bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cytogenetic studies in sporadic and multiple endocrine neoplasia type 1‐associated pituitary adenomas
Authors: Papi Laura , Baldassarri Gabriella , Montali Enrico , Bigozzi Umberto , Ammannati Franco , Brandi Maria Luisa 
Published: February 2007

AbstractFour sporadic and two multiple endocrine neoplasia type 1‐associated pituitary adenomas were studied. A t(1;21)(q32;22) was discovered in one of the two hereditary tumors. © 1993 Wiley‐Liss, Inc.
Frequent loss of 11p13 and 11p15 loci in male germ cell tumours
Authors: Lothe Ragnhild A. , Hastie Nick , Heimdal Ketil , Fosså Sophie D. , Stenwig Anna Elisabeth , Børresen Anne‐Lise 
Published: February 2007

AbstractDeletions within the short arm of the human chromosome 11 have been found to be involved in the genesis of several tumours, including different urogenital neoplasms. We have studied 31 male germ cell tumours (19 seminomas and 12 nonseminomas), and observed loss of heterozygosity at 11p loci in 40% (12/30) of these tumours [35% (9/26) at 11p13 and 31% (8/26) at 11p15]. Our data suggest that inactivation of one or more tumour suppressor genes on 11p are involved in the genesis of testicular cancer. In addition, identification of the parental origin of the allelic losses revealed a paternal loss in six patients and a maternal loss in one case. © 1993 Wiley‐Liss, Inc.
Use of the single‐strand conformation polymorphism technique to detect loss of heterozygosity in neuroblastoma
Authors: White Peter S. , Kaufman Bruce A. , Marshall Helen N. , Brodeur Garrett M. 
Published: February 2007

AbstractHuman neuroblastomas are characterized by cytogenetic and molecular analysis as frequently containing deletions of distal 1p. Loss of heterozygosity (LOH) studies have localized a region of shared deletion to 1p35–36.1. Using the single‐strand conformation polymorphism (SSCP) technique, we developed polymorphic assays for two genes, the amiloride‐sensitive Na+/H+ antiporter (APNH) and tumor necrosis factor receptor 2 (TNFR2) genes, which map to this region. We used these SSCPs to detect LOH in a panel of neuroblastomas. Allelic loss was readily detected in 8 of 39 informative tumors. The SSCP‐derived LOH results were consistent with LOH results generated from a set of distal 1p probes that identify restriction fragment length polymorphisms (RFLPs). The APNH locus could be excluded from the region of consistent deletion, but the TNFR2 locus could not be excluded. We conclude that the SSCP technique is a precise and efficient method for detecting LOH in human neoplasia. © 1993 Wiley‐Liss, Inc.
In situ hybridisation analysis of a homogeneously staining region at 11q23–24 in an acute myeloid leukaemia (M5) using yeast artificial chromosomes
Authors: Nacheva Elisabeth , Kearney Lyndal , Bower Mark , Chaplin Tracy , Douek Edward , Das Soma , Young Bryan D. 
Published: February 2007

AbstractAn example of a homogeneously staining region (hsr), occurring in an acute myeloid leukaemia (M5) on chromosome 11 in the region of bands q23–q24, has been analysed. In situ hybridisation using yeast artificial chromosome (YAC) DNA demonstrated that the amplification did not include the CD3 gene cluster and did not affect the human trithorax gene known to be disrupted by translocations at 11q23. In contrast, the amplification was shown to include the sequence D11S543 which has been previously mapped to chromosome band 11q24. High resolution analysis using confocal microscopy allowed the individual amplicons to be visualised, and it was shown that the hsr consisted of an 8‐fold amplification of the region surrounding the probe D11S543. From previous estimates of human chromosome size it was possible to calculate that the hsr was composed of amplicons approximately 10 megabases in length. It was concluded that the region amplified did not extend as far as the translocation breakpoints occurring at 11q23 in acute leukaemias. © 1993 Wiley‐Liss, Inc.
Do terminal deletions of 11q23 exist? Identification of undetected translocations with fluorescence in situ hybridization
Authors: Kobayashi Hirofumi , Espinosa Rafael , Thirman Michael J. , Fernald Anthony A. , Shannon Kevin , Diaz Manuel O. , le Beau Michelle M. , Rowley Janet D. 
Published: February 2007

AbstractFluorescence in situ hybridization (FISH) was performed on bone marrow or peripheral blood cells thought to contain a del(11)(q23q25) from four patients who had acute leukemia or myelodysplasia. Cells from all patients were shown to contain translocations that involved chromosome 6 in three of them. Our data suggest that a large proportion of presumptive del(11)(q23) or del(11)(q23q25) chromosomes may represent previously unidentified translocations that can be detected by FISH. © 1993 Wiley‐Liss, Inc.
Chromosomal radiosensitivity at intrachromosomal telomeric sites
Authors: Alvarez Luis , Evans James W. , Wilks Rebecah , Lucas Joe N. , Brown J. Martin , Giaccia Amato J. 
Published: February 2007

AbstractTelomeric DNA is composed of highly conserved sequences which are present at the termini of chromosomes as well as at intrachromosomal locations. Here, we studied a Chinese hamster ovary (CHO) cell line, BL‐10, with highly stable amplified telomeric DNA at the termini as well as at intrachromosomal locations. We show that intrachromosomal or interstitial telomeric sites in this cell line and in another CHO cell line, HA‐1, are radiosensitive in that they are more prone to breakage than would be expected based on the percentage of the genome composed of telomeric sequences. The frequency of breakage at interstitial telomeric sites is 4.3 to 8.3 times higher than that in the CHO genome overall. These conclusions are reached by both conventional cytogenetic analysis of two CHO cell lines which have the same survival rates after exposure to ionizing radiation, and by use of double fluorescence in situ hybridization (FISH) with a pan‐telomere‐specific probe and a CHO chromosome‐specific library in the same metaphase cells after irradiation. © 1993 Wiley‐Liss, Inc.
Detection of sex‐region Y (SRY) transcripts in human prostate adenocarcinoma and benign prostatic hypertrophy
Authors: Tricoli James V. , Yao Joyce L. , D'Souza Sharon A. , Bracken R. Bruce 
Published: February 2007

AbstractThe human sex‐region Y (SRY) gene maps to Yp 11.3 and encodes a protein that shares significant sequence homology with a conserved DNA binding motif found in the nonhistone high‐mobility group (HMG) proteins. In the mouse, Sry is required for normal testicular development and is expressed in the developing male gonadal ridge as well as in the adult testis. In man, SRY expression has been observed in the adult testis, but not in other adult male tissues. We have analyzed samples from human prostate adenocarcinoma and benign prostatic hypertrophy (BPH) for the expression of the SRY gene. We found expression of SRY in 60% of malignant prostate tumors and in three of six samples of BPH. We did not find expression in male or female colon mucosa, or in tissue from a cystic ovary. Malignant and atrophic testicular tissue both contained SRY transcript and served as positive controls in these experiments. We also found SRY transcript in the DU‐145 prostate adenocarcinoma cell line. Interestingly, SRY expression is absent in the Tera‐2 teratocarcinoma cell line. The potential for the SRY gene product to bind HMG core response elements in vitro suggests that SRY could participate in the cascade of gene regulatory events that result in aberrant cell growth or malignancy. © 1993 Wiley‐Liss, Inc.
Oligoclonal B‐cell leukemia characterized by spontaneous cell division and telomere association
Authors: Crossen Peter E. , Tully Sandra M. , Benjes Suzanne M. , Hollings Peter E. , Beard Michael E. J. , Nimmo Joy C. , Morrison Mary J. 
Published: February 2007

AbstractCytogenetic analysis of unstimulated cultures from a female patient with chronic B‐cell leukemia (CLL) revealed three cytogenetically distinct clones, suggesting that the patient's leukemia was oligoclonal. Immunoglobulin heavy chain gene rearrangement studies revealed 1 germline and 4 rearranged bands, indicative of an oligoclonal leukemc population. Further evidence of oligoclonality was provided by X‐linked RFLP studies. This is the first report of oligoclonality in CLL demonstrated by cytogenetic, immunoglobulin gene rearrangement, and X‐chromosome inactivation studies. In addition to oligoclonality, the patient's leukemk cells exhibited telomere association, a Robertsonian translocation, and clonal evolution, suggesting an underlying genomic instability. © 1993 Wiley‐Liss, Inc.
Localization of two tyrosine kinase receptor genes with respect to the 5q35 chromosomal breakpoint of Ki‐1 lymphoma cell lines
Authors: Pébusque Marie‐Josèphe , Lafage Marina , Galland Franck , Simonetti Jacqueline , Armstrong Elina , Rimokh Ruth , Birnbaum Daniel 
Published: February 2007

AbstractThe consistency of the breakpoint on chromosome 5 at band 5q35 occurring in Ki‐1 non‐Hodgkin's lymphomas is highly suggestive of the involvement of a locally altered gene in this disease. In this study, we analyzed the potential involvement, in the translocation, of two receptor tyrosine kinase genes and putative oncogenes, FLT4 and FGFR4, previously localized near this breakpoint. Fluorescence in situ chromosomal hybridization allowed us to refine their localization to sub‐band 5q35.3 and to show that both genes are translocated to the derivative chromosomes in Ki‐1 cell lines containing either a t(2;5) or a t(3;5). Pulsed‐field gel electrophoresis showed that the FLT4 and FGFR4 genes are not physically linked, nor are they altered by the translocation. Finally, Northern blot analysis showed that neither FLT4 nor FGFR4 is expressed in the Ki‐1 cell lines, suggesting that they are not implicated in the genesis of Ki‐1 lymphomas. © 1993 Wiley‐Linc, Inc.
Y chromosome loss in esophageal carcinoma: An in situ hybridization study
Authors: Hunter Stephen , Gramlich Terry , Abbott Karen , Varma Vijay 
Published: February 2007

AbstractCarcinoma of the esophagus shows a strong male predominance and other epidemiologic differences from cancers arising at other sites. In this study, the prevalence of Y chromosome loss in 29 carcinomas of the esophagus and 53 carcinomas arising elsewhere in the aerodigestive tract was assessed by in situ hybridization of formalin‐fixed paraffin‐embedded tissue sections. Absence of the Y chromosome was defined as (1) negative staining for Y in neoplastic cells with positive staining for Y in immediately adjacent nonneoplastic epithelial and stromal cells, (2) positive staining of neoplastic cells with control probes for chromosomes X and 17, and (3) similar results at different stringencies and levels of protein digestion. According to these criteria, absence of the Y chromosome was observed in 13 of 14 (93%) adenocarcinomas of the esophagus, 8 of 13 (62%) squamous cell carcinomas of the esophagus, and 5 of 53 (9%) carcinomas arising in other sites. For the neoplasms examined, Y chromosome deletion was strongly and selectively associated with carcinomas, particularly adenocarcinomas, of the esophagus (P < .0001). These findings suggest that Y chromosome loss may be pathogenetically significant in these neoplasms. © 1993 Wiley‐Liss, Inc.
Chromosome 10 allelic loss in malignant melanoma
Authors: Isshiki Koichi , Elder David E. , Guerry Dupont , Linnenbach Alban J. 
Published: February 2007

AbstractThe involvement of tumor suppressor genes in the progression of melanoma has been suggested by the frequent deletion of specific regions of the genome in melanoma. In this study, a panel of 18 surgically removed melanomas from 15 patients was analyzed for loss of heterozygosity (LOH) at 10 polymorphic loci on chromosome 10. LOH was observed in 7 (50%) of 14 informative patients. LOH data suggested that melanomas from 5 patients had lost entire copies of chromosome 10, and that melanomas from 2 patients had lost copies of 10q. In contrast, LOH was not observed on chromosome 15, 20, or 21. These results are consistent with previous cytogenetic observations and provide indirect evidence that there is a tumor suppressor gene on the long arm of chromosome 10 which is relevant to melanoma development. © 1993 Wiley‐Liss, Inc.
Power of the MAC (Morphology‐Antibody‐Chromosomes) method in distinguishing reactive and clonal cells: Report of a patient with acute lymphatic leukemia, eosinophilia, and t(5;14)
Authors: Knuutila Sakari , Alitalo Riitta , Ruutu Tapani 
Published: February 2007

AbstractWe present a patient with acute lymphatic leukemia, eosinophilia, and a 5;14‐translocation, a rare but well‐documented condition. In order to clarify whether granulocytes were involved in the disease, we applied the MAC (Morphology‐Antibody‐Chromosomes) technique to samples of the bone marrow and, during a central nervous system relapse, to those of the cerebrospinal fluid. The karyotype of the blast cells was 47,XY,+X,t(5;14)(q31;q32),i(7)(q10). Interphase cytogenetic study by in situ hybridization with an X‐specific alphoid probe revealed the abnormality in CD10, CD19, and TdT (terminal deoxynucleotidyl transferase) positive lymphoid cells, whereas CD13 positive, Sudan black B positive, eosinophilic, and basophilic granulocytes as well as monocytes and small lymphocytes did not have the abnormality. Our results show that the eosinophilic and basophilic granulocytes in this subtype of acute leukemia do not belong to the malignant clone but are reactive. This study also confirmed the usefulness of the MAC technique in distinguishing neoplastic and reactive cells in malignancy.© 1993 Wiley‐Liss, Inc.
Cytogenetic and molecular analysis of 6q deletions in burkitt's lymphoma cell lines
Authors: Parsa Nasser Z. , Mukherjee Asit B. , Chaganti R. S. K. , Gaidano Gianluca , Hauptschein Robert S. , Dalla‐Favera Riccardo , Lenoir Gilbert 
Published: February 2007

AbstractAlthough abnormalities of chromosome 6 have frequently been observed in Burkitt's lymphoma (BL), they have 50 far not been defined by modern cytogenetic and molecular methods. By a combination of high‐resolution chromosome banding, fluorescence in situ hybridization (FISH), and loss of heterozygosity (LOH) analysis, we have examined the nature of aberrations affecting chromosome 6 in 7 previously established BL cell lines. All cell lines exhibited the characteristic translocations associated with BL; 5 had t(814)(q24;q32) and 2 had t(8;22)(q24;q11). Three cell lines had deletions of 6q; 3 others had rearrangements affecting 6q, whereas one cell line had apparently normal chromosomes 6. FISH analysis of the three deletions established that they were interstitial. LOH analysis with probes mapped to the 6q26‐27 region confirmed the sub‐telomeric interstitial deletion in cell line BL‐108, which had a del(6)(q23q27). All informative loci mapped to 6q26‐27 (5/7) were deleted in BL‐74, which had no apparent cytogenetic abnormality in chromosome 6, thus documenting a sub‐microscopic deletion. These data define the cytogenetic and molecular limits of 6q deletions in BL and are consistent with our previous demonstration of LOH analysis of the site of a candidate tumor suppressor gene in the 6q25‐27 region. Genes Chrom Cancer 9:13‐18 (1994). ©1994 Wiley‐Liss, Inc.
Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses
Authors: Yoshiura Koh‐Ichiro , Inazawa Johji , Koyama Kumiko , Nakamura Yusuke , Niikawa Norio 
Published: February 2007

AbstractA detailed cytogenetic map was constructed around the chromosomal breakpoint of t(8;13) observed in a patient with multiple exostoses. The order of seven loci defined by cosmid clones mapped to 8q23 was determined by means of two‐color fluorescence in situ hybridization (FISH) on elongated prophase chromosomes, and localizations of these markers relative to the breakpoint were examined. The results indicated that loci defined by cC18‐553 and cC18‐1512 flank the breakpoint. By pulsed‐field gel electrophoresis of DNA digested with BssH11 and Southern hybridization with cC18‐1512, DNA from the patient showed a band which was not observed in DNA isolated from either parent. As the normal size of this BssH11 fragment is 600 kb, the chromosomal breakpoint probably lies less than 600 kb away from cC18‐1512. Genes Chrom Cancer 9:57‐61 (1994). © 1994 Wiley‐Liss, Inc.
Abnormalities of chromosome 22 in pediatric meningiomas
Authors: Biegelm Jaclyn A. , Emanuel Beverly S. , Parmiter Annette H. , Sutton Leslie N. , Rorke Lucy B. 
Published: February 2007

AbstractCytogenetic studies of eight meningiomas in young children or adolescents were performed. Two tumors exhibited normal karyotypes. Two tumors from patients with bilateral acoustic neurofibromatosis demonstrated monosomy 22 as the only abnormality. Four patients had more complicated karyotypes in which one or both of the chromosomes 22 were missing or structurally altered. The most common secondary changes in these four tumors involved monosomy or structural abnormalities of Chromosome 6. These findings confirm that the primary cytogenetic changes in meningioma are similar in children and adults. Molecular analyses of pediatric meningiomas with deletions or translocations of chromosome 22 will be useful for identifying the role of chromosome 22 tumor suppressor genes in this disease. Genes Chrorn Cancer 9:81‐87 (1994). © 1994 Wiley‐Liss, Inc.
Chromosome analysis of nine osteosarcomas
Authors: Hoogerwerf W. Alexandra , Hawkins Anita L. , Griffin Constance A. , Perlman Elizabeth J. 
Published: February 2007

AbstractAlthough recurrent chromosome abnormalities have been identified in several histologic subtypes of sarcomas, no consistent rearrangement has yet been found in osteosarcomas. Cytogenetic analyses of nine cases of osteosarcoma are reported, including seven newly diagnosed tumors and two recurrent tumors. There were seven high‐grade osteosarcomas, one periosteal osteosarcoma, and one well‐differentiated sarcoma. All tumors were studied in short‐term primary culture. Modal number ranged from near diploid to near triploid. Seven tumors had complex karyotypes with multiple structural abnormalities; two had only normal karyotypes. The retinoblastoma gene on chromosome 13 and the TP53 gene on chromosome 17 have been involved in osteosarcoma. Five tumors had loss of a whole copy of chromosome 13, and three of these also had a loss of a whole copy of chromosome 17. However, these losses were observed in the setting of numerous other chromosome loses. Numerous structural abnormalities were observed, many involving additions of unidentified material, unbalanced translocations, or deletions. Structural abnormalities with similar breakpoints involving 6q, 8q, 9q, and 14p were seen in two or three tumors each. When the tumors in this series were added to the 18 published cases, the pericentromeric regions of chromosomes 1, 3, and 14, and segments 6q 15‐21, 8q24, 9q34, 12p 13, 17p 13, and 19q 13, were found to be involved in five or more structural rearrangements. Molecular analyses of these chromosome regions may yield genes important in the pathogenesis of osteosarcoma. Genes Chrom Cancer 9:88‐92 (1994).© 1994 Wiley‐Liss, Inc.
Allelotype of uterine cancer by analysis of RFLP and microsatellite polymorphisms: Frequent loss of heterozygosity on chromosome arms 3p, 9q, 10q, and 17p
Authors: Jones Michael H. , Nakamura Yusuke , Koi Sumiko , Fujimoto Lkuno , Hasumi Katsuhiko , Kato Kyoto 
Published: February 2007

AbstractCancers in which mutations have been identified in putative tumor suppressor genes, such as the TP53 gene, the retinoblastoma (RBI) gene, the adenomatous polyposis coli (APC) gene, and the Wilms tumor (WTI) gene, frequently show loss of the corresponding allele on the homologous chromosome. To identify locations of tumor suppressor genes involved in uterine cancer, we examined loss of heterozygosity (LOH) by using genomic probes detecting RFLPs in 35 uterine cancers at 29 loci throughout the genome, and with highly informative microsatellite markers in 21 uterine cancers at nine putative or known tumor suppressor gene loci. High frequencies of allelic loss found at loci on 3p (71%), 9q (38%). 10q (35%). and 17p (35%) suggest that tumor suppressor genes involved in uterine carcinogenesis exist in these regions. There were no significant differences in frequencies of LOH between cancers of the uterine cervix and cancers of the uterine endometrium at any of the loci tested. Genes Chrom Cancer 9:119‐123 (1994).© 1994 Wiley‐Liss, Inc.
CGG‐repeat polymorphism of the BCR gene rules out predisposing alleles leading to the philadelphia chromosome
Authors: Riggins Gregory J. , Warren Stephen T. , Sherman Stephanie L , Phillips Carol N. , Stock Wendy , Westbrook Carol A. 
Published: February 2007

AbstractThe Philadelphia Chromosome (Ph) is associated with leukemia, most frequently of the chronic myelogenous variety. The Ph chromosome is a translocation Chromosome which gains oncogenic potential through the fusion of the ABL oncogene of chromosome 9 with the BCR gene of chromosome 22. The Ph is believed to arise from random chromosome rearrangement with a subsequent selective advantage of the malignant cell line. However, alleles may be present in the population which predispose toward this specific rearrangement. We used a highly polymorphic CGG‐repeat polymorphism within the first exon of the BCR gene to determine BCR allele frequencies among 26 leukemia patients with the Ph chromosome and 63 control individuals. Eight BCR alleles of variable CGG‐repeat length were present in both groups at statistically similar frequencies and in Hardy‐Weinberg equilibrium. We therefore concluded that there are no alleles of the BCR gene that have a major predisposing influence on the development of the ph chromosome and subsequent leukemia Genes Chrom Cancer 9:141‐144 (1994). Inc.© 1994 Wiley‐Liss, Inc.
Band 11 q 13 is nonrandomly rearranged in hibernomas
Authors: Mrœzek Krzysztof , Karakousis Constantine P. , Bloomfield Clara D. 
Published: February 2007

AbstractCytogenetic study of a short‐term culture from a hibernoma, a very rare benign proliferation of the brown fat, demonstrated a four‐break translocation t(5;7;11;17)(p14;q11.23;q13.1‐13.3;p11.2) as the sole abnormality in all analyzed cells. Complex translocations involving band 11 q 13 have also been detected in the two other published cases of hibernoma. The consistent finding of 11 q 13 rearrangements appears to distinguish hibernoma from other benign adipose tissue tumors cytogenetically and suggests that 11 q 13 changes may play an important role in hibernoma pathogenesis. Genes Chrom Cancer 9:145‐147 (1994). Inc.© 1994 Wiley‐Liss, Inc.
Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I
Authors: Gutmann David H. , Cole Jeffery L. , Stone William J. , Ponder Bruce A. J. , Collins Francis S. 
Published: February 2007

AbstractThe neurofibromatosis type I gene encodes a protein, neurofibromin, which may function as a tumor suppressor gene product. Recent studies have demonstrated loss of neurofibromin in tumors from NFI and non‐NFI patients, including neurofibrosar‐comas, neuroblastomas and malignant melanomas. Since neurofibromin is expressed in the adrenal gland, six pheochromocy‐tomas and one adrenal cortical tumor were examined for neurofibromin expression. In all seven tumors, no neurofibromin could be detected. Furthermore, loss of heterozygosity (LOH) analysis demonstrated that in one of the pheochromocytomas, reduction to homozygosity was observed for both 17p and 17q markers while the adrenal cortical tumor demonstrated LOH for only 17q markers. The frequent LOH surrounding the NFI locus and lack of neurofibromin expression in these tumors suggest that NFI gene mutations may contribute to the development of adrenal gland neoplasms in patients with NFI. Genes Chrom Cancer 10:55–58 (1994). © 1994 Wiley‐Liss, Inc.