摘要:

AbstractChromosome aberrations of a hypodiploid ovarian carcinoma cell line (modal chromosome number 38) having a complex karyotype were analyzed using biotinylated DNA library probes that specifically hybridize to chromosomes 3, 6, 7, 8, 11, 13, and 16 from telomere (pter) to telomere (qter). A series of cosmid probes localized to the short arm of chromosome 16 were used to further investigate one of the two aberrant chromosomes 16 present in this cell line. The competitive in situ suppression (CISS) hybridization of DNA‐libraries was mostly performed subsequent to GTG‐banding of the same metaphase cell in order to interpret the hybridization signals optimally. This combined approach made it possible to detect the origin of chromosomal material that could not be identified using GTG‐banding. Furthermore, the in situ hybridization techniques appeared to be helpful in the characterization of complex translocations and for accurate breakpoint determin

ISSN:1045-2257    

DOI:10.1002/gcc.2870030402

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

年代:1991

数据来源: WILEY

摘要:

AbstractChromosome aberrations were determined in short‐term cultures of 18 papillary renal cell tumors, as well as in the cell line ACHN, and the results were evaluated together with 20 previously published cases. We found that chromosomes 7, 17, and 16 and the Y chromosome were specifically involved in the karyotype changes in this tumor type. A combination of tri‐ or tetrasomy 7 and trisomy 17, as the only autosomal karyotype changes, marks benign papillary renal cell adenomas (ten cases). Malignant papillary renal cell carcinomas (29 cases) were characterized by additional trisomies: trisomy 16 occurred in 20 tumors, and trisomy 12 and 20 in 8 tumors each. Loss of the Y chromosome was observed in 7 of 9 benign and in 23 of 25 malignant tumors that developed in males. None of the papillary renal cell adenomas or carcinomas showed a loss of 3p or gain of a 5q segment, both of which are characteristic of common non‐papillary renal cell carci

ISSN:1045-2257    

DOI:10.1002/gcc.2870030403

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

年代:1991

数据来源: WILEY

摘要:

AbstractTo establish the chromosome pattern, we have analyzed short‐term cultures of 24 renal cell carcinomas (RCC) from four patients with von Hippel‐Lindau disease (VHL). We evaluated the results together with those for 16 RCCs from two VHL patients karyotyped previously in our laboratory and those of 6 tumors published by others. In all 46 RCCs, the cells had lost the shortest overlapping region of the 3p 13‐pter chromosome segment. The rearrangement of 3p was the only karyotype change in 20 tumors. In more than 50% of the tumors, a gain of the shortest overlapping region of the 5q22‐qter segment was detected. Comparative analysis showed that the chromosome aberrations in RCCs associated with VHL are similar to those found in sporadic RCCs. These results indicate that non‐papillary sporadic and VHL‐RCCs have common genetic mechanisms that result in the loss of the 3p 13‐pter region containing one or more putative sup

ISSN:1045-2257    

DOI:10.1002/gcc.2870030404

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

年代:1991

数据来源: WILEY

摘要:

AbstractChromosome in situ hybridization studies showed that the normal karyotype of leukemic cells from a patient with Ph1‐ negative,BCR‐positive chronic myeloid leukemia (CML) concealed a complex t(9;22;20)(q34;q 11;p13). The close association of5′‐BCRand3′‐ABLwas demonstrated by field inversion gel electrophoresis, and in situ hybridization showed thatBCR‐ABLwas located on the short arm of chromosome 20. Our findings further indicate that chromosome rearrangement is the cause ofBCR‐ABLgene fusion in leukemic cells that show a normal karyotype. Results from in situ hybridization studies were consistent with formation of the t(9;22;20) by a two step chromosomal rearrangement, but field inversion gel electrophoresis results indicated a more comple

ISSN:1045-2257    

DOI:10.1002/gcc.2870030405

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

年代:1991

数据来源: WILEY

摘要:

AbstractThe UM‐E7 monoclonal antibody raised against the UM‐SCC‐I human squamous cell carcinoma (SCC) cell line identifies a cell surface antigen that is strongly expressed in normal tissues. The locus (MICI) controlling the expression of E7 and related cell surface antigens has been mapped to chromosome band I I p 13. This band has been identified as a region of cancer‐associated aberrations and as the probable locus of a tumor suppressor gene. Although E7 antigen expression is strong in normal keratinocytes, it varies among squamous carcinoma cell lines. Some SCC lines (12/26) exhibit weak expression of the E7 antigen, whereas other SCC cell lines (14/26) and 21 cell lines from other tumor types express the antigen strongly. On the basis of these observations and of mapping data, we postulated that low E7 antigen expression in a subset of SCC cell lines might be associated with chromosomal rearrangement or deletion involving the E7 locus on 11p. Fully evaluable karyotypes were prepared from 19 SCC cell lines, including I I with weak and eight with strong E7 expression. Eight of the I I lines with weak E7 expression had I I p abnormalities. Four of these contained I I p deletions, and four others had a breakpoint in 11p. In contrast, none of the cell lines in the group with strong E7 expression had an I I p deletion, although one had a rearrangement with an 11p breakpoint. In the four tumors with visible 11p deletions, the smallest region of overlap corresponded to the 11p13‐p14 region. The mean log1050% endpoint E7 titer in the group with 11p deletions or breakpoints was nearly two orders of magnitude lower than that of the lines with no 11p abnormality (1.95 ± 0.53) (P<0.02). Our results indicate that the UM‐E7 antibody identifies tumors with 11p 13‐p 14 deletions and other 11p rearrangements and that the 11p region is a site of nonrandom chromosome rearrangement in a subset of human squamous cancers. The strong association of loss of antigen expression with visible 11 p deletion or rearrangement in some tumors suggests that other tumors with this phenotype may contain submicroscopic lesions o

ISSN:1045-2257    

DOI:10.1002/gcc.2870030406

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

年代:1991

数据来源: WILEY

摘要:

AbstractThe ability to establish long‐term cell lines of small‐cell lung cancer (SCLC) has provided an in vitro model for the disease. We report on the characterization of 10 new human SCLC cell lines established from 34 cytopathologically positive specimens. Based on morphologic and biochemical characterization, growth properties, and expression ofMYCand neuroendocrine properties, eight cell lines were categorized as “classic” and two cell lines as “variant.” Cytogenetic examination revealed loss of all or part of 3p in all nine SCLC cell lines analyzed. The smallest deletion in common was found at 3p21–3p25. Restriction fragment length polymorphism (RFLP) analyses with probes for 3p were performed for correlation with karyotypic data and supported the cytogenetic findings. In 21 SCLC specimens (cell lines and tumor tissue) with normal DNA, used for comparison, we observed loss of heterozygosity atRAFI(3p25) in ten of ten informative pairs by using two RFLPs from theRAFIlocus. In addition, loss of heterozygosity was noted in nine of 10 pairs examined with DNF 15S2 (3p21) and four of four with D3S3 (3p 14). Analysis of cell lines and tumor specimens that lacked paired normal tissue showed a homozygous pattern with theRAFIprobes in all 18 cases. Northern blots revealed significant expression ofRAFIin all cell lines tested. The transcript size was normal. The cytogenetic and RFLP data suggest that theRAFIlocus at 3p25 is involved in the chromosomal del

ISSN:1045-2257    

DOI:10.1002/gcc.2870030407

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

年代:1991

数据来源: WILEY

摘要:

AbstractCytogenetic studies of Hodgkin's disease (HD), in contrast to those of non‐Hodgkin's lymphoma (NHL), have been limited to small numbers of cases with infrequently recurring aberrations, underscoring the need for additional studies in establishing a coherent Cytogenetic picture of HD. Over a 6 1/2‐year period, we received 95 specimens of HD for Cytogenetic analysis. Analyzable chromosome preparations were obtained in 70 cases, of which 57 (81 %) showed only normal metaphases. In the remaining 13 cases (19%), karyotypic abnormalities were observed that were nonclonal in 3 and clonal in 10. The latter 10 cases included 6 of the nodular sclerosis subtype, 3 mixed cellularity, and 1 lymphocyte‐depleted; 8 of the specimens were obtained pretreatment and 2 posttreatment. Two of the cases had a clonal numerical aberration, monosomy 17 in one and trisomy 13 in the other, as their sole abnormality. The remaining 8 cases showed complex karyotypes with multiple structural rearrangements; in 3 of these, the abnormal clone was near‐tetraploid. Bands involved more than once included 1p36, 1q21, and 4q35, each in 2 cases. Arms involved more than once included 6q (6q13,6q23), 9p (9p13,9p21), and 5q (5q15,5q35). Three patients had loss of part or all of 6q (del(6)(q 13), del(6)(q23), i(6p)). Bands 14q32 and 18q21 were not involved in any case, contrary to some previous reports. Our results confirm the frequent occurrence of 1 p, 1 q, and 6q abnormalities in HD. In addition, we have identified a 5q35 breakpoint, which has recently been shown to be highly specific for Ki‐1 ‐positive NHL in a case of typical nodular sclerosis HD. Its presence in HD may represent a Cytogenetic link between the two entities, which are immunophenotypically related but clinically and histological

ISSN:1045-2257    

DOI:10.1002/gcc.2870030408

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

年代:1991

数据来源: WILEY

摘要:

AbstractThe i(12p) chromosome marker has been shown to be a diagnostic and prognostic marker of human male germ cell tumors (GCTs). An analysis of the i(12p) and chromosome 12 aneuploidy was performed in five primary cell cultures and three established cell lines derived from human male GCTs by fluorescence in situ hybridization (FISH) with a chromosome 12 centromere‐specific α‐satellite DNA probe. Distinct differences in the centromeric signals originating from the i(12p) and normal chromosome 12 were detected, which were found to be useful for unambiguous distinction between the i(12p) and normal chromosomes 12 at interphase as well as at metaphase in these cultures. This method can be used for rapid screening of large numbers of interphase cells, eliminating the main limitation of conventional karyotypic analysis, namely, frequent inability to obtain sufficient numbers of dividing cells in direct preparations or in short‐term culture of fresh biopsies. Our analysis of chromosome 12 centromeric signal size along with karyotypic data and results of analysis of restriction fragment length polymorphisms (RFLPs) on 12q in four GCTs suggested that the i(12p)s are formed by nonreciprocal centromeric interchanges between nonsister chromatids of homologous chrom

ISSN:1045-2257    

DOI:10.1002/gcc.2870030409

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

年代:1991

数据来源: WILEY

摘要:

AbstractThe Philadelphia1(Ph1) chromosome results from a reciprocal translocation between chromosome 9 and chromosome 22, which fuses a portion of theABLoncogene to theBCRgene, forming theBCR/ABLfusion gene. This produces a fusion protein with a greatly increased protein tyrosine kinase activity in comparison to that of the normal ABL protein. TheBCR/ABLgene is transcribed from the promoter of the normalBCRgene, but little is known about the regulation of its expression. In this study, we asked whether there are sequence‐specific DNA‐binding proteins (DBP) that bind to the breakpoint cluster region (bcr, or Mbcr) within theBCRgene. Sequence‐specific DBP located within the Mbcr could have a transcription‐regulating effect, and they could participate in the recombination that generatesBCR/ABL. Our data show that there are sequence‐specific DBP that bind within

ISSN:1045-2257    

DOI:10.1002/gcc.2870030410

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

年代:1991

数据来源: WILEY

摘要:

AbstractThe humanTP53gene is a possible tumor suppressor sinceTP53gene mutations are observed in>70% of sporadic colorectal carcinoma DNAs. In genomic DNAs from seven colon cancer cell samples, a 405 base pair DNA fragment containing exon 5, intron 5, and exon 6 of theTP53gene was amplified by polymerase chain reaction and analyzed for mutations. One sample [human colon cancer (HCC) 278] was found to have aTP53mutation altering the amino acid glutamine 167 in exon 5. A deletion of 2 bases changed glutamine 167 (CAG) to alanine (GCA) and the resulting frame‐shift produced an in‐frame stop codon at amino acid 179. While the normalTP53gene gives rise to a 53 kD protein, the estimated size of this mutant TP53 protein if expressed would be approximately 20

ISSN:1045-2257    

DOI:10.1002/gcc.2870030411

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

年代:1991

数据来源: WILEY