translocation and was helpful in diagnosis of follicular lymphoma or in clarification of the cell origin of lymphoma when karyotype analysis was not available. Performing FISH on paraffin sections also is useful because we can identify cells with genetic abnormalities in the tumor and make a retrospective cytogenetic diagnosis even with old paraffin-embedded specimens.

Adult↗
PubMed1995

Pericentric inversion 9--incidence and clinical significance.

Pericentric inversion of the chromosome 9, inv(9)(p11q13), is such a common occurrence that some cytogeneticists would consider them as normal variants. The incidence is said to be about 1% to 1.65% in the general population. Despite being categorised as a minor chromosomal rearrangement which does not correlate with abnormal phenotypes, many reports in the literature raised conflicting views regarding the association with subfertility and recurrent abortions, abnormal clinical conditions, as well as chromosomal abnormalities arising as a result of having this inversion. We studied the incidence and clinical significance of inv(9)(p11q13) patients retrospectively from 2448 antenatal cytogenetic analysis and 1058 peripheral blood karyotype collected over a 3-year period. Thirty cases of inv(9)(p11q13) from 29 families were found from the antenatal group, which gave an incidence of 1.2% and 6 cases from the peripheral blood karyotype analysis (incidence of 0.6%). The parental origin of the inv(9)(p11q13) in the antenatal group was of equal proportion and there was also no sex predilection for the fetuses carrying the inversion. The babies with the inversion were born with no phenotypic abnormalities. The 6 cases picked up from the peripheral blood karyotype analysis were 2 cases of paediatric patients with associated chromosomal abnormalities (one Trisomy 21 and the other del 13(q22q32)) and 4 adult patients with obstetric and fertility problems. The incidence of subfertility (36%) appeared to be high amongst the adult patients with inv(9)(p11q13). This may represent a true reflection of subfertility in inv(9)(p11q13) patients or a selective bias towards the older subfertile women who conceive at a later age and thus utilising the antenatal diagnostic setup.

Abortion, Habitual↗
PubMed2003

[Prenatal diagnosis and clinical management of a twin pregnancy consisting of a complete mole and coexisting fetus].

OBJECTIVE: To discuss the differential diagnosis of the hydatidiform mole and a coexisting fetus, to study the prenatal diagnosis and the clinical management of a twin pregnancy consisting of a complete mole and coexisting fetus (CMCF). METHODS: Two cases of CMCF were reported retrospectively. RESULTS: In the first case, the hydatidiform mole and a coexisting fetus was found by B mode ultrasound at the 10th gestational week, the patient asked to terminate the pregnancy. The interphase FISH and karyotype analysis of the normal villi and the mole showed both of them were diploid, thus the CMCF was diagnosed. In the second case, the hydatidiform mole and a coexisting fetus was found by B mode ultrasound at the 21st gestational week. Transabdominal chorionic villi sampling and amniocentesis was performed, interphase FISH and karyotype analysis of the mole and the amniotic fluid showed both of them were diploid, thus the CMCF was diagnosed prenatally. The pregnancy was continued and premature rupture of membrane happened at the 28th gestational week, the cesarean section was performed. The neonate was healthy. The karyotype analysis of the placenta and the neonate was accordant with the prenatal diagnosis. CONCLUSIONS: As long as the hydatidiform mole and a coexisting fetus was found the prenatal diagnosis must be performed in order to differentiate the CMCF and the partial hydatidiform mole (PHM). The transabdominal chorionic villi sampling and the amniocentesis were ideal methods, interphase FISH and karyotype analysis of the mole and the amniotic fluid should be performed. If both of them were diploid, the CMCF could be diagnosed. The clinical management of CMCF should be done individually. If both of them were triploid, the PHM could be diagnosed.

Adult↗
PubMedDate not supplied

[Indications for amniocentesis for prenatal determination of fetal karyotype].

Analysis of the data from 13 centres of prenatal diagnosis in different countries revealed that 35 out of 1532 pregnancies where diagnostical amniocentesis was performed terminated in "spontaneous" abortions. The frequency of "spontaneous" abortions was found to be 2.28%. It was supposed that only those situations where a risk of the chromosomal disbalance in the fetus is above 2% may be regarded as the indications to amniocentesis for karyotype prenatal determination.

Abortion, Spontaneous↗
PubMedDate not supplied

Clonal drift and role of chromosome dosage in human melanoma metastatic cell lines: a statistical analysis.

Karyotypic analyses were performed on twenty human melanoma clones and variants all deriving, following in vivo selections and/or in vitro cloning, from the parental M4Be cell line, but expressing different tumorigenicity (expressed as mean tumor weight) and metastatic ability (expressed as pulmonary metastasis frequency) after s.c. injection in antithymocyte immunosuppressed newborn rats. These cells were hypertriploid, showing quite comparable modal numbers (around 70). They all expressed a wide range of chromosome number per mitosis (28 to 198), as well as a large extent of karyotypic heterogeneity, showed by extensive clonal drifts within the different cell lines. Their common origin was ascertained by five clonal abnormal marker chromosomes deriving from chromosomes 6, 7, 8, 9, 11 and 14. Twenty-one additional marker chromosomes, most of them non clonal, were observed in the different cell lines. We developed a statistical analysis to search for putative relationship between the expression of tumorigenicity and metastatic ability and the evolution of specific subclones within the different cell lines. We showed that the expression of a high mean tumor weight and/or a high metastasis incidence was related to the modification of the ratio of different subclones within each cell line, and more especially to the emergence of subclones presenting partial losses of individual chromosomes or chromosomal fragments, which were encountered with a lower frequency in the low metastatic cell lines. The biological relevance of these findings in terms of clonal evolution and role of chromosome dosage in tumor progression is discussed.

Chromosome Aberrations↗
PubMed2000

The B chromosome system of Trypoxylon (Trypargilum) albitarse (Hymenoptera, Sphecidae) 1. Banding analysis.

Karyotypic analyses of 366 specimens of the solitary wasp Trypoxylon (Trypargilum) albitarse collected from ten populations in the municipalities of Viçosa and Porto Firme (Minas Gerais, Southeastern Brazil), revealed the presence of two morphological types of supernumerary (B) chromosomes. C-banding and fluorochrome banding suggest that the B chromosomes of T. albitarse may have originated from heterochromatin breaks within the standard (A) chromosome complement.

Animals↗