bluuebunny/crossref_metadata_2025_split huggingface dataset:
Changes in mean telomere length in basal cell carcinomas of the skin
Authors: Wainwright Linda J. , Rees Jonathan L. , Middleton Peter G. 
Published: February 2007

AbstractHuman telomeres consist of arrays of the sequence TTAGGG up to 15–20 kb in length, which are essential for the maintenance of normal chromosomal stability. It has been suggested that genomic instability observed in tumours may be due to loss of telomere sequences. Somatic cells that are dividing continuously appear to progressively lose telomere sequences, and it would therefore be anticipated that cell type specific differences in mean telomere length may exist within an individual. Previous reports have suggested that mean telomere length may be different in human neoplasia when compared to control. Basal cell carcinomas are epidermal derived tumours and in order therefore to make valid cell type specific comparisons we have measured mean telomere length in 20 basal cell carcinomas as well as in both adjacent epidermis and dermis. Mean telomere length was significantly reduced in epidermis in comparison with dermis, from clinically normal skin immediately adjacent to the tumours (mean difference 2.5 kb). This result is not related to the presence of the tumour as similar results were obtained from skin samples of healthy volunteers. Basal cell carcinomas showed increased mean telomere length in 13/20 samples in comparison with matched epidermis (mean difference 3.1 kb), whereas in 7/20 mean telomere length was reduced (mean difference 2.2 kb). These results showing that mean telomere length varies from cell type to cell type underpin the importance of performing cell type specific controls when assessing changes in tumour telomeres.
Amplification of the met gene in glioma
Authors: Fischer Ulrike , Müller Hans‐W. , Sattler Hans‐P. , Zang Klaus D. , Meese Eckart , Feiden Klaus 
Published: February 2007

AbstractWe have previously reported the finding of MET amplification linked to double minutes (dmins) in a human glioblastoma (TX3095). Because dmins are found in approximately 50% of glioblastomas, 18 gliomas were analyzed for MET amplification. Three grade IV glioblastomas and one grade II astrocytoma showed amplification. We could also localize the MET amplicon to dmins in glioblastoma TX3095 by fluorescence in situ hybridization.
Identification of cytogenetically undetected 12p13 translocations and associated deletions with fluorescence in situ hybridization
Authors: Kobayashi Hirofumi , Rowley Janet D. 
Published: February 2007

AbstractWe performed fluorescence in situ hybridization (FISH) on bone marrow or peripheral blood cells thought to contain a del(12p) or an unbalanced 12p11–12 translocation from 17 patients who had various hematologic malignant diseases. We used 11 cosmid, phage, and plasmid probes which we had previously ordered on 12p. Cells from three patients with myeloid disorders were shown to have 12p13 translocations that involved chromosome 2 in two of them. Moreover, in all patients, FISH showed that the translocations were associated with proximal interstitial deletions which contributed to the difficulty in identifying these translocations. Our data suggest that some rearrangements of 12p which have been described previously as deletions or unbalanced translocations may, in fact, represent 12p13 translocations accompanied by an interstitial deletion.
Detection of hidden structural rearrangements by fish in pleomorphic adenomas
Authors: Sahlin Pelle , Mark Joachim , Stenman Göran 
Published: February 2007

AbstractPrevious cytogenetic analysis of pleomorphic adenomas of the salivary glands has revealed a subgroup of tumors with interstitial deletions of 8q with breakpoints at q12 and q21–23. In this paper we have re‐examined four adenomas with confirmed or suspected deletions of 8q by FISH. Painting of interphase nuclei and metaphase chromosomes with whole chromosome libraries revealed that in each of the four cases the deleted chromosome 8 material was found inserted or translocated onto other chromosomes. In two of the cases we were also able to resolve several other complex rearrangements. Our FISH data thus suggest that gross deletions of 8q do not occur in pleomorphic adenomas. These observations are of crucial importance for the molecular interpretations of the 8q12 rearrangements. The fact that all rearrangements with breakpoints at 8q12 seem to be translocations or insertions strongly indicates that they involve a similar molecular mechanism. Our findings illustrate that chromosome painting is a valuable and useful adjunct to conventional cytogenetic analysis of solid tumors.
Karyotypic characterization of colorectal adenocarcinomas
Authors: Bardi Georgia , Sukhikh Tatiana , Pandis Nikos , Fenger Claus , Kronborg Ole , Heim Sverre 
Published: February 2007

AbstractCytogenetic analysis of short‐term cultures from 52 primary colorectal adenocarcinomas revealed clonal chromosome aberrations in 45 tumors, whereas the remaining 7 had a normal karyotype. More than 1 abnormal clone was detected in 26 tumors; in 18 of them, the clones were cytogenetically unrelated. The modal chromosome number was near‐diploid in 32 tumors and near‐triploid to near‐tetraploid in 13. Only numerical aberrations were identified in 13 carcinomas, only structural aberrations in 3, and 29 had both numerical and structural changes. The most common numerical abnormalities were, in order of decreasing frequency, gains of chromosomes 7, 13, 20, and Y and losses of chromosomes 18, Y, 14, and 15. The structural changes most often affected chromosomes 1, 17, 8, 7, and 13. The most frequently rearranged chromosome bands were, in order of decreasing frequency, 13q10, 17p10, 1p22, 8q10, 17p11, 7q11, 1p33, 7p22, 7q32, 12q24, 16p13, and 19p13. Frequently recurring aberrations affecting these bands were del(1)(p22), i(8)(q10), i(13)(q10), and add(17)(p11–13). The most common partial gains were from chromosome arms 8q, 13q, and 17q and the most common partial losses from chromosome arms 1p, 8p, 13p, and 17p. A correlation analysis between the karyotype and the clinicopathologic features in our total material, which consists of altogether 153 colorectal carcinomas, including 116 with an abnormal karyotype, showed a statistically significant association (P < 0.05) between the karyotype and tumor grade and site. Carcinomas with structural chromosome rearrangements were often poorly differentiated; well and moderately differentiated tumors often had only numerical aberrations or normal karyotypes. Abnormal karyotypes were more common in rectal carcinomas than in carcinomas situated higher up. Near‐triploid to near‐tetraploid karyotypes were more than twice as frequent in tumors of the distal colon as in those of the proximal colon and rectum. The cytogenetic data indicate that carcinomas located in the proximal colon and rectum, which often are near‐diploid with simple numerical changes and cytogenetically unrelated clones, probably arise through different mechanisms than do tumors located in the distal colon, which more often have complex near‐triploid to near‐tetraploid karyotypes.
11q13 Amplification in local recurrence of human primary breast cancer
Authors: Champème Marie‐Hélène , Bièche Ivan , Lizard Sarab , Lidereau Rosette 
Published: February 2007

AbstractBreast cancer can relapse both locally and at distant metastatic sites. The mechanism of Iocal recurrence is unknown, but seems to be due not only to the number of residual cancer cells (inadequate irradiation or surgery), but also to their genetically determined malignant potential. To identify genetic alterations associated with local recurrence risk in breast carcinoma, we analyzed 28 local recurrences and 173 primary breast tumors for the ten most frequently altered genetic regions in breast carcinomas, i.e., loss of heterozygosity on chromosomal arms 1p, 3p, 7q, 11p, 17p, 17q, and 18q, and amplification of the MYC and ERBB2 protooncogenes and of genes in 11q13. Only INT2/FGF3 and CCND1, located in 11q13, were more frequently amplified in local recurrences than in primary tumors (39% vs. 17%; P < 0.01). Moreover, recurrence‐free survival was shorter when the 11q13 region was amplified. These results suggest that one or more genes located in 11q13 play an important role in local relapses of breast cancer.
Atypical cytogenetic aberrations in two childhood peripheral primitive neuroectodermal Tumors
Authors: Murray Jeffrey C. , Langston Claire , Dreyer Zoann E. , Stephenson Charles T. , Pokorny William J. , Horowitz Marc E. , Cooley Linda D. 
Published: February 2007

AbstractAtypical cytogenetic abnormalities were detected in peripheral primitive neuroectodermal tumors (PPNET) of the extremity in two children. One had an osseous tumor with a balanced reciprocal translocation, t(5;9)(q22;q32), and had a complete response to therapy. The other had a non‐osseous tumor with an interstitial deletion, del(18)(q12.2q21.2), was resistant to combination therapy, and at autopsy had evidence of possible clonal evolution with the karyotype 46,XX der(8)t (8;8)(p11.2;q13), inv(16)(p13.2q12), del(18)(q12.2q21.2). Neither tumor demonstrated the t(11;22)(q24;q12) typically found in Ewing's sarcoma and PPNET, suggesting heterogeneity of the cytogenetic aberrations seen in this rare childhood malignancy.
Consistent presence of isochromosome 7q in hepatosplenic t γ/δ lymphoma: A new cytogenetic‐clinicopathologic entity
Authors: Wang Chuan‐Cheng , Tien Hwei‐Fang , Lin Ming‐Tseh , Su Ih‐Jen , Wang Chiu‐Hwa , Chuang Sou‐Ming , Shen Ming‐Ching , Liu Chen‐Hui 
Published: February 2007

AbstractPeripheral T‐cell lymphoma (PTL), which is characterized by hepatosplenic presentation and the γ/δ T‐cell receptor (TCR) phenotype on the malignant cells, is a rare but distinct subtype of non‐Hodgkin's lymphomas. Little is known about the chromosomal changes in these lymphomas. We report the cytogenetic analysis of three patients who had neoplastic proliferation of T γ/δ cells in the spleen, bone marrow, and liver, but not in lymph nodes or skin. Isochromosome 7q and trisomy 8 were observed in all three patients. Isochromosome 7q as the sole abnormality has been previously reported in one patient with similar clinicopathologic features. It is suggested that i(7q) is a primary, nonrandom chromosomal abnormality in hepatosplenic T γ/δ PTL.
Deletion of chromosome arm 17p dna sequences in pediatric high‐grade and juvenile pilocytic astrocytomas
Authors: Willert Jennifer R. , Daneshvar Laleh , Sheffield Val C. , Cogen Philip H. 
Published: February 2007

AbstractIn adults, loss of heterozygosity for DNA on 17p has been shown in high‐grade anaplastic astrocytomas (AAs) and glioblastomas multiforme (GMs), and mutation of the TP53 tumor suppressor gene has been reported in all grades of astrocytomas. Little is known, however, about 17p deletion and TP53 mutation in juvenile pilocytic astrocytomas (JPAs), the most common low‐grade tumors seen in children. To elucidate the genetic characteristics of pediatric high‐grade astrocytomas and JPAs, we performed restriction fragment length polymorphism analysis with probes derived from 17p and TP53 mutational studies in 28 tumor specimens. Telomeric chromosome arm 17p markers 144‐D6 and ABR were lost in 6 (75%) of 8 informative tumors classified as high‐grade (7 AAs, 1 GM) and in 2 (10%) of 20 informative JPAs. Loss of 17p probes centromeric to the TP53 gene were also detected in 3 AAs and 5 JPAs. Four of the 6 (66%) JPAs with losses of 17p DNA sequences recurred rapidly despite aggressive therapy, whereas only 5 of the other 14 (36%) recurred. Mutation of the TP53 gene was detected by polymerase chain reaction and denaturing gradient gel electrophoresis in only 1 JPA and 1 AA. These tumors were also examined for MDM2 gene amplification as an alternate inactivation mechanism for TP53 gene function: no instances of alteration were identified. These results suggest that a gene or genes in addition to TP53 on 17p may be involved in the etiology or progression of high‐grade astrocytomas and aggressive JPAs in children. Further, molecular genetic studies may be an important supplement to current clinical and radiologic data in predicting the outcome and guiding the therapy of children with aggressive and malignant astrocytomas.
New translocation t(2;13)(p12;q34) and rearrangement of the MLL gene in a childhood leukemia cell line
Authors: Kees Ursula R. , Campbell Lynda J. , Ford Jette , Willoughby Michael L. N. , Peroni Susanne E. , Ranford Pamela R. , Garson O. Margaret 
Published: February 2007

AbstractHere we report the case of a 7‐month‐old boy who presented with biphenotypic acute leukemia, but with leukemia cells of B‐cell phenotype present at the time of relapse. Two cell lines were derived from bone marrow specimens obtained at relapse, and immunophenotyping and analysis of antigen receptor gene configuration revealed concordance between the patient's leukemic cells and the cell lines. Cell line PER‐377 shows a new chromosomal abnormality, t(2;13)(p12;q34), a molecular rearrangement at chromosome band 11q23 in the absence of a cytogenetically detectable abnormality of this band, and deletion of the genes for IGK.
Identification of gains and losses of DNA sequences in primary bladder cancer by comparative genomic hybridization
Authors: Kallioniemi Anne , Kallioniemi Olli‐P. , Citro Gil , Sauter Guido , Devries Sandy , Kerschmann Russell , Caroll Peter , Waldman Fred 
Published: February 2007

AbstractComparative genomic hybridization (CGH) makes it possible to detect losses and gains of DNA sequences along all chromosomes in a tumor specimen based on the hybridization of differentially labeled tumor and normal DNA to normal human metaphase chromosomes. In this study, CGH analysis was applied to the identification of genomic imbalances in 26 bladder cancers in order to gain information on the genetic events underlying the development and progression of this malignancy. Losses affecting 11p, 11q, 8p, 9, 17p, 3p, and 12q were all seen in more than 20% of the tumors. The minimal common region of loss in each chromosome was identified based on the analysis of overlapping deletions in different tumors. Gains of DNA sequences were most often found at chromosomal regions distinct from the locations of currently known oncogenes. The bands involved in more than 10% of the tumors were 8q21, 13q21‐q34, 1q31, 3q24‐q26, and 1p22. In conclusion, these CGH data highlight several previously unreported genetic alterations in bladder cancer. Further detailed studies of these regions with specific molecular genetic techniques may lead to the identification of tumor suppressor genes and oncogenes that play an important role in bladder tumorigenesis.
Concurrent presence of inv(14)(q11q32) and t(4;11)(q21;q23) in Pre‐B Acute Lymphoblastic leukemia
Authors: Chervinsky David S. , Grossi Mauro , Kakati Surabhi , Block Annemarie W. , Aplan Peter D. 
Published: February 2007

AbstractThe inv(14)(q11q32) is a non‐random chromosomal aberration which has been associated with a variety of T‐cell malignancies. We have studied a case of inv(14)(q11q32) that is unique in several respects. First, the inversion, which is expressed at the mRNA level, occurred in the context of a pre‐B acute lymphoblastic leukemia (ALL) as opposed to a T‐cell malignancy. Second, cloning and sequencing of the inversion revealed that it resulted from a fusion between an immunoglobulin heavy chain variable (V) segment and a T‐cell receptor delta diversity (D) segment. In addition, the patient had a second chromosomal abnormality at diagnosis, a t(4;11)(q21;q23) which disrupted the MLL gene. The fact that there were two distinct chromosomal abnormalities at diagnosis enabled us to address the question of leukemic clonal evolution during the course of this patient's disease. We present evidence suggesting that the t(4;11)(q21;q23) occurred first, with the inv(14)(q11q32) occurring as a second event.
Spontaneous loss of ph chromosome with maintenance of clonal hemopoiesis in an untreated patient with myeloproliferative disease and a long survival
Authors: Luppi Mario , Morselli Monica , Emilia Giovanni , Temperani Paola , Marasca Roberto , Barozzi Patrizia , Selleri Licia , Torelli Giuseppe 
Published: February 2007

AbstractThe unusual case of myeloproliferative disease described here is characterized by the following features: (1) a clinically completely silent course for 11 years without splenomegaly, marrow fibrosis, or cellular morphologic alterations; (2) the presence, at the onset, of a Philadelphia (Ph) chromosome without DNA breakpoints in the M‐bcr region; (3) the spontaneous loss of detectable Ph‐positive cells, 5 years after the first finding of leukocytosis, in the absence of any therapy; (4) the maintenance of the clonal nature of hematopoiesis, as revealed by the PGK X‐linked inactivation pattern, in the absence of the Ph chromosome; and (5) a biphasic trend in the levels of leukocytes, red cells, and platelets during the years of observation.
An Alu VpA Marker on chromosome 1 demonstrates that replication errors manifest at the adenoma‐carcinoma transition in sporadic colorectal tumors
Authors: Young Joanne , Searle Jeffrey , Buttenshaw Ron , Thomas Lesley , Ward Michael , Chenevix‐Trench Georgia , Leggett Barbara 
Published: February 2007

AbstractWidespread mutations in simple tandemly repeated (STR) DNA sequences are frequently found in colorectal tumors from patients with hereditary non‐polyposis colorectal cancer (HNPCC) and less frequently in sporadic colorectal cancers. The aims of this study were to determine the type of DNA sequence most commonly affected by such mutations and to examine the point in the natural history of the tumor where replication errors (RERs) appear. An unselected series of colorectal tumors (49 adenomas and 108 carcinomas) was examined with 4 different STR markers: one Alu VpA polymorphism (MYCL1), one tetranucleotide repeat (D17S846), one dinucleotide repeat (D3S1029), and one polyA repeat (APΔ3Δ). All 3 positive adenomas and 18 of 20 positive carcinomas showed replication errors in the Alu VpA sequence at the MYCL1 locus, making this marker more than twice as sensitive as the best of the other 3 markers. Importantly, all positive adenomas showed small foci of carcinoma in situ. This suggests that replication errors manifest at the adenoma/carcinoma transition in sporadic colorectal tumors.
Two tumor suppressive loci on chromosome 10 involved in human glioblastomas
Authors: Steck Dr.Peter A. , Ligon Azra Hadi , Cheong Paul , Yung W. K. Alfred , Pershouse Mark A. 
Published: February 2007

AbstractA number of cytogenetic and molecular analyses have revealed very frequent and extensive losses of regions of chromosome 10 in human glioblastomas. Our recent studies have demonstrated that the transfer of a chromosome 10 into human glioblastoma cells resulted in suppression of their transformed and tumorigenic phenotype. To localize the suppressive region further, we isolated and characterized certain hybrid cells that had undergone chromosomal rearrangements to yield hybrid cells retaining only various regions of the inserted chromosome 10. One series of subclones showed the loss of the majority of the long arm of chromosome 10 (10q21‐10qter) and regained the ability to grow under anchorage‐independent conditions, but the cells still failed to exhibit significant tumorigenicity in nude mice. Another set of subclones exhibited major deletions of large segments of the long arm of chromosome 10 (10q21‐q23; 10q26‐qter), yet retained certain distal alleles associated with 10q24 to 10q26. These subclones were identical in their biological characteristics to the hybrids containing an intact chromosome 10, exhibiting no growth in soft agarose or in nude mice. These results implicate the presence of two independent phenotypically suppressive regions on chromosome 10 (10pter‐q11 and 10q24‐q26) that are involved in glioma progression.
Electrophoretic isolation of extrachromosomal DNA from tumor cells
Authors: Vandevanter Donald R. , Tseng John C.‐H. , Yirdaw Getachew 
Published: February 2007

AbstractGene amplification allows transformed cells to overexpress specific genes and gain a survival advantage. For this reason, cloning and characterization of amplified genes can improve our understanding of the biology of transformed cells. The techniques of in‐gel renaturation and chromosome microdissection can enrich for amplified DNA sequences, but both are labor intensive and have other drawbacks. We have developed an alternative strategy of enriching for amplified DNA sequences that involves two‐directional agarose gel electrophoresis of extrachromosomal circular DNA. Extrachromosomal circles can be detected with repetitive DNA probes and can be used to produce DNA probes suitable for fluorescence in situ hybridization for location of genomic origin. The ability to enrich for amplified DNA without specialized equipment or transformed cell metaphases should prove useful in the search for new genes which are important in tumor cell progression.
DNA‐repeat instability is associated with colorectal cancers presenting minimal chromosome rearrangements
Authors: Remvikos Yorghos , Vogt Nicolas , Muleris Martine , Salmon Rémy J. , Malfoy Bernard , Dutrillaux Bernard 
Published: February 2007

AbstractThe DNA‐repeat [(CA)n] instability of colorectal cancer cells was studied relative to our previously defined classification based on chromosome alterations. Of the 23 tumors analyzed, 13 belonged to the “monosomic” type (MT) characterized by simultaneous loss of chromosome 18 and chromosome arm 17p, and many structural rearrangements, 7 to the “trisomic” type (TT) with many chromosome gains but few rearrangements, and 3 had a normal karyotype (NT). (CA)n repeat sequences were examined on chromosomes 2, 5, 11, 13, 18, and 20. We found sequence alterations in 12 tumors at 1 or several loci, 9 of which (1/13 MT, 5/7 TT, and 3/3 NT) exhibited a typical shift in allele size defined as microsatellite instability. Furthermore, a single alteration was observed for the MT tumor, whereas one NT tumor displayed instability on two and all the other tumors on three or more loci. These results suggest an inverse relationship between the occurrence of chromosome structural rearrangements and microsatellite instability, providing another argument for the subdivision of colorectal cancers into groups of distinct oncogenic pathways.