bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cytogenetic abnormalities in non‐small cell lung carcinoma: Similarity of findings in conventional and feeder cell layer cultures
Authors: Siegfried Jill M. , Hunt Jay D. , Zhou Jian‐Yuan , Keller Steven M. , Testa Joseph R. 
Published: February 2007

AbstractPrimary tumors from 39 patients with non‐small cell lung carcinoma (NSCLC) were examined for cytogenetic abnormalities by conventional short‐term harvest (1–39 days) of primary cultures of minced solid‐tumor tissues and by harvest of monolayer cultures of tumor tissue (6 days to 5 months) on murine fibroblast feeder layers. A successful karyotype was obtained with both methods in nine of 39 cases. Among the remaining 30 cases, a successful karyotype was obtained in eight cases by the conventional method only and in three cases by the feeder cell method only. The success rates were 44% for the conventional method, and 31% for the feeder cell method, and the combined success rate was 51% for one or the other method. The feeder culture method, in which harvests were usually performed at later times than with the conventional method, generally produced metaphases with superior banding, which allowed clearer definition of cytogenetic abnormalities. In addition, cell lines were established in eight of these cases by the feeder cell method. Karyotypes from the longer‐term harvests typically were very similar to those from short‐term conventional cultures. Minor numerical differences and/or a few additional structural abnormalities were noted in seven of the nine cases analyzed by both methods. Overall, however, even in karyotypes from 5‐month cultures, the prominent recurrent changes and modal chromosome numbers observed in short‐term cultures were still present. The results indicate that long‐term culture with fibroblast feeder cells is a valid means of obtaining cells from solid lung tumors for cytogenetic and molecular analysis. Cell lines established by this method will be useful in future molecular studies, for example, for mapping of chromosome breakpoints and sites of chromosome loss, for in situ hybridization, and for studies of the expression of critical candidate genes implicated by cytogenetic findings. In addition, by combination of conventional and feeder cell harvests, both the number of primary tumors successfully examined karyotypically and the quality of the analyses are improved.© 1993 Wiley‐Liss, Inc.
ZFY gene expression and retention in human prostate adenocarcinoma
Authors: Tricoli James V. , Bracken R. Bruce 
Published: February 2007

AbstractThe terminal portion of the short arm of the human Y (Yp) chromosome encodes a zinc‐finger DNA binding protein (ZFY). A highly homologous gene, ZFX, is encoded on Xp. The potential of the zinc finger motif for regulating the expression of other genes suggests a role for this protein in the development of malignancy. Prostate adenocarcinoma is a malignancy of malespecific tissue, the incidence of which increases beyond the fifth decade of life. We have analyzed samples of human prostate adenocarcinoma for the expression of ZFY and ZFX transcripts. We found expression of ZFY transcripts in 3 of 31 prostate adenocarcinomas by using Northern analysis. No ZFY or ZFX transcripts were detected in normal hypertrophic prostate tissue on Northern analysis. In one prostate adenocarcinoma, high levels of the 5.1 kb ZFY and the 8.0 and 6.3 kb ZFX transcripts were present. In addition, this high‐grade tumor contained a novel 4.3 kb transcript. When we used reverse transcriptase PCR (RT‐PCR) to analyze these same samples, the number of tumors expressing ZFY and/or ZFX transcripts increased to 20 of 31. Transcripts for these genes were also present in the DU‐145 and LNCaP human prostate adenocarcinoma cell lines. In 2 of the 6 benine prostatic hypertrophy (BPH) tissues analyzed by RT‐PCR, barely detectable products of ZFY were observed, and none contained ZFX products. Southern analysis revealed that the portion of the Y chromosome which contains the ZFY gene was not lost from the majority of the tumor cells in any of the prostate malignancies examined. Our results demonstrate that ZFY and ZFX genes can become transcriptionally active in human tumors. We suggest that one possible outcome of this expression is the potential deregulation of other important growth control genes which could contribute to prostate malignancy. © 1993 Wiley‐Liss, Inc.
Detection of somatic changes in human renal cell carcinomas with oligonucleotide probes specific for simple repeat motifs
Authors: Bock Susanne , Epplen Jörg T. , Noll‐Puchta Heidi , Rotter Michael , Höfler Heinz , Block Thomas , Hartung Rudolph , Jakse Gerhard , Wilmanns Wolfgang , Petrides Petro E. 
Published: February 2007

AbstractThe purpose of our study was to detect somatic changes in renal cell carcinoma by multilocus fingerprinting. DNA fingerprints were generated from the DNA of normal and malignant renal tissue samples of 29 patients with nonhereditary kidney carcinoma by using oligonucleotide probes specific for simple repeat motifs such as (GTG)5, (CA)8, (GACA)4, or (TTAGGG)3. Each probe resdered a typical fingerprint pattern, because it is specific with respect to the target regions recognized in the genome. The restriction enzymes used were Hinfl and HaeIII. Changed banding patterns were detected by using (GTG)5 in 20% of the tumors, in 20% for (CA)8 after Hinfl digestion, and in 10% after HaeIII digestion. Even more informative probes were (GACA)4, showing 70% changes after HaeIII digestion, and (TTAGGG)3, with 80% changes after digestion with either enzyme. Since the simple repeat motifs recognized by (GACA)4 are localized on the short arms of the acrocentric chromosomes (13, 14, 15, 21, and 22), it is possible that sequences important for renal carcinogenesis are present in these regions. The observation of changes in regions to which (TTAGGG)3 hybridizes points to an involvement of DNA elements in telomeric sequence related regions in human kidney tumor formation. © 1993 Wiley‐Liss, Inc.
A submicroscopic interstitial deletion of chromosome 14 frequently occurs adjacent to the t(14;18) translocation breakpoint in human follicular lymphoma
Authors: Zelenetz Andrew D. , Cleary Michael L. , Levy Ronald 
Published: February 2007

AbstractThe t(14;18) chromosomal translocation characteristic of follicular lymphoma (FL) juxtaposes the immunoglobulin heavy chain locus (IGH) and the BCL2 proto‐oncogene. The translocation can be readily detected as a non‐germline Notl fragment resolved by pulsed‐field gel electrophoresis. A benefit of this approach is that it enables examination of the structure of a large region (±300 kb) surrounding the chromosomal breakpoint. In 40/46 cases the observed translocated Notl fragment was smaller than the 680–690 kb expected from published restriction maps of the involved loci suggesting a deletion in the region of the breakpoint. Analysis of the der(14) allele by molecular hybridization demonstrated that in 35/46 cases the μ. constant region (Cμ) was deleted. Further molecular dissection of the IGH locus demonstrated that this resulted from an interstitial deletion of the der(14) chromosome within the region defined by the μ switch region (Sμ) on the 5′ side and the ϵ constant region (Cϵ) on the 3′ end. Thus, the deletion resembled a class switch (CS) recombination event. Surprisingly, the CS deletion was as common in FL which was sIGM positive (24/33, 72.7%) as in cases where the productive allele had already undergone CS deletion (11/13, 84.6%) suggesting that the observed non‐physiologic CS deletion resulted from a cis effect of the chromosomal translocation. Similar interstitial deletions of the non‐productive IGH allele were not seen in B cell lymphocytic lymphomas which do not have the t(14;18) translocation. Mapping of the 3′ extent of the deletion by an isotype PCR assay demonstrated frequent involvement (11/12 cases) of the γ1 constant region (Cγ1). Analysis of cases in which the deletion was not evident by Southern blotting but detectable by PCR suggested that the CS deletion had occurred in a small subpopulation of FL cells subsequent to the t(14;18) translocation. The biological role of frequent interstitial deletions of the der (14) chromosome in t(14;18)‐carrying lymphomas remains to be elucidated. © 1993 Wiley‐Liss, Inc.
Interstitial deletion of the short arm of chromosome 3 as a primary chromosome abnormality in carcinomas of the breast
Authors: Pandis Nikos , Jin Yuesheng , Limon Janusz , Bardi Georgia , Idvall Ingrid , Mandahl Nils , Mitelman Felix , Heim Sverre 
Published: February 2007

AbstractInterstitial deletions of the short arm of chromosome 3 were found in short‐term cultures of five breast carcinomas (of 41 breast cancers with clonal aberrations analyzed by us during the same period). They were the only clonal structural change in three tumors; in the remaining two, the clone with 3p– coexisted with seemingly unrelated clones that had other structural and numerical aberrations. The deletions were identical, del(3)(p12p14), in four cases. The fifth tumor seemed to have a smaller deletion, interpreted as del(3)(p13p14). Our findings constitute karyotypic evidence that 3p deletions are relatively common in breast carcinomas and concur with the molecular genetic detection of loss of heterozygosity in this chromosome arm. The fact that the deletions were found as solitary changes indicates that loss of genetic information from 3p loci is an early, possibly primary, event in tumorigenesis. © 1993 Wiley‐Liss, Inc.
Chromosome anomalies in mammary carcinoma from transgenic WAPRAS mice: Comparison with human data
Authors: Roy Henri Le , Ricoul Michelle , Ogata Hiromitsu , Apiou Françoise , Dutrillaux Bernard 
Published: February 2007

AbstractTransgenic WAPRAS mice, obtained by infection of the construct WAP promoter murine gene and the HRAS human protooncogene, develop mammary adenocarcinoma within 1–3 months after pregnancy. A cytogenetic analysis was performed on 17 tumors from 10 mice. Almost all detected anomalies were chromosome gains. The resulting trisomies affected recurrently chromosomes 1, 15, 19, 17, 7, and 12, in decreasing order of involvement. Although in situ hybridization showed that the transgene was integrated in chromosome 1, the duplication of this chromosome did not depend on the presence or absence of the transgene. Comparison with human data indicates that the 3 most frequently duplicated chromosomes in WAPRAS mice correspond to the human chromosome segments most frequently duplicated or amplified in breast cancer, i.e., 1q, 8q, and 11q13. None of the chromosome segments often deleted in human tumors were found to be duplicated in the mouse tumors. © 1993 Wiley‐Liss, Inc.
Uniparental origin of i(12p) in human germ cell tumors
Authors: Sinke Richard J. , Suijkerbuijk Ron F. , Jong Bauke De , Oosterhuis J. Wolter , Van Kessel Ad Geurts 
Published: February 2007

AbstractWe present molecular data to demonstrate that the isochromosome 12p, specific for human germ cell tumors (GCTs), is of uniparental origin. Eight GCT‐derived cell lines, containing one or more copies of i(12p) and/or other 12p anomalies, were analyzed with different 12p‐derived polymorphic markers. The results from Ma‐90, a near‐diploid cell line with only one i(12p) in addition to two copies of a normal chromosome 12, clearly show an allelic 12p ratio of approximately 3:1, indicating that both 12p arms are of identical parental origin. These results were further substantiated by data obtained from the other i(12p)‐positive GCT‐derived cell lines. Therefore, we conclude that the i(12p) in GCTs constitutes a genuine isochromosome with genetically identical arms. The isochromosome most likely originates from a misdivision of the centromere rather than from a translocation or a non‐sister chromatid exchange as proposed by others. We also found that supernumerary 12p copies, as observed in i(12p)‐negative GCTs, are of uniparental origin. These observations seem to point to an important role for certain 12p‐derived sequences in the development of human GCTs. © 1993 Wiley‐Liss, Inc.
Clonal chromosome aberrations in cell cultures of synovial tissue from patients with rheumatoid arthritis
Authors: Ermis Ayhan , Hopf Thomas , Hanselmann Rainer , Remberger Klaus , Welter Cornelius , Dooley Steven , Zang Klaus D. , Henn Wolfram 
Published: February 2007

AbstractCytogenetic analysis of primary cell cultures and/or passages 1–3 of synovial tissue from seven patients with rheumatoid arthritis was performed. As the only recurrent chromosome aberration, trisomy 7 was found in six of seven cultures. In four cultures, trisomy 7 occurred as a clonal change in up to 20% of the analyzed cells, with an increase of the proportion of cells with +7 with the duration of the in vitro culture. Apart from this recurrent change, a variety of partly clonal, partly nonclonal numerical and structural chromosome aberrations were observed in all cases. These findings support the view that clonal chromosome aberrations may play a role in the pathogenesis of invasive growth of the synovial tissue in rheumatoid arthritis although the localized synovial hyperproliferation is not a true neoplastic process. © 1993 Wiley‐Liss, Inc.
Ring chromosome 6 as the only change in a thymoma
Authors: Cin Paola Dal , De Wolf‐Peeters Chris , Aly Magdy S. , Deneffe Georges , Van Mieghem Walter , Van Den Berghe Herman 
Published: February 2007

AbstractCytogenetic analysis of a thymoma showed the presence of a ring chromosome 6 as the sole chromosome abnormality. © 1993 Wiley‐Liss, Inc.
A second case of trisomy 8 in philadelphia chromosome (Ph)‐negative cells during the course of Ph‐positive chronic myelocytic leukemia
Authors: Bilhou‐Nabera C. , Marit G. , Devianne I. , Viard F. , Salzes S. , Montastruc M. , Renoux M. , Broustet A. , Reiffers J. , Bernard Ph. 
Published: February 2007

AbstractA Ph‐positive CML patient who had received a peripheral blood stem cell autograft in chronic phase demonstrated a transient regression of the Ph‐positive clone with the concurrent appearance of another clone with trisomy 8. This latter clone disappeared when the patient received α‐interferon. © 1993 Wiley‐Liss, Inc.
A t(11;12) 11q23 leukemic breakpoint that disrupts the MLL Gene
Authors: Sait Sheila N. Jani , Raimondi Susana C. , Look A. Thomas , Gill Heidi , Thirman Michael , Diaz Manuel O. , Shows Thomas B. 
Published: February 2007

AbstractTranslocations involving 11q23 have been shown to be a consistent finding in human hematopoietic malignancies and in some constitutional abnormalities. The identification of a gene, MLL (myeloid/lymphoid or mixed‐lineage leukemia), that spans the breakpoints in four different recurrent 11q23 translocations was recently reported. We describe a rare (11;12)(q23;p13) translocation, observed in leukemic cells from a patient with acute lymphoblastic leukemia, which also disrupts this gene. © 1993 Wiley‐Liss, Inc.
Deletion of chromosome 11 and of 14q sequences in neuroblastoma
Authors: Srivatsan Eri S. , Ying Kuang Lin , Seeger Robert C. 
Published: February 2007

AbstractRestriction fragment length polymorphism (RFLP) analysis carried out on 45 primary neuroblastomas showed deletion of chromosome 11 sequences in 12 of 37 (32%) informative cases. Both 11p and 11q probes were informative in seven tumors; loss of all of chromosome 11, of only 11p sequences, and of only 11q sequences was observed in 4, 1, and 2 tumors, respectively. A cytogenetic abnormality involving translocation of chromosome arm 11q to chromosome arm 1p was observed in a primary tumor. Deletion of 14q was observed in 6 of 27 (22%) informative cases. Deletion of chromosome 11 but not 14q may correlate with regional and metastatic disease. These results suggest a possible role for sequences localized to chromosome 11 and to 14q in the development and/or progression of neuroblastoma. © 1993 Wiley‐Liss, Inc.
Molecular analysis of a t(11;14)(q23;q11) from a patient with null‐cell acute lymphoblastic leukemia
Authors: Burnett Robert C. , Espinosa Rafael , Shows Thomas B. , Eddy Roger L. , Lebeau Michelle M. , Rowley Janet D. , Diaz Manuel O. 
Published: February 2007

Abstract/1p;&‐3qChromosome 11, band q23, is the frequent site of recurring cytogenetic rearrangements in human leukemia. We have cloned and sequenced the breakpoint junctions from a patient who had null‐cell acute lymphoblastic leukemia (ALL) with a t(11;14)(q23;q11). The chromosome 14 breakpoints occurred within the TCRD locus, close to two diversity segments. The chromosome 11 breakpoint occurred between two head‐to‐head heptamer sequences, and junctional diversity was evident at both derivative junctions, suggesting involvement of the V(D)J recombinase. The TCRA/D locus on the normal chromosome 14 had undergone a Vδ2‐Dδ3‐ΨJα joining. Two phage clones with this VDJ rearrangement were isolated; one of these contained an intra‐Jα region deletion. Two clones with the derivative 11 junction were isolated; one of these had a similar, but not identical, deletion. A heptamer‐nonamer recognition sequence (located ∼70 kb 5′ to Cα), not associated with a TCR gene coding segment, was found in the immediate vicinity of both 5′ breakpoints. We have designated this sequence 5′del for 5′ deleting element. An intra‐Jα region deletion involving this heptamer‐nonamer was previously identified in the leukemia cells recovered from a patient who had T‐cell ALL. Fifty kilobases of DNA on 11q23 surrounding the breakpoint were cloned and analyzed. No CpG islands or conserved sequences were identified within this region. Fluorescence in situ hybridization analysis showed that this 11q23 breakpoint mapped distal to the MLL gene associated with the recurring breakpoints in the 4;11, 9;11, and 11;19 translocations, distal to the RCK gene associated with an 11;14 translocation, and proximal to the ETSI gene, which is located at 11q24. © 1993 Wiley‐Liss, Inc.
Telomeric associations in a patient with B‐cell prolymphocytic leukaemia
Authors: Howell Rodney T. , Kitchen Clare , Standen Graham R. 
Published: February 2007

AbstractTelomeric associations were determined in bone marrow preparations from a patient with B‐cell prolymphocytic leukaemia and a clonal isochromosome of the long arm of chromosome 17. Thirteen associations involved 16 chromosome arms, with preferential involvement of the short arm of chromosome 19 and the long arm of 17. © 1993 Wiley‐Liss, Inc.
Translocation (11;22)(p13;q12): Primary change in intra‐abdominal desmoplastic small round cell tumor
Authors: Biegel Jaclyn A. , Conard Katrina , Brooks John J. 
Published: February 2007

AbstractWe present the cytogenetic findings in a case of a newly described tumor of childhood, intra‐abdominal desmoplastic small round cell tumor (IADSRCT). The karyotype demonstrated a single chromosomal translocation, (11;22)(p13;q12). © 1993 Wiley‐Liss, Inc.
Hypermutation of the MYC gene in diffuse large cell lymphomas with translocations involving band 8q24
Authors: Bradley John F. , Rothberg Paul G. , Ladanyl Marc , Chaganti R. S. K. 
Published: February 2007

AbstractThe sequence of the exon 1/intron 1 boundary region of the MYC gene was determined in two diffuse large cell lymphomas (DLCL), one with t(8;14) (q24;q32) and the other with t(8;22) (q24;q11). Both tumors had multiple mutations in this region. Also, both tumors had mutations in the protein binding site in intron I, which is a frequent target for mutational inactivation in endemic Burkitt's lymphoma (eBL). The translocations at 8q24, and multiple mutations in the exon 1/intron 1 boundary region, are reminiscent of similar findings in eBL. The same underlying oncogenic event that occurs in most eBLs is thus found in some DLCLs. © 1993 Wiley‐Liss, Inc.
Clonal t(8;14)(p11;q31) in a case of reactive lymphoproliferation
Authors: Zhang Yanming , Schlegelberger Brigitte , Plendl Hansjörg , Sonnen Ruth , Kuse Rolf , Feller Alfred C. , Grote Werner 
Published: February 2007

AbstractA clone with an unbalanced translocation t(8;14)(p11;q31), resulting in deletion of the distal part of the long arm of chromosome 14, 14q31 → 14qter, was detected in a case of Piringer's lymphadenitis. Histopathologically no atypical cells or other signs of malignant lymphoma were found. Southern blot analyses showed no rearrangement of the immunoglobulin heavy chain gene (IGH) or the T‐cell receptor γ chain (TCRG) gene. The case exemplifies that the detection of a chromosomally aberrant clone does not necessarily prove that a lymphoproliferative process is malignant. © 1993 Wiley‐Liss, Inc.
Clonal chromosome abnormalities in human breast carcinomas I. Twenty‐eight cases with primary disease
Authors: Thompson Floyd , Emerson Julia , Dalton William , Yang Jin‐Ming , McGee Daniel , Villar Hugo , Knox Sally , Massey Kathy , Weinstein Ronald , Bhattacharyya Achyut , Trent Jeffrey 
Published: February 2007

AbstractCytogenetic analysis was performed on a selected series of short‐term cultures of primary breast carcinomas from 28 patients. All patients had histopathologically confirmed malignancies, with the majority (25/28 cases) demonstrating infiltrating ductal carcinoma. All 28 cases evidenced clonal chromosome abnormalities, with 10/28 displaying only numeric aberrations, whereas 18/28 displayed clonal structural alterations. In near‐diploid tumors the most common numeric changes were — 17 and — 19. However, trisomy 7 was the only numeric change in two near‐diploid tumors. Structural chromosome alterations were primarily isochromosomes, apparent terminal deletions, and unbalanced non‐reciprocal translocations. Chromosomes 1 (10/18–56%) and 6 (8/18–44%) were most frequently altered in this series. Breakpoints of clonal structural abnormalities were shown to cluster to several chromosome segments, including 1p22‐q11, 3p11, 6p11–13, 7p11‐q11, 8p11‐q11, and 19q13. Analysis of the gain or loss of specific chromosome segments revealed that the most consistent tendency was over‐representation of 1q, 3q, and 6p. © 1993 Wiley‐Liss, Inc.
Co‐amplification of the gene for parathyroid hormone‐related protein (PTHRP) and KRAS2 in a human lung cancer cell line
Authors: Rudduck Christina , Duncan Lisa , Center Rob , Garson O. Margaret 
Published: February 2007

AbstractParathyroid hormone‐related protein (PTHRP) is expressed in a large number of tumors and is the mediator of parathyroid hormone‐like effects seen in humoral hypercalcemia of malignancy. The gene coding for PTHRP has been localised to the short arm of chromosome 12. This is at the same region as the oncogene KRAS2, and amplification of KRAS2 has previously been found in human lung cancer. The BEN cell line which is known to express PTHRP was established from a patient who had squamous cell carcinoma of the lung with hypercalcemia. Cytogenetic analysis of the BEN cell line revealed a very complex karyotype with many marker chromosomes. Chromosomal in situ hybridization with biotinylated DNA probes visualized by a biotin‐streptavidin‐polyalkaline‐phosphatase complex was used to analyse two dicentric marker chromosomes containing homogeneously staining regions (hsr) in BEN. The hsr were found to contain amplified PTHRP and KRAS2 at levels of 30‐fold and 14‐fold per cell, respectively. The higher level of amplification of the PTHRP gene would suggest that PTHRP is the target gene of amplification in the amplicon. This is the first report of gene amplification of PTHRP and in addition its co‐amplification with KRAS2. © 1993 Wiley‐Liss, Inc.