bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clonal aberrations of chromosomes x, y, 7 and 10 in normal kidney tissue of patients with renal cell tumors
Authors: Emanuel Angela , Szucs Sandor , Weier Heinz‐Ulrich G. , Kovacs Gyula 
Published: February 2007

AbstractBy means of G‐banding techniques, chromosome aberrations were studied in short‐term cultures of normal renal parenchymal cells from 45 patients with renal cell carcinoma. Clonal chromosomal aberrations were detected in 29 patients; loss of the Y chromosome as well as trisomy X, 5, 7, 9, 10, 12, and 18 was found. Chromosomes 7 and 10 were involved preferentially. Results of fluorescence in situ hybridization with chromosome 7‐ and 10‐specific DNA probes on non‐cultured normal kidney cells suggested that the aberrations developed in vivo.
Trisomy 2 as the sole chromosomal abnormality in a hepatoblastoma
Authors: Bardi Georgia , Johansson Bertil , Pandis Nikos , Heim Sverre , Mandahl Nils , Mitelman Felix , Békássy Albert , Hägerstrand Inga 
Published: February 2007

AbstractShort‐term cultures of a fine‐needle aspirate from a hepatoblastoma were analyzed cytogenetically. Trisomy 2 was found as the sole abnormality, yielding the karyotype 47,XY, + 2/46,XY. Because trisomy for all or part of chromosome 2 has been described, although together with other aberrations, in seven of the 11 hepatoblastomas hitherto reported, the finding of +2 as the only anomaly in the present case strongly indicates that additional chromosome 2 material is of pathogenetic significance in this tumor type.
Interstitial loss of the same region of 5q in multiple adenomas and a carcinoma derived from an adenomatous polyposis coli (apc) patient
Authors: Miki Yoshio , Nishisho Isamu , Nakamura Yusuke , Miyoshi Yasuo , Utsunomiya Joji 
Published: February 2007

AbstractAccumulation of genetic alterations in oncogenes and tumor suppressor genes causes the transformation of a normal cell into a malignant cell. Recently, Fearon and Vogelstein (Cell 61:759‐767, 1990) reported on a model for the genetic pathway in development of colorectal neoplasia. To investigate genetic alterations in colorectal carcinomas, we examined allelic losses on some chromosomes in adenomas and carcinomas derived from patients with adenomatous polyposis coli (APC). We found evidence for an interstitial deletion of 5q. Loss of heterozygosity (LOH) of 5q around the APC locus was observed in both adenoma and carcinoma in one case. The fact that the same region of chromosome 5 was lost in five adenomas and one carcinoma derived from the same patient suggests that a somatic interstitial deletion may be caused not by random mechanisms but by a specific mechanism.
The nm23 gene maps to human chromosome band 17q22 and shows a restriction fragment length polymorphism with bg/II
Authors: Varesco Lillana , Caligo Maria A. , Nardini Vincenzo , Bevilacqua Generoso , Casarino Lucia , Ferrar Giovanbattista , Simi Paolo , Rocchi Mariano , Black Donald M. , Solomon Ellen 
Published: February 2007

AbstractThe NM23‐HI gene is a putative tumor suppressor gene that may be important in the metastastic process. Recent genetic and immunological data indicate that the NM23‐HI gene encodes a protein with nucleoside diphosphate (NDP) kinase activity. The mapping of NM23‐HI by panels of rodent‐human somatic cell hybrids and in situ hybridization showed that the gene is located in human chromosome band 17q22. A two‐allele polymorphism with Bg/ll was demonstrated.
Cytogenetic abnormalities in an ossifying fibroma from a patient with bilateral retinoblastoma
Authors: Gollin Susanne M. , Storto Patrick D. , Malone Patrick S. , Washington Janice A. , Chidambaram Abirami , Barnes Leon , Janecka Ivo P. 
Published: February 2007

AbstractCytogenetic analysis of a cemento‐ossifying fibroma from a patient with nonfamilial bilateral multicentric retinoblastoma revealed three reciprocal translocations with the karyotype 46,XY,t(1;18)(q21;q21.3),t(3;10)(p13;q22),t(6;11)(p22;p15). Routine and high‐resolution cytogenetic analysis of peripheral blood leukocytes showed an apparently normal, 46,XY chromosome pattern with no deletion of chromosome 13. Molecular analysis demonstrated no gross differences in the retinoblastoma gene or the TP53 gene between constitutional and tumor DNA. This is the first cytogenetic analysis of a cemento‐ossifying fibroma and the first report of this tumor in a retinoblastoma patient. The data may be added to the small, but growing literature on cytogenetic aberrations in benign tumors and may lend insight into genes involved in cell proliferation and neoplastic transformation.
Linkage map of a region of human chromosome band 11q13 amplified in breast and squamous cell tumors
Authors: Brookes Sharon , Alistair Lammie G. , Dickson Clive , Peters Gordon , Schuuring Ed 
Published: February 2007

AbstractDNA amplification involving markers on human chromosome band 11q13 is a consistent feature of several major cancers, notably adenocarcinoma of the breast and squamous cell carcinoma of the head, neck, lung, and esophagus. Since the presence of the amplification may be clinically significant, by defining a subset of patients at increased risk, it is important to establish which of the several genes on the amplified DNA provides the selective force. Here we describe a physical map of the centromeric end of the amplified DNA as it exists in a particular squamous carcinoma cell line (UMSCC2) and establish an unambiguous order for several known markers in the region, including pMSS1/D11S97, pHB159/D11S146, BCL1, PRAD1/D11S287, HSTFI/FGF4 and INT2/FGF3. Significantly, PRAD1 is within 120–150 kb of the BCL1 translocation breakpoint and the data identify a new CpG island (D11S814) between PRAD1 and HSTFI. The ordering of the HSTFI and INT2 genes and the clustering of CpG islands in the region have important implications in assessing whether the frequently observed amplifications at 11q13 are centered on one or more genes.
Malignant fibrous histiocytoma of the brain in a six‐year‐old girl
Authors: Biegel Jaclyn A. , Perilongo Giorgio , Rorke Lucy B. , Parmiter Annette H. , Emanuel Beverly S. 
Published: February 2007

AbstractWe have prepared karyotypes from a malignant fibrous histiocytoma (MFH) of the brain of a 6‐year‐old girl. Sporadic cases of MFH in the central nervous system have been reported. However, to our knowledge, this is the first central nervous system tumor to be subjected to cytogenetic analysis. The tumor demonstrated a complex karyotype, with a variety of numerical and structural abnormalities. Although no specific cytogenetic abnormality was observed, the karyotype of this case was similar to those reported for adult MFH of soft tissues.
Chromosome studies in plasma cell leukemia and multiple myeloma in transformation
Authors: Jonveaux Philippe , Berger Roland 
Published: February 2007

AbstractFour patients with plasma cell leukemia (PCL) and two with multiple myeloma (MM) in transformation had complex numerical and structural chromosome abnormalities. From data published in the literature, the cytogenetic patterns of 46 cases of PCL or MM in the leukemic phase are compared with chromosomal abnormalities found in MM. Although the spectrum of chromosomal abnormalities is comparable in both diseases, the incidence of chromosome abnormalities is higher in PCL than in MM. Hypodiploidy with monosomies for chromosomes 13, 16, 17, and 18 is also more frequent in PCL than in MM. A mutation within the TP53 gene was detected in one of the three patients studied molecularly.
Expression of the ETS2 and transferrin receptor genes in Philadelphia‐positive chronic myeloid leukemia patients with a reciprocal t(3;21)
Authors: Lafage‐Pochitaloff Marina , Courcoul Marianne , Simonetti Jacqueline , Sainty Danielle , Dastugue Nicole , Tabilio Antonio , Hagemeijer Anne , Birg Françoise 
Published: February 2007

AbstractThe translocation t(3;21)(q26;q22) is a rare recurring clonal abnormality, either preceding or associated with blast crisis in Philadelphia chromosome‐positive chronic myeloid leukemia (CML) patients. We previously localized the chromosomal breakpoints at 3q26.2 and 21q22.2, using high resolution chromosomal analysis. Two genes of interest are localized near the breakpoints, the transferrin receptor gene and the ETS2 proto‐oncogene. Their chromosomal localizations, determined by in situ hybridization on normal metaphase cells, were 3q29 and 21q22.3, respectively. They underwent a reciprocal translocation in patients with t(3;21). Their structures were not altered by the translocation, and both were expressed to varying levels in t(3;21) patients. Southern blotting investigations showed that the structure of other single‐copy genes, including FIM3, localized near the breakpoints, were not affected by the translocation. An analysis of ETS2 expression performed on CML patients without t(3;21) showed the presence of the transcript in 100% of the blast crises, but only in 20% of the chronic‐phase patients. Thus ETS2 expression may either be linked to or play a role in CML progression.
Unicolor and bicolor in situ hybridization in the diagnosis of peripheral neuroepithelioma and related tumors
Authors: Desmaze C. , Zucman J. , Delattre O. , Thomas G. , Aurias A. 
Published: February 2007

AbstractThe chromosome 22 breakpoint of the t(11;22) translocation of peripheral neuroepithelioma has been located, by fluorescence in situ hybridization, in the proximity of the interface between 22q12.1 and 22q12.2. Use of single cosmids or pools of cosmids of the flanking regions enables the monitoring of the translocation in interphase and in metaphase chromosomes. This method can now be routinely applied for the diagnosis of this translocation in mixed round cell tumors.
Fusion and amplification of two originally non‐syntenic chromosomal regions in a mammary carcinoma cell line
Authors: Lafage Marina , Pedeutour Florence , Marchetto Sylvie , Simonetti Jacqueline , Prosperi Marie‐Thérèse , Gaudray Patrick , Birnbaum Daniel 
Published: February 2007

AbstractThe FLG/FGFRI gene, encoding a receptor for members of the FGF family, is located at 8p 11.2‐p12. It is amplified, overexpressed, and not grossly rearranged in the MDA‐MB‐134 breast carcinoma cell line, whereas other genes from the pericentromeric 8p region are not amplified. The FGF4/HSTFI gene, located at 11q13, is also amplified with a substantial portion of the 11q13 region, but is not overexpressed in MDA‐MB‐134 cells. In this cell line, amplified sequences constitute a large homogeneously staining region (HSR) which is part of a marker chromosome containing chromosome 8 and chromosome 11 sequences. Using probes for the FGF4/HSTFI and the FLG/FGFRI genes in fluorescence chromosomal in situ hybridization, we show that the HSR contains de novo fused and amplified 11q13 and 8p11‐p12 sequences associated in a complex structure containing approximately the same number of FGF4 and FGFRI genes. The significance of this genetic abnormality for MDA‐MB‐134 cells, and for breast carcinogenesis in general, is unknown, but may underlie a particular type of oncogene activation.
Loss of heterozygosity for 10q loci in human gliomas
Authors: Rasheed B. K. Ahmed , Fuller Gregory N. , Friedman Allan H. , Bigner Darell D. , Bigner Sandra H. 
Published: February 2007

AbstractCytogenetic and RFLP studies have shown that chromosome 10 is frequently lost in tumor cells from glioblastomas, suggesting that a suppressor gene important in tumorigenesis is present on this chromosome. Forty‐one tumors were examined for loss of heterozygosity at 23 loci on chromosome 10 to determine the smallest common deletion interval on this chromosome. Seven tumors did not lose heterozygosity for any of the markers. Twenty‐three tumors lost an allele for all the informative loci. In 11 tumors heterozygosity was maintained at some loci and lost at other loci, indicating partial deletion of chromosome 10. The common region of deletion in these 11 tumors was located in 10q24‐q26 between the markers pHUK‐8 and pMCT122.2.
Deletions in the short arm of chromosome 8 are present in up to 90% of human colorectal cancer cell lines
Authors: Van Der Bosch Kai , Becker Ilona , Savelyeva Larisa , Brüderlein Silke , Schlag Peter , Schwab Manfred 
Published: February 2007

AbstractCytogenetic analyses of human colon cancer cells have revealed non‐random deletions in chromosome arm 8p, among other chromosomal changes. By using 8p‐specific DNA probes we could identify allelic loss in 87% of colon cancer cell lines. Corresponding analyses in direct preparations of colon tumor tissues revealed a minimal value of 40% of allelic loss but were obstructed in many instances by contaminating normal tissue. These findings add to the number of non‐random genetic alterations occurring during colon carcinogenesis.
Wilms' tumor‐specific methylation pattern in 11p13 detected by PFGE
Authors: Royer‐Pokora Brigitte , Schneider Susanne 
Published: February 2007

AbstractThe analysis of 2,550 kb from 11 p 13 in Wilms' tumor (WT) material revealed two regions that differed significantly in their methylation between tumor and normal tissue. In WT a hypomethylated area defined by an Nrul and Mlul recognition site 100–150 kb centromeric of the WT gene WTI (site A) and hypermethylation defined by an Nrul and Sacll site 100 kb telomeric of the WTI gene were found (site B). The degree of methylation in region B varied between 20 and 100% in the different samples; the highest level was observed in tumors without preoperative chemotherapy. The CpG island 5′ of the WTI gene was partially methylated in 2/29 tumors analyzed. The methylation state of regions A and B could reflect the normal pattern present in a subset of embryonal kidney cells, from which WT develops.
Cytogenetic and molecular genetic characterization of papillary thyroid carcinomas
Authors: Sozzi Gabrielia , Bongarzone Italia , Miozzo Monica , Cariani Claudia T. , Mondellini Piera , Calderone Carla , Pilotti Silvana , Pierotti Marco A. , Porta Giuseppe Della 
Published: February 2007

AbstractA combined cytogeneticand molecular analysis was performed on 11 cases of papillary thyroid carcinoma. A simple karyotypic abnormality was detected in five tumors, whereas six had no apparent chromosome change. In four of five rearranged cases the presence of a specific chromosomal abnormality involving chromosome 10 (cases 1 and 2) and chromosome I (cases 3 and 4) was associated with the rearrangement of two protooncogenes: RET and NTRKI(formerly trk), respectively, with different donor genes. Moreover, the chromosomal localization of the involved genes and the type of chromosomal change observed suggested that RET and NTRKI activation occurred by intrachromosomal rearrangements. The six cases with normal karyotype did not show RET or NTRKI activation. These findings suggest that a combined cytogenetic and molecular approach would be useful in understanding the pathogenesis of thyroid neoplasia.
Cloning and characterization of the Ewing's sarcoma and peripheral neuroepithelioma t(11;22) translocation breakpoints
Authors: Zucman Jessica , Delattre Olivier , Desmaze Chantal , Plougastel Béatrice , Joubert Isabelle , Melot Thomas , Peter Martine , De Jong Pieter , Rouleau Guy , Aurias Alain , Thomas Gilles 
Published: February 2007

AbstractEwing's sarcoma (ES) and peripheral neuroepithelioma (PN) are related tumors, possibly of neural crest origin, which are cytogenetically characterized by the specific translocation t(11;22)(q24;q 12). The cos5 locus, previously identified in the vicinity of the chromosome 22 breakpoint of this translocation, was shown by in situ hybridization on interphase nuclei to lie between VIIIF2 and LIF, two loci located on either side of the breakpoint and at a distance of less than 2,000 kb. The progressive expansion of this locus by chromosome walking led to the construction of a 300 kb contig, which finally crossed the breakpoint. The subsequent cloning of the two translocation junction fragments of a PN, followed by the molecular characterization of the translocation breakpoints of 20 ES and PN, showed that most chromosome 22 breakpoints are clustered within a small, 2 kb region. In contrast, the chromosome 11 breakpoints are scattered over a region of at least 40 kb. The translocation leads to the synthesis of a chimeric transcript that links sequences from chromosomes 22 and 11. Finally, no evidence was found of any specific difference in the position of ES and PN translocation breakpoints.
Chromosome I alterations in breast cancer: Allelic loss on Ip and Iq Is related to lymphogenic metastases and poor prognosis
Authors: Borg Åke , Zhang Qiu‐Xia , Olsson Håkan , Wenngren Eva 
Published: February 2007

AbstractThe development of human breast cancer is characterized by a variety of genetic alterations, and cytogenetic analyses have documented the consistent involvement of both arms of chromosome I. In the present study, molecular markers detecting restriction fragment length polymorphisms were used in pairwise screening of normal and tumor DNA to determine the frequency of allelic imbalance in breast tumors. Loss of heterozygosity (LOH) in the polymorphic epithelial mucin (PEM or MUCI) gene at 1q21 was found in 16% of 89 informative (constitutionally heterozygous) cases, whereas gain in intensity of one allelic band was more frequent (37%), a total of 47% of cases manifesting either allelic loss or gain. Three additional tumors manifested a structural alteration. Allelic loss or gain in the PEM gene was not associated with other prognostic factors, e.g., tumor size, lymph node status, steroid receptors, DNA ploidy, S phase fraction, protooncogene amplification, histological type, or patient age. However, LOH in the PEM gene was significantly correlated with early disease recurrence (P = 0.006). LOH on 1p was found in 27% of 117 informative cases, using probes for either DIS57 or DIZ2 located at 1p33‐p35 and 1p36, respectively. Somatic allelic imbalance on 1p and 1q seemed to be independent events and not the effect of loss of a whole chromosome 1. LOH on 1 p was significantly correlated to the presence of lymph node metastasis, to larger tumor size, and to DNA nondiploidy, but no correlation was found to disease outcome at this limited duration of follow‐up (median 29 months). ©1992 Wiley‐Liss, Inc.
Loss of heterozygosity mapping in Wilms tumor indicates the involvement of three distinct regions and a limited role for nondisjunction or mitotic recombination
Authors: Coppes Max J. , Bonetta Laura , Huang Annie , Hoban Paul , Chilton‐MacNeill Susan , Campbell Chris E. , Weksberg Rosanna , Yeger Herman , Reeve Antony E. , Williams Bryan R. G. 
Published: February 2007

AbstractLoss of heterozygosity (LOH) for polymorphic markers is a frequently occurring event in some tumors, reflecting the role of allele loss in the development of these tumors. We have determined LOH in 38 cases of Wilms tumor for the 2 known loci on chromosome arm 11p and for a newly detected locus on chromosome arm 16q. Only 7 of the 38 tumors studied showed reduction to homozygosity of 11p13 markers. In 4 of these tumors, reduced expression of WTI and WITI, genes located at 11p13 and implicated in Wilms tumorigenesis, was noted. However, this was also found in 2 of 7 tumors showing LOH exclusively of 11p15 markers and in 15 of the remaining 24 tumors in which there was no LOH for 11p markers. This suggests that events not involving mitotic recombination or chromosome nondisjunction are the most common mechanisms for mutations at the 11p Wilms tumor locus. We also noted that mitotic recombination involving 11p15 loci occurred in addition to reduced expression of the 11p 13 locus genes in 2 tumors, suggesting a possible interaction between these 2 loci. In addition, LOH for 16q markers was observed in 6 tumors. In one case this was coincident with reduction of WTI and WITI gene expression, and in 3 other cases it occurred in addition to 11p LOH. This indicates that an additional locus on 16q is likely to be involved in Wilms tumorigenesis. © 1992 Wiley‐Liss, Inc.
Subiocalization of the chromosome 5 breakpoint of the 3;5 translocation in myelodysplastic syndromes and acute myeloid leukemia
Authors: Morris Stephan W. , Foust John T. , Valentine Marcus B. , Roberts W. Mark , Shapiro David N. , Look A. Thomas 
Published: February 2007

AbstractA t(3;5)(q25.1;q34) reciprocal translocation identifies a subset of cases of myelodysplastic syndrome or acute myeloid leukemia (AML) that are characterized by increased numbers of megakaryocytes and severe trilineage dysplasia. As a first step in characterizing the t(3;5) breakpoints, we asked whether the translocation involves the CSFIR/PDGFRR locus at 5q33‐q35. Pulsed‐field gel electrophoretic analysis of a region extending 580 kb 5′ to the PDGFRB gene and 120 kb 3′ to the CSFIR gene did not reveal aberrant restriction fragments in leukemic cell DNA, confirming that the breakpoint does not occur in the vicinity of these genes. To sublocalize the breakpoint, we performed Southern blot hybridizations using DNA from human × hamster somatic cell hybrids containing the normal 3, the normal 5, the derivative 3, or the derivative 5 human chromosome. Using a series of polymorphic DNA probes from the long arm of chromosome 5, which have been linked by genetic recombination, we bracketed the breakpoint to within a region that spans ∼ 13 centimorgans (sex average) and is flanked by the q34‐qter markers cKK5.19 and L1200 (D5S62). This analysis places the chromosome 5 breakpoint of the t(3;5) considerably telomeric to the CSFIR/PDGFRB locus, confirming our studies with pulsed‐field electrophoresis. Future efforts to identify the genes affected by the t(3;5) should focus on the 5q segment described in this study. © Wiley‐Liss, Inc.
Human RAG2, like RAGI, is on chromosome II band p13 and therefore not linked to ataxia telangiectasia complementation groups
Authors: Sherrington P. D. , Forster A. , Seawright A. , Van Heyningen V. , Rabbitts T. H. 
Published: February 2007

AbstractAtaxia telangiectasia (A‐T) is an inherited, recessive, cancer‐prone disease with associated immunodeficiency and chromosome abnormalities involving TCR loci. The latter phenomena implicate errors of the enzyme(s) responsible for assembly of antigen receptor genes (recombinase) in disease pathogenesis. Here we report the location of a human recombination activating gene (RAG2), in addition to RAGI, on chromosome 11, band p13, thereby formally demonstrating linkage of these genes in humans and showing that they are not linked to the known locus responsible for the A‐T syndrome. © 1992 Wiley‐Liss, Inc.