bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extrachromosomal amplification of the epidermal growth factor receptor gene in a human colon carcinoma cell line
Authors: Dolf Gaudenz , Meyn Raymond E. , Curley Dennis , Prather Norman , Story Michael D. , Boman Bruce M. , Siciliano Michael J. , Hewitt Roger R. 
Published: February 2007

AbstractIn situ hybridization, using a biotinylated cDNA probe for the epidermal growth factor receptor (EGFR) gene, indicates that the amplified EGFR genes in the colon tumor cell line, DiFi, are localized in many small double minute chromosomes (dmin) of varying size and visibility. Analysis of the electrophoretic mobility of γ‐irradiated DNA from DiFi by pulsed‐field gel electrophoresis and Southern blot hybridization using EGFR probe, indicates that the amplified EGFR in DiFi exists in extrachromosomal, covalently closed circular episomes, presumably equivalent to dmin. Two major and one minor species were observed which had estimated sizes of 650, 1,300, and 2,000 kb, respectively. The DiFi cell line appears to represent a unique case of extrachromosomal EGFR gene amplification in human cells.
Chromosome 16 abnormalities associated with myeloid malignancies
Authors: Campbell Lynda J. , Challis Jacqueline , Fok Thomas , Garson O. Margaret 
Published: February 2007

AbstractTwenty‐six patients who had cytogenetic analyses performed for myeloid malignancies at St. Vincent's Hospital over a 6‐year period were found to have an inversion abnormality of chromosome 16 (25 patients) or t(16; 16) (I patient). Only 16 patients had all the features of M4Eo, while the other 10 patients had diagnoses of M2, M4, M5, RAEB, and RAEB‐T; six of these had abnormal eosinophils. Thus, abnormal eosinophils were present in 22 of 26 patients (85%). Thirteen patients had additional cytogenetic abnormalities at diagnosis, the commonest being +8 in 5, del(7q) in 4, and +21 in 3. Twenty‐three patients received chemotherapy and 20 (87%) achieved complete remission. The median survival of the treated group was 188 weeks with a 61% 2‐year and 45% 5‐year survival. No significant difference in survival was observed between those patients with a diagnosis of M4Eo and those with other diagnoses suggesting that it is the abnormality of chromosome 16 which confers an improved prognosis. Additional cytogenetic abnormalities present at diagnosis did not affect prognosis. CNS relapse was observed in only two patients (8%), thus indicating no increased incidence of this complication. This study supports the premise that a chromosome abnormality involving 16p13 and 16q22 defines a good prognosis subset of myeloid leukemia despite morphological variations.
Molecular and cytogenetic analysis of tumors in von recklinghausen neurofibromatosis
Authors: Glover Thomas W. , Stein Constance K. , Legius Eric , Andersen Lone B. , Brereton Anne , Johnson Susan 
Published: February 2007

AbstractVon Recklinghausen neurofibromatosis (NFI) is a common autosomal dominant disorder mapped to 17q 11.2 and typically characterized by the occurrence of neural crest‐derived tumors. The gene has recently been cloned using reverse genetics or “positional cloning” approaches. Its function, however, remains unknown. We have performed cytogenetic and molecular analyses on 9 malignant tumors from NFI patients to look for loss of alleles or chromosome rearrangements involving chromosome 17 to test the hypothesis that the NFI gene acts as a recessive “tumor suppressor” gene. Loss of alleles on this chromosome was detected for 3 of 9 malignant tumors. Two peripheral nerve sheath tumors showed allele loss at informative loci on both the long and short arms of chromosome 17. In contrast, a glioblastoma with focal gliosarcoma showed loss of heterozygosity on the short arm of chromosome 17 only, and not at loci on the long arm. One nerve sheath tumor was previously shown by direct sequence analysis to have a point mutation at the TP53 locus at 17p 13. These data support a role for the TP53 gene or other genes on the short arm of chromosome 17 in at least some malignancies in NFI. Six other neurofibrosarcomas showed no allele loss at informative loci on chromosome 17. Cytogenetic analysis was performed on 7 tumors, including 2 with allele loss. The two tumors with allele loss showed abnormal karyotypes while all others were normal. Southern blot and pulsed‐field gel analysis using probes within or closely linked to the NFI locus detected no gross deletions or rearrangements in the tumors studied. These data, together with those of others, show that loss of alleles on chromosome 17 in malignant tumors from NF I patients occurs in some tumors, but is not a consistent finding. Possible explanations for these findings in relation to NFI gene function are discussed.
Interphase cytogenetics of brain tumors
Authors: Arnoldus Edo P. J. , Noordermeer Inge A. , Peters A. C. Boudewijn , Voormolen Joan H. C. , Bots Gerard T. A. M. , Raap Anton K. , Ploeg Mels Van Der 
Published: February 2007

AbstractThe development and application of a procedure for interphase cytogenetics on brain tumor material is described. Nuclei isolated from freshly removed brain tumor tissue were investigated for chromosomal aberrations by nonradioactive in situ hybridization with a panel of chromosome‐specific probes. The panel consisted of nine satellite DMA probes specific for the centromeric regions of chromosomes 1, 6, 7, 10, 11, 17, 18, X, and Y. For each probe, the number of hybridization signals per cell was determined in 200 nuclei. It was inferred from the hybridization results that in 11 gliomas (seven astrocytomas grade II‐IV, three oligodendrogliomas, and one ependymoma) the numerical aberrations were gains of chromosomes 1 (once), 7 (twice), 10 (once), 11 (twice), and X (twice); losses of chromosomes 1 (once), 10 (twice), 17 (twice), and Y (once); and complete tetraploidy (once). Among the 18 investigated meningiomas monosomy 18 and trisomy 17 were observed once and twice, respectively. An additional hybridization with a cosmid probe for the BCR gene on 22q 11 indicated monosomy 22q in 11 meningiomas. These results show the value of interphase cytogenetics for the analysis of solid tumors for which it is relatively difficult to obtain sufficient metaphases of good quality for conventional cytogenetics.
Microdissection of chromosome band 11 p 15.5: Characterization of probes mapping distal to the HBBC locus
Authors: Newsham Irene , Claussen Uwe , Lüdecke Hermann‐Josef , Mason Michelle , Senger Gabriele , Horsthemke Bernhard , Cavenee Webster 
Published: February 2007

AbstractBoth cytogenetic and molecular genetic analyses of the 11 p 15.5 subband suggest it may contain loci important in the genesis of a wide variety of tumors such as rhabdomyosarcomas and Wilms' tumors as well as the congenital tumors associated with the Beckwith‐Wiedemann syndrome. As a first step in further defining the involvement of this chromosomal region in these various maladies, a library was constructed from the specific microdissection of chromosomal fragments representing 11p 15.5‐pter. Of 98 microclones analyzed, 31 identified single copy human DNA sequences, 21 of which mapped to 11 p 15.5 while 10 mapped proximal to the HBBC locus. Five of the 11 p 15.5‐positioned microprobes detected restriction fragment length polymorphisms at their homologous genomic loci for various enzymes. These microprobes are now being utilized in several ways in order to address the underlying basis of the Beckwith‐Wiedemann syndrome and its associated tumors.
Structural Alterations in the 5′ Region of the BCL2 Gene in Follicular Lymphomas With BCL2‐MBR or BCL2‐MCR Rearrangements
Authors: Mikraki Vasiliki , Ladanyi Marc , Chaganti R. S. K. 
Published: February 2007

AbstractWe report a new class of molecular lesions in the 5′ region of the BCL2 protooncogene when it undergoes a t(14;18) translocation‐associated rearrangement in the major break cluster (MBR) or minor break cluster (MCR) regions. Among 52 tumors assayed for BCL2 rearrangements using the MBR, MCR, and 5′ probes, seven (six with MBR and one with MCR translocation breaks) showed aberrant bands in unique enzyme digests of DNA hybridized with the 5′ probe. The aberrant bands in four tumors were in HindIII digests, in two they were in EcoRI digests, while the aberrant band in one was in a BamHI digest. The two EcoRI bands and two of the four HindIII bands were of identical sizes. Germline polymorphisms as the source of these bands was ruled out by appropriate control experiments. These results suggest that the bands were derived from point mutations or small deletions in the 5′ region of BCL2. The significance of this alteration to BCL2 function in translocation‐carrying tumors remains to be determined.
Molecular assignment of a translocation breakpoint in acute myeloid leukemia with t(8;21)
Authors: Shimizu Kimiko , Ichikawa Hitoshi , Miyoshi Hiroyuki , Ohki Misao , Kobayashi Hirofumi , Maseki Nobuo , Kaneko Yasuhiko 
Published: February 2007

AbstractAn 8;21 translocation is a common chromosome abnormality associated with acute myeloblastic leukemia with maturation (M2 of French‐American‐British (FAB) classification). We have isolated chromosome 21 Notl linking clones; pulsed field gel electrophoresis analysis with one clone (LL263) detected an altered fragment of Notl‐digested leukemic cell DNA carrying t(8;21). The altered fragment was shown to be produced by the 8;21 translocation. The breakpoint in chromosome 21 was located about 13 kb to 100 kb proximal to the LL263 Nod site. Because the LL263 clone has a CpG island and is a short distance from the breakpoint, the clone itself may be considered as a candidate for part of the t(8;21 ) associated gene.
Localization of the HST/FGFK gene with regard to 11 q 13 chromosomal breakpoint and fragile site
Authors: Hagemeijer Anne , Lafage Marina , Mattei Marie‐Geneviève , Simonetti Jacqueline , Smit Elizabeth , De Lapeyriere Odile , Birnbaum Daniel 
Published: February 2007

AbstractThe HST/FGFK gene, a member of the fibroblast growth factor gene family and a protooncogene, is localized on chromosomal band 11 q 13. Genes in this region are frequently involved in hematopoietic and solid tumors. Here we show that the HST gene lies telomeric to the BCLI gene, the t(l I;14)(q13;q32) breakpoint, and the FRAIIA rare fragile site.
11p Deletions and breakpoints in squamous cell carcinoma: Association with altered reactivity with the UM‐E7 antibody
Authors: Bradford Carol R. , Kimmel Kathryn A. , Van Dyke Daniel L. , Worsham Maria J. , Tilley Barbara J. , Burk David , Rosario Fernando Del , Lutz Stephen , Tooley Richard , Hayashida Diana J. S. , Carey Thomas E. 
Published: February 2007

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 log10 50% 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 of 11 p 13‐p 14.
Detection and analysis of origin of i(12p), a diagnostic marker of human male germ cell tumors, by fluorescence in situ hybridization
Authors: Mukherjee Asit B. , Murty V. V. V. S. , Rodriguez Eduardo , Reuter Victor E. , Bosl George J. , Chaganti R. S. K. 
Published: February 2007

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 chromosomes.
Sequence‐specific DNA‐binding proteins within the Mbcr on the ph1 chromosome
Authors: Leibowitz David , Young Katherine , Cox Gregory 
Published: February 2007

AbstractThe Philadelphia1 (Ph1) chromosome results from a reciprocal translocation between chromosome 9 and chromosome 22, which fuses a portion of the ABL oncogene to the BCR gene, forming the BCR/ABL fusion gene. This produces a fusion protein with a greatly increased protein tyrosine kinase activity in comparison to that of the normal ABL protein. The BCR/ABL gene is transcribed from the promoter of the normal BCR gene, 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 the BCR gene. Sequence‐specific DBP located within the Mbcr could have a transcription‐regulating effect, and they could participate in the recombination that generates BCR/ABL. Our data show that there are sequence‐specific DBP that bind within the Mbcr.
TP53 Gene Mutations and 17p Deletions in Human Astrocytomas
Authors: Chung Richard , Whaley Jean , Kley Nikolai , Anderson Kirstin , Louis David , Menon Anil , Hettlich Claudia , Freiman Richard , Hedley‐Whyte E. Tessa , Martuza Robert , Jenkins Robert , Yandell David , Seizinger Bernd R. 
Published: February 2007

AbstractAstrocytomas, including the most malignant form, glioblastoma multiforme, are the most frequent and deadly primary tumors of the human nervous system. Recent molecular genetic analyses of astrocytomas have demonstrated frequent chromosome 17 deletions involving the telomeric region of the short arm ( 17p 12‐pter). This region contains a candidate tumor suppressor gene, TP53, which has recently been implicated in the etiology of a broad array of human cancers. To study the possible role of TP53 in astrocytoma development, 24 randomly chosen human astrocytic tumors were examined for genomic TP53 sequence aberrations using primer‐directed DNA amplification in conjunction with direct sequencing. Five of the 11 grade III astrocytomas (glioblastoma multiforme), but only one of seven grade II astrocytomas (anaplastic astrocytoma) and none of either the grade I astrocytomas or oligodendrogliomas demonstrated distinct point mutations involving the TP53 gene. These data suggest that TP53 mutations may play a role in astrocytoma development and are predominantly associated with higher grade tumors.
DNA Methylation Changes in the IL‐I (2F) Chromosomal Region of Some Radiation‐Induced Acute Myeloid Leukaemias Carrying Chromosome 2 Rearrangements
Authors: Silver Andrew , George Andrew , Masson Walter , Breckon George , Adam Julie , Cox Roger 
Published: February 2007

AbstractAcute myeloid leukaemias (AML) arising in irradiated CBA/H mice frequently have breakpoints in the F region of chromosome 2. The closely linked cytokine genes interleukin (IL)‐l α and β map to this region, and the β gene is deregulated in some AMLs. Using pulsed‐fleld gel electrophoresis techniques, we show here that an 800 kb 2F region encoding IL‐l α and β is not obviously rearranged in six leukaemias carrying chromosome 2 abnormalities. However, changes in IL‐I region DNA methylation in three leukaemias may be consistent with loss of hypermethylated sequences from one chromosome copy. These possible 2F region losses are discussed in relation to genomic imprinting and its potential role in murine myeloid leukaemogenesis.
Analysis of Chromosome Band Ip36 Alterations by Chromosomal In Situ Suppression Hybridization With a Microclone DNA Bank
Authors: Zink Daniele , Weith Andreas , Martinsson Tommy , Schwab Manfred 
Published: February 2007

AbstractAlterations of the distal portion of chromosome 1p are a recurrent abnormality of several types of human cancer. In this study we show that chromosomal in situ suppression hybridization with a regional 1p36 DNA bank generated by microdissection and microcloning can be employed to detect translocations involving 1p36.
Evidence for a Common Molecular Pathogenesis in Colorectal, Gastric, and Pancreatic Cancer
Authors: Neuman Wilma L. , Wasylyshyn Marina L. , Jacoby Russell , Erroi Francesca , Angriman Imerio , Montag Anthony , Brasitus Thomas , Michelassi Fabrizio , Westbrook Carol A. 
Published: February 2007

AbstractWe examined tissue extracted from 19 gastric, 7 pancreatic, and 23 colorectal carcinoma specimens to determine the comparative incidence of allele loss on chromosomes 5, 17, and 18 and that of KRAS2 point mutations. Chromosome 5 allele loss occurred at the same frequency in all three gastrointestinal tumors (approximately 30%), whereas chromosome 17 and 18 allele losses were seen at a significantly lower frequency in gastric (20%) and pancreatic (0%) malignancies than in colorectal cancer (57%). Point mutations in KRAS2 were seen in 83% of pancreatic and 52% of colon cancers, but not in gastric cancer specimens. In pancreatic tumors, these mutations were always found in the second nucleotide of codon 12. In colorectal cancer, the distribution was more variable, involving the second nucleotide of codon 13 and both the first and second nucleotides of codon 12. These results suggest that inactivation of the adenomatous polyposis coli gene on chromosome 5 may be an initiating step for carcinomas of the stomach and pancreas as well as of the colon, but that the genes involved in tumor progression events may be tissue‐ or tumor‐specific.
Trisomy 7 and Sex Chromosome Loss Need Not Be Representative of Tumor Parenchyma Cells in Malignant Glioma
Authors: Lindström Elisabeth , Salford Leif G. , Heim Sverre , Mandahl Nils , Strömblad Susanne , Brun Arne , Mitelman Felix 
Published: February 2007

AbstractWe describe the cytogenetic findings in short‐term cultures from 40 malignant gliomas, all of which had at least one clone with a simple numerical chromosome aberration. More than one aberrant clone was found in 17 tumors. The most frequent changes were loss of a gonosome (sole aberration in 38 clones), trisomy 7 (sole aberration in four clones), and combinations thereof (the aberrations + 7 and — X or — Y were found together as the only changes in four clones). Clones with solitary trisomies for other autosomes—3, 5, 6, and 18—were seen in five tumors. Clones with structural rearrangements were found in nine tumors. The bands most commonly involved were I p36, 7p22, 9p22, 17p 13, and 19q 13. An extra copy of chromosome 7 was seen as part of a structurally abnormal clone in five tumors. In one case, trisomy 7 and even tetrasomy 7 were found in clones with simple numerical changes, but not in the clone with structural rearrangements. Likewise, the clonal loss of a gonosome was in six tumors, with structural abnormalities not present in the structurally aberrant clones; on the other hand, in two clones with structural aberrations a sex chromosome had been lost. The combined findings indicate that loss of a sex chromosome and trisomy 7 should not be seen as tumor‐specific aberrations in gliomas. Instead, both glioma parenchyma cells and nonneoplastic cells in brain tumors may have a propensity to acquire extra copies of chromosome 7 and to lose gonosomes.
Karyotype instability and altered differentiation of rat sarcoma cells after retroviral infection
Authors: Steffen Martin , Scherdin Ulrich , Hölzel Fritz , Vértes Isabella , Boecker Werner , Dietel Manfred 
Published: February 2007

AbstractThe karyotypic and phenotypic stability of cultured rat fibrosarcoma cells was challenged by infection with Moloney murine sarcoma virus (MoMuSV). After transformation, the spindle‐like morphology of the parental HH‐16 cl.2/1 cells had altered to a rounded phenotype, which was maintained in tumors produced by inoculating transformed cells into congenic animals. In contrast to the parental cells, transformed cells lacked cables of cytokeratins 14–16 and 19 and showed reduction of the mesenchymal marker protein vimentin. Additionally, the morphologically altered cell clones tf‐1 to tf‐3 had lost growth arrest in the presence of dexamethasone. The DNA of the transformed cells contained between four and six randomly integrated proviral copies. Karyotypic alterations were manifested by reduction of morphologically intact chromosomes in the MoMuSV‐transformed cells together with increase of structural aberrations. Three additional markers were identified in the virus‐transformed cell clones. Karyotypic instability induced by MoMuSV infection appeared closely related to reduction of the cellular differentiation status, although only cells of clone tf‐1 had increased metastatic potential.
Specific metaphase and interphase detection of the breakpoint region in 8q24 of burkitt lymphoma cells by triple‐color fluorescence in situ hybridization
Authors: Ried Thomas , Lengauer Christoph , Cremer Thomas , Wiegant Joop , Raap Anton K. , Ploeg Mels Van Der , Groitl Peter , Lipp Martin 
Published: February 2007

AbstractTriple fluorescence in situ hybridization with a plasmid DNA library from sorted human chromosomes 8 in combination with bacteriophage clones flanking the breakpoint in 8q24 of the Burkitt lymphoma cell line Jl was used for the specific delineation of this breakpoint in individual tumor cells. With this approach, tumor‐specific breakpoints in translocation chromosomes can be detected at all stages of the cell cycle with high specificity.