摘要:

AbstractNonradioactive in situ hybridization (NISH) on sections of paraffin‐embedded neuroblastoma tissue was performed to evaluate numerical and structural aberrations of chromosome 1. Two biotinylated probes specific for the heterochromatic (D1Z1) and subtelomeric regions of chromosome 1 (D1S32) were used to study normal tissue and 4 neuroblastoma samples with and without 1p36 deletions. The NISH findings in 3 of the 4 neuroblastomas correlated well with the results obtained by cytogenetic banding analysis. In 1 tumor sample, however, a deletion at 1p36 was observed by NISH, both on metaphase spreads and interphase nuclei, but not by cytogenetics. The NISH method is therefore advantageous when only paraffin‐embedded material is available and can be even more sensitive than conventional cytogenetic analyses under certain conditions. Moreover, the technique provides morphological information that cannot be obtained by methods relying on tissue extracts or cell suspensions. © 1993 Wiley‐Lis

ISSN:1045-2257    

DOI:10.1002/gcc.2870060103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractA method combining flow sorting and molecular cytogenetic techniques for the identification of unknown marker chromosomes is described. In this study, the bladder tumor cell line J82 was used, which was known to carry a marker chromosome of the size of chromosome 7 in every cell. From the cytogenetic analysis of Q‐banded metaphase cells, it was shown to be composed of ∼40% presumably the greater part of chromosome 20 and for the rest microscopically unidentifiable material. This marker chromosome was found using flow cytometric analysis to form an independent peak and hence was suitable for isolation using dual‐parameter sorting after staining with Hoechst 33258 and chromomycin A3. Subsequently, the marker was isolated by dual‐parameter sorting. DNA amplification of 300 isolated chromosomes by polymerase chain reaction (PCR) using the Alu‐primer Bk33 and the LINES‐primer LH5 was carried out. After purification of the amplified product, a yield of 5 μm of DNA was obtained. The DNA was labelled using Bio‐11‐dUTP and applied to human lymphocyte metaphase cells in a suppressive in situ hybridization procedure. Fluorescence was visible over chromosome 20 and over the distal one‐half of 6p. Together the fluorescent regions accounted for only ∼60% of the marker length, indicating a possible duplication of chromosome 20 material. This was confirmed by applying bicolor in situ hybridization using chromosome 6‐ and 20‐specific DNA libraries to metaphase cells of the J82 cells

ISSN:1045-2257    

DOI:10.1002/gcc.2870060104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractFluorescence in situ hybridization (FISH) was used as a complement to earlier cytogenetic studies of human renal tumors. Chromosome‐specific para‐centromeric probes were applied to cells disaggregated from tissue blocks of tumors, fresh samples from which had yielded cytogenetic results after short‐term culture. Cells were dissociated from thick sections of paraffin‐embedded, formalin‐fixed tissues. Biotin‐labeled probes specific for chromosomes 1, 3, 7, 11, 12, 15, 17, and the Y chromosome were applied in individual cases and were detected by fluorescence. Probes for chromosomes 1, 7, and 17 yielded clean signals with disomic control frequencies near 90%, and 97% of controls showed a single bright spot for the Y chromosome. The 9 cases selected all provided ample numbers of dissociated cells which were hybridized successfully, although some chromosomal signals were poor in individual cases. Abnormal copy numbers of chromosomes 1 and/or 17, not identified in culture, were observed in 7 cases. Trisomy 7 observed in culture was substantiated by FISH on the original tissues, as was loss of the Y, in each of 4 cases, respectively. Our results include limited validation of culture cytogenetics, evidence of selection in culture of tumor subpopulations, and demonstration that interphase cytogenetics by FISH is applicable to archival tissue blocks after prolonged periods of storage. Conditions of culture before harvest and inherent heterogeneity within tumors permit selection for nonrepresentative subgroups within tumors and emphasize the need for multiple approaches to evaluation. © 1993 Wil

ISSN:1045-2257    

DOI:10.1002/gcc.2870060105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractCharacteristic cytogenetic aberrations have been reported in adult lipomas and liposarcomas, but few karyotypes have been reported for pediatric adipose neoplasms. In this report we describe a consistent rearrangement, der(8)(pter→q13::q24.1→qter), in 2 of 3 lipoblastomas. A similar der(8) was present in the only other published lipoblastoma karyotype, but this der(8) has not been reported in lipomas, liposarcomas, or nonadipose solid tumors. We investigated the potential specificity of der(8)(pter→q13::q24.1→qter) by karyotyping an unselected series of nonlipoblastoma adipose tumors in children and young adults. The series included 14 lipomas, 2 atypical lipomas (“well‐differentiated liposarcomas”), and 2 angiomyolipomas; der(8) was not found in any tumor from this series. Three lipomas, however, contained rearrangements in the region of chromosome band 12q14, as has been described frequently in adult lipomas. Because clinical features in lipoblastoma can mimic those in liposarcoma, recognition of der(8)(pter→q13::q24.1→qter) is of potential diagnostic relevance. © 19

ISSN:1045-2257    

DOI:10.1002/gcc.2870060106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractPrimary tumors from 39 patients with non‐small cell lung carcinoma (NSCLC) were examined for cytogenetic abnormalities by conventional short‐term harvest (1–39 days) of primary cultures of minced solid‐tumor tissues and by harvest of monolayer cultures of tumor tissue (6 days to 5 months) on murine fibroblast feeder layers. A successful karyotype was obtained with both methods in nine of 39 cases. Among the remaining 30 cases, a successful karyotype was obtained in eight cases by the conventional method only and in three cases by the feeder cell method only. The success rates were 44% for the conventional method, and 31% for the feeder cell method, and the combined success rate was 51% for one or the other method. The feeder culture method, in which harvests were usually performed at later times than with the conventional method, generally produced metaphases with superior banding, which allowed clearer definition of cytogenetic abnormalities. In addition, cell lines were established in eight of these cases by the feeder cell method. Karyotypes from the longer‐term harvests typically were very similar to those from short‐term conventional cultures. Minor numerical differences and/or a few additional structural abnormalities were noted in seven of the nine cases analyzed by both methods. Overall, however, even in karyotypes from 5‐month cultures, the prominent recurrent changes and modal chromosome numbers observed in short‐term cultures were still present. The results indicate that long‐term culture with fibroblast feeder cells is a valid means of obtaining cells from solid lung tumors for cytogenetic and molecular analysis. Cell lines established by this method will be useful in future molecular studies, for example, for mapping of chromosome breakpoints and sites of chromosome loss, for in situ hybridization, and for studies of the expression of critical candidate genes implicated by cytogenetic findings. In addition, by combination of conventional and feeder cell harvests, both the number of primary tumors successfully examined karyotypically and the quality of the analyses are improved.© 19

ISSN:1045-2257    

DOI:10.1002/gcc.2870060107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractWe previously reported a 5′ rearrangement of theBCL2locus in a t(18;22) variant translocation found in a lymphocytic lymphoma. Primary structure analysis of both rearranged chromosomes confirmed the localization of the breakpoint in the so‐called vcr region (for variant cluster region) that encompasses Z‐DNA stretches 5′ of theBCL2locus, and in between Jλ1 and Cλ1 segments on theIGLlocus. A 1,027 nucleotide segment from chromosome 22 was repeated on both derivative chromosomes 18q + and 22q ‐. This segment contained an octanucleotide that was also present in the normal chromosome 18 close to the breakpoint. As a consequence of the translocation, a normal‐sized BCL2 transcript was overexpressed in tumor cells. © 1993 W

ISSN:1045-2257    

DOI:10.1002/gcc.2870060108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractDeletions and/or allelic losses of a portion of the long arm of chromosome 11 were discovered by cytogenetic and restriction fragment length polymorphism analyses in 23 of 39 (59%) informative cases of colorectal carcinoma. By comparing the patterns of loss of heterozygosity and chromosome rearrangements in different patients, we could map a common target region to 11q22‐23. This region may contain a tumor suppressor gene, the inactivation of which may be involved in the development of tumors of the large intestine. The subgroup of malignancies with 11q alterations seemed to be enriched by tumors that were located in the rectum, that were Dukes' stage A, and that were well differentiated and mucin producing.© 1993 Wiley‐

ISSN:1045-2257    

DOI:10.1002/gcc.2870060109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractShort‐term cultures from 20 breast carcinomas were analyzed cytogenetically. A normal female chromosome complement was found in 4 cases. Clonal chromosome aberrations were detected in 16 tumors. In 10 tumors, multiple cytogenetic clones were found; in 2 cancers the clones were related, reflecting clonal evolution, but in the remaining 8 tumors the clones were cytogenetically unrelated, indicating clonal heterogeneity in the origin of the tumor parenchyma. Correlation analysis between karyotypic and pathologic parameters indicated that cases with complex karyotypes and/or cytogenetically unrelated clones, when compared with cases with a single simple karyotypic abnormality, were generally of higher histologic malignancy grade, had more mitoses in the histologic sections, and also more often had carcinoma in situ lesions in the same breast. © 1993 Wiley‐Liss,

ISSN:1045-2257    

DOI:10.1002/gcc.2870060110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractLoss of distal 9p is a common genetic alteration in squamous cell carcinoma of the head and neck. A vocal cord lesion incorporating a carcinoma‐in‐situ and a focus of invasive carcinoma revealed loss of the Y chromosome and a 9p22 rearrangement with loss of 9p22‐pter. Loss of 9p22‐pter appears to be a primary autosomal abnormality in this squamous cell carcinoma. © 1993 Wiley

ISSN:1045-2257    

DOI:10.1002/gcc.2870060111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractWe report the cytogenetic analysis of a primary pineal germinoma. The modal chromosome number was 81. Multiple numerical and structural chromosome abnormalities were noted along with a large homogeneously staining region (HSR). No isochromosome 12p was identified. © 1993 Wiley‐Liss, I

ISSN:1045-2257    

DOI:10.1002/gcc.2870060112

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY