摘要:

AbstractMalignant triton tumor is a rare histologic variant of malignant schwannoma that shows both neural and skeletal muscle differentiation. In this study, cytogenetic analysis of a recurrent malignant triton tumor of the forearm from a 26‐year‐old female and a primary paraspinal malignant triton tumor from a 27‐year‐old female revealed complex karyotypes displaying multiple numercial and structural abnormalities. Abnormalities shared by both tumors included three copies of chromosome 22 and structural rearrangements of chromosomes 2, 7, and 21 at identical or closely located breakpoints.Genes Chrom Cancer 9:1‐7 (1994).© 1994 Wiley

ISSN:1045-2257    

DOI:10.1002/gcc.2870090102

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe have karyotyped eight sporadic osteocartilaginous exostoses (OCE), a tumor type not characterized cytogenetically before. Five tumors had only normal karyotypes, whereas three displayed the following abnormal karyotypes: 46,XY,del(8)(q24.1); 46,XX,del(8)(q22), t(8;14)(q24. 1;q32); and 46,XY,der(8)t(1;8)(q21;q24), inv(12)(p1 1q13). All three aberrant cases thus had structural rearrangements leading to loss of the distal part of 8q. This is of particular interest because multiple OCE are part of the disease phenotype in patients with the autosomal dominant tricho‐rhino‐phalangeal syndrome type II (TRP II), many of whom have constitutional loss of genetic material from 8q24.1. We hypothesize that band 8q24.1 harbors a tumor suppressor gene, the homozygous inactivation of which is important in the genesis of both inherited and sporadic OCE. In the familial form, i.e., in TRP II, loss or functional inactivation of one allele is inherited and only the second mutation is due to a somatic event, whereas both mutations are somatic in the sporadic forms. This hypothesis can be tested by analysis of sporadic and inherited OCE for homozygous loss of 8q24 material with molecular genetic techniques.Genes Chrom Cancer 9:8‐12 (1994).©1994 Wiley‐L

ISSN:1045-2257    

DOI:10.1002/gcc.2870090103

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

年代:1994

数据来源: WILEY

摘要:

AbstractAlthough abnormalities of chromosome 6 have frequently been observed in Burkitt's lymphoma (BL), they have 50 far not been defined by modern cytogenetic and molecular methods. By a combination of high‐resolution chromosome banding, fluorescence in situ hybridization (FISH), and loss of heterozygosity (LOH) analysis, we have examined the nature of aberrations affecting chromosome 6 in 7 previously established BL cell lines. All cell lines exhibited the characteristic translocations associated with BL; 5 had t(814)(q24;q32) and 2 had t(8;22)(q24;q11). Three cell lines had deletions of 6q; 3 others had rearrangements affecting 6q, whereas one cell line had apparently normal chromosomes 6. FISH analysis of the three deletions established that they were interstitial. LOH analysis with probes mapped to the 6q26‐27 region confirmed the sub‐telomeric interstitial deletion in cell line BL‐108, which had a del(6)(q23q27). All informative loci mapped to 6q26‐27 (5/7) were deleted in BL‐74, which had no apparent cytogenetic abnormality in chromosome 6, thus documenting a sub‐microscopic deletion. These data define the cytogenetic and molecular limits of 6q deletions in BL and are consistent with our previous demonstration of LOH analysis of the site of a candidate tumor suppressor gene in the 6q25‐27 region.Genes Chrom Cancer 9:13‐18 (1994).©19

ISSN:1045-2257    

DOI:10.1002/gcc.2870090104

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe used the fluorescence in situ hybridization (FISH) method to show that chromosome 7 trisomy is associated with the progression of human prostate cancer. Thirty‐six specimens including 15 primary prostate carcinomas, 16 metastatic lesions, and 5 normal prostate tissues, as well as 2 prostate carcinoma cell lines of different tumorigenic potential, were examined for chromosome 7 aneuplaidy. Our results showed that the androgen‐unresponsive tumorigenic cell line PC‐3 exhibited a significantly higher ratio of chromosome 7 to total chromosome number than the androgen‐responsive nontumorigenic cell line LNCaP (P = 0.001). In prostate specimens, the frequency of trisomy 7 cells was significantly increased (P<0.05) in the advanced stage tumors (C and D1) but not in the early (6) stage tumors or normal prostatic tissue. Furthermore, metastases showed a higher frequency of trisomy 7 cells than primary tumors (P = 0.005). In 2 patients with paired primary and metastatic tumors, trisomy 7 cells increased from 4‐7% in the primary tumors to 42‐45% in the metastatic tumor cells in the bone marrow. Therefore, our data suggest that trisomy 7 may be a common feature associated with local and metastatic progression and serve as a novel marker for human prostate cancer progression. Genes Chrom Concer 9:/9‐27 (1994). © 1994 W

ISSN:1045-2257    

DOI:10.1002/gcc.2870090105

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

年代:1994

数据来源: WILEY

摘要:

AbstractThe C4‐1 cell line derived from a non‐keratinizing squamous cell carcinoma of the uterine cervix contains integrated human papillomavirus‐18 DNA. Fluorescence in situ hybridization of C4‐1 cells demonstrated a single viral integration site at 8q22.1 on a derivative chromosome originating from an 8q; 12q translocation. 8q22 is a site of chromosome fragility and is also recombinogenic in several human malignancies. DNase I hypersensitivity of the integration site was studied with a cellular flanking probe. A hypersensitive site was detected within 3 kb from viral DNA. The integration sites are undermethylated in C4‐1 and HeLa cells and fully methylated in tumor cell lines of other origin, such as lymphoid cells.Genes Chrom Cancer 9:28‐32 (1994).© 1994 Wil

ISSN:1045-2257    

DOI:10.1002/gcc.2870090106

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

年代:1994

数据来源: WILEY

摘要:

AbstractA deletion mapping analysis of chromosome 9 has been performed on a series of 75 samples derived from malignant gliomas. A total of 27 tumors displayed different deletions for the loci studied (D9S1,NRASL1, D9S18,IFNA, and IFNB1). In most instances, losses involving the markers located on the short arm of chromosome 9 were observed, and only two samples were characterized by losses of the short and long arms. Either partial or complete homozygous deletions of IFN genes were observed in 15 cases, and 12 other samples showed hemizygous deletions for these genes. The results show that the 9p abnormalities are not exclusive to high‐grade astrocytic tumors, as some low‐grade samples (two astrocytomas grade II and six oligodendrogliomas) displayed this anomaly which, in a few instances, was the sole abnormality detected.Genes Chrom Cancer 9:33‐41 (1994).© 1994 Wiley‐L

ISSN:1045-2257    

DOI:10.1002/gcc.2870090107

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

年代:1994

数据来源: WILEY

摘要:

AbstractIn an attempt to verify the nature of amplification events at band q13 on chromosome 11 we surveyed the amplification status of ten molecular markers specific for this region (GSTP,SEA, D11S97, D11S146, BCLI,PRAD1/CCND1,HST/FGF4, INT2/FGF3,EMS1, and D11S833E) in a panel of 389 primary breast carcinoma DNA samples. Eighty‐eight tumors (23%) showed at least one of these markers amplified, but in a majority of the cases amplification encompassed more than one of the tested loci. Our data confirm that amplicons at 11q13 can cover large portions of DNA and are consistent with the existence of several cores of amplification. One important core seems to be, as previously described, centered aroundPRAD1/CCND1; 57 tumors (14.7%) showed amplification atPRAD1/CCND1either alone (one tumor) or along with amplification ofBCL1orINT2/FGF3.The level of amplification ofPRAD1/CCND1sometimes exceeded that of surrounding markers. Three additional amplification events occurring independently of amplification ofPRAD1/CCND1were also detected. Centromeric toBCL1, probes to D11S97, and D11S146 detected amplification in 60 tumors (15.4%) and were often the only amplified markers. Telomeric toINT2/FGF3, D11S833E was found amplified alone in ten tumors, and it was the most amplified marker in another six cases. At a shorter distance ofINT2/FGF3, EMS1was the only amplified marker in two tumors, with a level of amplification that could exceed that ofPRAD1/CCND1and D11S833E. Our data thus suggest the existence of four independent amplified regions within band 11q13 in breast cancer.Genes Chrom Cancer 9:42‐48 (1994).© 1994 Wiley‐Lis

ISSN:1045-2257    

DOI:10.1002/gcc.2870090108

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

年代:1994

数据来源: WILEY

摘要:

AbstractThe translocation t(15;17) associated with acute promyelocytic leukemia (APL) results in fusion of the retinoic acid receptor alpha (RARA) gene on chromosome 17 with the putative transcription factor gene,PML, on chromosome 15. We report three cases of APL with complex cytogenetic translocations and five cases with atypical phenotypic features with rearrangements within or adjacent to the second intron of theRARAgene. Two patients demonstrated three‐way translocations involving chromosomes 3, 15, and 17, but with differing breakpoints on the short arm of chromosome 3. A third patient developed a complex karyotype at the time of third relapse, but with no change inRARAandPMLgene rearrangement pattern. Three patients had normal karyotypes; however, only small numbers of cells could be analyzed. One patient's leukemic cells expressed the T‐cell‐associated antigen CD2 and revealed T‐cell receptor β and γ gene rearrangements. The localization of breakpoints to the second intron of theRARAgene in cytogenetically and phenotypically atypical cases provides additional support for a requisite role of thePML/RARAfusion gene in the pathogenesis of APL.Genes Chrom Cancer 9:49‐56 (1994).© 1994 Wil

ISSN:1045-2257    

DOI:10.1002/gcc.2870090109

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

年代:1994

数据来源: WILEY

摘要:

AbstractA detailed cytogenetic map was constructed around the chromosomal breakpoint of t(8;13) observed in a patient with multiple exostoses. The order of seven loci defined by cosmid clones mapped to 8q23 was determined by means of two‐color fluorescence in situ hybridization (FISH) on elongated prophase chromosomes, and localizations of these markers relative to the breakpoint were examined. The results indicated that loci defined by cC18‐553 and cC18‐1512 flank the breakpoint. By pulsed‐field gel electrophoresis of DNA digested with BssH11 and Southern hybridization with cC18‐1512, DNA from the patient showed a band which was not observed in DNA isolated from either parent. As the normal size of this BssH11 fragment is 600 kb, the chromosomal breakpoint probably lies less than 600 kb away from cC18‐1512.Genes Chrom Cancer 9:57‐61 (1994).© 1994 W

ISSN:1045-2257    

DOI:10.1002/gcc.2870090110

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

年代:1994

数据来源: WILEY

摘要:

AbstractCytogenetic and molecular studies were performed on two dmin‐bearing acute myelogenous leukemia (FAB‐M2) samples. Both cases were characterized by complex karyotypes containing interstitial deletions of the long arm of chromosome 8 altering band 8q24.1, aberrations affecting the short arm of chromosome 17, and multiple double minute chromosomes (dmin). Using a 1.4 kb cDNA probe coding for the third exon of theMYConcogene, DNA slot blots indicatedMYCgene sequences were amplified in both samples. Fluorescence in situ hybridization using a 9.0 kb genomic probe forMYCwas performed in one we and localized the amplifiedMYCgene sequences to the dmin. Neither patient achieved a complete remission using traditional induction chemotherapy. The complex karyology with amplification ofMYCgene sequences appears to represent a poor prognostic subgroup of acute myelogenous leukemia.Genes Chrom Cancer 9:62‐67 (1994).© 1994 Wiley‐L

ISSN:1045-2257    

DOI:10.1002/gcc.2870090111

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

年代:1994

数据来源: WILEY