bluuebunny/crossref_metadata_2025_split huggingface dataset:
FGFRI and PLAT genes and DNA amplification at 8p 12 in breast and ovarian cancers
Authors: Theillet Charles , Adelaide José , Louason Geneviève , Bonnet‐Dorion Françoise , Jacquemier Jocelyne , Adnane Jalila , Longy Michel , Katsaros Dionisi , Sismondi Piero , Gaudray Patrick , Birnbaum Daniel 
Published: February 2007

AbstractSeveral chromosomal regions are found to be consistently amplified in human breast cancers. For two of these regions, 8p 12 and 10q26, we previously reported the amplification of genes encoding FGF receptors, FGFR1/FLG and FGFR2/BEK, in about 12% of breast tumors. The PLAT gene, encoding the tissue‐type plasminogen activator, is also located close to or within the 8p 12 region. In the present study, we show that both FGFR1 and PLAT can be amplified in breast as well as ovarian carcinomas. FGFR1 amplification was detected in 14.5% of breast and 7.8% of ovarian tumors, whereas PLAT was found to be amplified in 15.6% and 19.4% of the tumors, respectively. Each gene could be amplified independently of the other. These data raised the question of which gene is selected for amplification at 8p 12. In most cases, the levels of expression of FGFR1 and PLAT in breast tumors were comparable to their level of expression in normal mammary tissue. However, FGFR1 was expressed above the normal level in a certain number of cases. This gene could be a good candidate as “driver” of the 8p 12 amplification, but it cannot account for all complex molecular events taking place in this region. © 1993 Wiley‐Liss, Inc.
Chromosome painting as a supplement to cytogenetic banding analysis in non‐Hodgkin's lymphoma
Authors: Bajalica Svetlana , Sørensen Anne‐Grethe , Pedersen Niels Tinggaard , Heim Sverre , Brøndum‐Nielsen Karen 
Published: February 2007

AbstractChromosomal in situ suppression (CISS) hybridization with biotin labeled chromosome‐specific libraries was performed on short‐term cultures from five cases of non‐Hodgkin's lymphoma (NHL). The painting analysis proceeded in three stages. First‐stage CISS hybridization was done with libraries specific for chromosomes that seemed to be lost or rearranged as judged by banding analysis. Second‐stage CISS included hybridization with probes specific for chromosomes that, because of banding pattern similarities, were considered to be likely candidates to have contributed unidentified chromatin blocks in the abnormal karyotype. The third and final stage was a confirmation hybridization with a library specific for the chromosome that, at the stage two analysis, was found to have donated the previously unknown chromosomal segment. The aberrant chromosomes were often more complex than the banding analysis had led us to believe. Among the rearrangements whose nature was determined by CISS hybridization were two add(1)(p36) which, in both cases, were shown to be a der(1)t(1;2)(p36;q31). This study illustrates the potential use of chromosome painting in resolving karyotypic uncertainties in NHL, and it shows that new cytogenetic subgroups may emerge when classical banding analysis is supplemented with fluorescence in situ hybridization techniques. © 1993 Wiley‐Liss, Inc.
Tissue culture loss of aneuploid cells from carcinomas of the prostate
Authors: König Josée J. , Teubel Wilma , Van Dongen Jan Willem , Hagemeijer Anne , Romijn Johannes C. , Schröder Fritz H. 
Published: February 2007

AbstractThe frequency of aneuploid cells in cultured prostate carcinoma specimens was investigated. Ploidy distribution of the original tissue was established by flow cytometry (FCM). Fluorescence in situ hybridization (FISH) of chromosome I was applied to directly isolated and cultured cells to investigate whether any modifications in the ploidy distribution of chromosome I took place during tissue culture. In six tumor specimens that were diploid by FCM and FISH, no differences were found in the ploidy distribution of chromosome I before and after tissue culture. In eight tumors that were aneuploid by FISH, the percentage of aneuploid nuclei was significantly reduced from 28.0 ± 15.0 (range 13ndash;59%) in uncultured cells to 9.1 ± 4.4 (range 4ndash;18%) after tissue culture. The reduction of aneuploid nuclei ranged from 44 to 85%, which means that the majority of the aneuploid cell populations that were observed in the original specimens were undetectable in cultured samples. This suggests a preferential growth of normal epithelial cells. The data presented can explain the high percentage of diploid karyotypes usually found in short‐term cultured prostate carcinoma specimens. © 1993 Wiley‐Liss, Inc.
Non‐random integration of epstein‐barr virus in lymphoblastoid cell lines
Authors: Lestou Valia S. , De Braekeleer Marc , Strehl Sabine , Ott German , Gadner Helmut , Ambros Peter F. 
Published: February 2007

AbstractIn order to examine the role of Epstein‐Barr virus (EBV) in the immortalization of human 6 lymphocytes and in the pathogenesis of lymphoid malignancies, we investigated whether the EBV integration into the human genome is randomly distributed or whether the virus integrates preferentially at certain sites. Twelve in vitro immortalized human lymphoblastoid cell lines (LCLs), two in vivo infected LCLs, and one Burkitt's lymphoma cell line (EB2) were examined by non‐radioactive in situ hybridization (ISH) with a biotinylated EBV probe. Recurrent hybridization sites were detected in all 15 cell lines. The chromosomes frequently carrying the EBV genome were chromosomes 1, 2, 4, and 5. In more than 70 chromosomal bands, a greater number of integration sites than expected was found (p < 0.05). Approximately half of these bands were involved in the majority of the cell lines (for example, 1p31, 1q43, 2p22, 3q28, 4q13, 5p14, 5q12, and 11p15) whereby band 5p14 was involved in all LCLs analyzed. Virtually no viral integrations were found on the sex chromosomes (X, Y). The majority of the EBV integrations was found in G‐band‐positive material (p < 0.0001). Thus, our findings clearly show that EBV integrates into the human genome in a non‐random manner. © 1993 Wiley‐Liss, Inc.
Cloning and sequencing of a t(14;19) breakpoint that involves the Cμ switch region
Authors: Crossen Peter E. , Kennedy Martin A. , Heaton David C. , Morrison Mary J. 
Published: February 2007

AbstractThe t(14;19) is a recurring translocation found in a small number of cases of chronic B‐cell leukemia (CLL). We have cloned and sequenced the breakpoint in a patient with a t(14;19) and shown that the breakpoint on chromosome 14 occurred in the Cμ switch region, and that the breakpoint on chromosome 19 occurred in the 5′ untranslated region of the BCL3 gene. This is in contrast to all the other reported cases with a t(14;19) in which the breakpoints on chromosome 14 occurred in the Cαl or Cα2 switch region, and the breakpoints on chromosome 19 occurred upstream of the BCL3 gene. Our results further emphasize the importance of the switch region in the t(14;19) translocation. © 1993 Wiley‐Liss, Inc.
Numerical aberrations, including trisomy 22 as the sole anomaly, are recurrent in follicular thyroid adenomas
Authors: Antonini Patrick , Lévy Nicolas , Caillou Bernard , Vénuat Anne‐Marie , Schlumberger Martin , Parmentier Claude , Bernheim Alain 
Published: February 2007

AbstractShort‐term cultures from 38 follicular thyroid adenomas revealed clonal numerical and/or structural chromosomal changes in 8 tumors, nonclonal changes in I tumor, and only normal karyotypes in 29 tumors. Three cases had trisomy 22 as the sole anomaly. Two cases had a combination of trisomies for chromosomes 5, 7, 9, 12, and 16. © 1993 Wiley‐Liss, Inc.
Low frequency of mutations in the WT1 coding region in Wilms' tumor
Authors: Brown Keith W. , Wilmore Helen P. , Watson Joanne E. , Mott Martin G. , Berry P. Jeremy , Maitland Norman J. 
Published: February 2007

AbstractA series of twenty unselected Wilms′ tumors were analysed for alterations in the WT1 tumor suppressor gene. The entire coding region of WT1 was amplified by RNA‐PCR, and then screened for mutations by single‐strand conformational polymorphism analysis (SSCP). This method was shown to be capable of detecting point mutations in the WT1 gene, by using an experimentally produced mutation. A single mutation, a 226 bp intragenic deletion, was detected in a tumor from a patient with the WAGR syndrome. These results suggest that alterations in the WT1 gene may be involved in only a subset of Wilms′ tumors, and that other loci need to be investigated as potential suppressor genes in sporadic Wilms′ tumors. © 1993 Wiley‐Liss, Inc.
Expanded range of 11q13 breakpoints with differing patterns of cyclin D1 expression in B‐cell malignancies
Authors: Raynaud Sophie D. , Bekri Soumeya , Leroux Dominique , Grosgeorge Josiane , Klein Bernard , Bastard Christian , Gaudray Patrick , Simon Marie‐Pierre 
Published: February 2007

AbstractWe have analyzed the BCL1 locus in a series of 24 B‐cell tumors and cell lines with rearrangements of 11q13 (mostly t(11;14)(q13;q32) translocations). Using Southern hybridization and/or fluorescence in situ hybridization (FISH) on metaphase chromosomes, we have not only confirmed the scattering of the breakpoints between the BCL1 locus and the cyclin DI gene (CCND1), but also shown that some of the breakpoints could be as far as 500 kb on either side of the latter. Expression of CCND1 was not restricted to cases with t(11;14)(q13;q32), but was also associated with other 11q13 rearrangements, such as a t(8;11)(p22;q13). Whatever the alteration at 11q13, a correlation was observed between the expression of CCND1 and the presence of a breakpoint within 150 kb upstream of the gene. On the contrary, three samples, including a bona fide t(11;14) translocation and two cases with breakpoints located outside the BCL1‐CCND1 area, did not exhibit detectable levels of CCND1 transcripts. Our results raise the possibility that several discrete molecular events can take place at 11q13 in B‐cell malignancies. © 1993 Wiley‐Liss, Inc.
Three non‐overlapping regions of chromosome arm 11p allele loss identified in infantile tumors of adrenal and liver
Authors: Byrne Jennifer A. , Simms Lisa A. , Little Melissa H. , Algar Elizabeth M. , Smith Peter J. 
Published: February 2007

AbstractTumor and constitutional chromosome arm 11p genotypes were compared in 6 hepatoblastoma (HB) patients and 2 adrenal adenoma (AA) patients, with one HB patient and both AA patients displaying clinical features associated with the Beckwith‐Wiedemann syndrome (BWS). Using up to 14 chromosome 11 polymorphic markers, loss of constitutional heterozygosity (LOH) was demonstrated in both AA patients and in 4 of 6 HB patients. This identified three distinct and non‐overlapping regions of 11p within which LOH occurred, which were defined as lying distal to the gamma‐globin locus (11p15.5), proximal to the gamma‐globin locus but distal to 11p13 (LOH being detected at 11p15.1), and restricted to the 11p13 region. Specific LOH within each 11p15 region was observed in HB, and this represents the first demonstration by a single study of LOH clearly affecting separate regions of chromosome band 11p15 in a particular tumor type. One AA showed LOH restricted to 11p13 loci, implicating the involvement of the WT1 gene. The second AA patient presented with genitourinary abnormalities and we therefore examined sequences coding for 3 zinc finger domains of WT1 in both AAs. No point mutations were identified in sequence from either patient. Nonetheless our results indicate that 3 separate 11p loci may be significant in the development of tumors which arise in association with BWS. © 1993 Wiley‐Liss, Inc.
Direct visualization of the transposed ABL gene in a duplicated masked Ph chromosome
Authors: Macera M. J. , Szabo P. , Lin J. H. , Desalvo A. T. , Shah H. O. , Verma R. S. 
Published: February 2007

AbstractIn a small percentage of cases of chronic myelogenous leukemia (CML), where the Ph chromosome is masked because of highly complex translocations and sub‐microscopic rearrangements, precise identification of chromosomal aberrations by routine banding techniques has been difficult. We report on a new case of CML in which a single copy of a masked Ph chromosome was duplicated during blast crisis, i.e., the karyotype was 47,XY, dir ins(22;9)(q11;q34.1q34.2),t(1;22) (q21;q11), + der (22)t(1;22)(q21;q11). The chromosome in situ suppression hybridization (CISS) technique with whole chromosome 1 and 22 specific painting probes demonstrated that 22q11‐qter had been translocated to lq21, whereas 22q11 was the recipient of Iq21‐qter. Furthermore, a cosmid probe identified the location of the ABL gene on only one chromosome 9 (band q34). The other ABL gene could be detected on both derivative chromosomes 22 at band q11 which was flanked by the translocated part of the long arm of chromosome I, thus providing direct visualization of the ABL insertion in a double masked Ph chromosome. A breakpoint within the 5.8 kb major breakpoint cluster [M‐BCR] region was shown by Southern blotting. © 1993 Wiley‐Linc, Inc.
Rearrangement of 12q14‐15 in pulmonary chondroid hamartoma
Authors: Cin Paola Dal , Kools Patrick , De Jonge Inge , Moerman Phillippe , Van De Ven Wim , Van Den Berghe Herman 
Published: February 2007

AbstractCytogenetic analysis of a pulmonary chondroid hamartoma showed an inv(12)(p13q14‐15) as the sole abnormality. This finding together with previously reported data is an indication that the 12q14‐15 region may be nonrandomly involved in the pathogenesis of this tumor type. © 1993 Wiley‐Liss, Inc.
Mapping of the 19p13 breakpoint in an ovarian carcinoma between the INSR and TCF3 Loci
Authors: Åman Pierre , Pejovic Tanja , Wennborg Anders , Heim Sverre , Mitelman Felix 
Published: February 2007

AbstractChromosome rearrangements involving band 19p13 have been described in about half of all ovarian carcinomas. Four ovarian carcinomas with translocations of 19p13 were investigated with 11 DNA probes for markers localized to this band. All markers exhibited normal restriction patterns, suggesting that they were not rearranged. The 19p13 breakpoint of one tumor was mapped to a location between the INSR and the TCF3 loci. © 1993 Wiley‐Liss, Inc.
BCNU‐resistant human glioma cells with over‐representation of chromosomes 7 and 22 demonstrate increased copy number and expression of platelet‐derived growth factor genes
Authors: Scheck Adrienne C. , Mehta Bipin M. , Beikman Melanie K. , Shapiro Joan Rankin 
Published: February 2007

AbstractWe used standard karyotypic analyses of first‐division cells to identify a subpopulation of cells in primary malignant gliomas with over‐representation of chromosomes 7 and 22. These cells are a minor subpopulation in the primary tumor but become the dominant population after treatment in vitro of the cells with the chemotherapeutic agent 1,3‐bis(2‐chloroethyl)‐1‐nitrosourea (BCNU). The selection for a cell with this specific karyotypic abnormality suggests that these chromosomes contain genes important to the growth of BCNU‐resistant cells. Southern blot hybridization analyses demonstrate an increased copy number of the genes encoding platelet‐derived growth factor (PDGF) A‐chain and B‐chain, which have been mapped to chromosomes 7 and 22, respectively. Reverse transcription followed by polymerase chain reaction (RT‐PCR) analysis demonstrates increased expression of these genes. In addition, these cells secrete a mitogenic factor that stimulates 3H‐thymidine uptake in NIH 3T3 cells. This factor is sensitive to anti‐PDGF antibodies and β‐mercaptoethanol, but not to anti‐EGF antibodies. These data suggest that autocrine and/or paracrine mechanisms occur in human malignant gliomas, and that over‐expression of PDGF may play a role in the growth of BCNU‐resistant cells in these tumors. © 1993 Wiley‐Liss, Inc.
Extrachromosomal gene amplification in acute myeloid leukemia; Characterization by metaphase analysis, comparative genomic hybridization, and semi‐quantitative PCR
Authors: Mohamed A. N. , Macoska J. A. , Kallioniemi A. , Kallioniemi O.‐P. , Waldman F. , Ratanatharathorn V. , Wolman S. R. 
Published: February 2007

AbstractA case of acute myeloid leukemia (M‐3) with complex karyotypic aberrations and double minute (dmin) chromosomes is presented. The patient had no history of prior exposure to mutagenic or carcinogenic agents or of other malignancies. She died from CNS involvement six weeks after the initial diagnosis. We used comparative genomic hybridization to identify the amplified sequences presumed to represent the dmin of the leukemic cells; the tumor/normal ratios indicated increased signal intensity at 8q24. This localization prompted investigation by semi‐quantitative PCR that revealed amplification of the MYC oncogene. The extent of chromosome aberrations and the oncogene amplification, both linked with poor prognosis, may relate to the rapid course of this patient's disease. © 1993 Wiley‐Liss, Inc.
Variant translocations of chromosome 22 in Ewing's sarcoma
Authors: Squire Jeremy , Zielenska Maria , Thorner Paul , Tennyson Shan , Weitzman Sheila , Pai K. Mohan , Yeger Herman , Ng Y‐Kwan , Weksberg Rosanna 
Published: February 2007

AbstractRelatively few variant translocations have been reported in primary Ewing's sarcomas (ES). We report two new variant translocations, both of which involve chromosomal rearrangements of 22q12. Cytogenetic studies of tumor cells from a 12‐year‐old girl revealed a variant translocation, t(7;22)(p22;q12), the second example reported of a simple variant of the 22q12 reciprocal translocation in this type of sarcoma. The identity of this rearrangement was confirmed by in situ hybridization. In addition, a complex translocation was identified in a dysmorphic 15‐year‐old girl, t(4;11;22)(q21q24;q12). No previous cases of variant translocations in ES have involved band 7p22 or 4q21, and there are no previous reports of an association between congenital abnormalities and unusual karyotype abnormalities in ES. Both variant translocations conserve the junction on the der (22), providing additional cytogenetic evidence that the sequences on chromosome 22 are critical. © 1993 Wiley‐Liss, Inc.
Whole chromosome 17 loss in ovarian cancer
Authors: Tavassoli Mahvash , Ruhrberg Christiana , Beaumont Vicky , Reynolds Karina , Kirkham Nigel , Collins William P. , Farzaneh Farzin 
Published: February 2007

AbstractChromosomal deletions, associated with the loss of normal function of tumour suppressor genes, have been identified in a variety of both familial and sporadic human cancers. Although the molecular pathology of ovarian cancer is not understood, several studies have reported deletions in chromosome 17 in ovarian tumours. We have used 13 restriction site polymorphic, microsatellite, and variable number tandem repeat markers to make a detailed analysis of chromosome 17 deletions in 12 benign and 19 malignant ovarian tumours. Two benign and 11 malignant tumours were informative for at least one marker on each arm of the chromosome. Loss of heterozygosity (LOH) was detected in both arms (by all informative markers) in 5 malignant tumours from four women (three with the disease at FIGO stage la). In a further bilateral ovarian tumour a partial LOH affecting 17q22‐q25 was present in one ovary only. By contrast to a number of previous studies, none of the 19 malignant and 12 benign tumours showed ERBB2 (17q12ndash;22) amplification. The data presented show that the loss of a whole copy of chromosome 17 is a frequent and relatively early event in the development of some ovarian cancers. This suggests the possible involvement of multiple chromosome 17 loci in the pathogenesis of ovarian cancer. Equally plausible is that the loss of a whole chromosome copy could be the product of chromosomal instabilities induced by loss of the normal allele of tumour suppressors, such as TP53, located on this chromosome. © 1993 Wiley‐Liss, Inc.
Deletion of 3p25→pter in a primary follicular thyroid carcinoma and its metastasis
Authors: Roque Lúcia , Castedo Sérgio , Clode Ana , Soares Jorge 
Published: February 2007

AbstractWe report the cytogenetic analysis of a follicular thyroid carcinoma and its bone metastasis. Both lesions had identical chromosomal abnormalities, with a der(3)t(2;3)(q13;p25) as the most likely primary clonal alteration. Our findings corroborate previous observations of frequent 3p deletions in thyroid follicular carcinomas and suggest that the minimal chromosomal region of loss in these tumors is 3p25→pter. © 1993 Wiley‐Liss, Inc.
Molecular mapping of the chromosome 11 breakpoint of t(11;17)(q13;q21) in a t(11;14)(q13;q32)‐positive B non‐Hodgkin's lymphoma
Authors: Wlodarska Iwona , Schoenmakers Eric , Kas Koen , Merregaert Jozef , Lemahieu Vanessa , Weier Ulli , Berghe Herman Van Den , Van De Ven Wim J. M. 
Published: February 2007

AbstractThe FAU gene is the cellular homologue of the viral FOX sequences in the genome of the Finkel‐Biskis‐Reilly murine sarcoma virus (FBR‐MuSV); the viral FOX sequences have been shown to increase the transforming capacity of FBR‐MuSV in vitro. The human FAU gene has recently been isolated, characterized, and mapped to chromosome band 11q13. Here, we report results of fluorescence in situ hybridization (FISH) analysis which indicate that the FAU gene maps proximally to the putative oncogene BCL1 at 11q13. Furthermore, we identified a t(11;17)(q13;q21) translocation in tumor cells of a t(11;14)(q13;q32)‐positive B‐cell non‐Hodgkin's lymphoma patient by FISH analysis using a FAU containing cosmid clone as molecular probe and by double‐colour chromosome painting analysis using chromosome 11‐ and chromosome 17‐specific painting probes. The position of the chromosome 11 breakpoint of the t(11;17) translocation was pinpointed to a human DNA region around the FAU gene of about 40 kbp. © 1993 Wiley‐Liss, Inc.
Cytogenetic findings in malignant triton tumor
Authors: Travis Joni A. , Bridge Julia A. , Neff James R , Sandberg Avery A. 
Published: February 2007

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‐Liss, Inc.
Loss of chromosome band 8q24 in sporadic osteocartilaginous exostoses
Authors: Mertens Fredrik , Helm Sverre , Mitelman Felix , Mandahl Nils , Rydholm Anders , Kreicbergs Andris , Willén Helena , Jonsson Kjell 
Published: February 2007

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‐Liss, Inc.