Cancer Genetics and Cytogenetics最新文献

{"title":"Urine from current smokers induces centrosome aberrations and spindle defects in vitro in nonmalignant human cell lines","authors":"Ute Gabriel ,&nbsp;Michelle Giehl ,&nbsp;Wiltrud Haass ,&nbsp;Lutz Trojan ,&nbsp;Maurice Stephan Michel ,&nbsp;Wolf-Karsten Hofmann ,&nbsp;Wolfgang Seifarth ,&nbsp;Alice Fabarius","doi":"10.1016/j.cancergencyto.2010.07.135","DOIUrl":"10.1016/j.cancergencyto.2010.07.135","url":null,"abstract":"<div><p>Tobacco smoke containing numerous derived chemical carcinogens is the main risk factor for urothelial carcinoma. These carcinogens can induce DNA damage leading to chromosomal instability, which plays a fundamental role in urothelial carcinogenesis. Possible mechanisms could be centrosomal aberrations, which cause defective spindles and may be responsible for genetic instability. We evaluated the effect of urine from never smokers (NS) and current smokers (CS) in concentrations of 0 to 50% on cell proliferation, chromosomes, centrosomes, and the spindle status of normal human dermal fibroblasts and normal human urothelial cells (UROtsa). After 2 weeks of urine treatment, cell cultures were analyzed by centrosome and spindle immunostaining and conventional cytogenetics. Effects were compared to results of untreated controls. Analysis of normal human dermal fibroblasts and UROtsa cells revealed that urine from CS induced higher values of centrosome aberrations in a dose-dependent and cell line-independent manner when compared to cultures treated with urine from NS and untreated controls. Centrosomal alterations correlated with spindle defects and an increase of sporadic chromosomal aberrations. The observations suggest a causative role of chemical carcinogens in urine from CS in the origin of centrosome and spindle defects in vitro leading to chromosomal instability and may be involved in urothelial carcinogenesis.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 253-262"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.07.135","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29534049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myelodysplastic syndrome with isochromosome 5p and trisomy 8 after treatment of a multiple myeloma","authors":"Maria Angeles Jimenez-Sousa,&nbsp;Maria Teresa Ferro,&nbsp;Maria Talavera,&nbsp;Concepcion Villalon,&nbsp;Pablo Cabello,&nbsp;Jose Laraña,&nbsp;Pilar Herrera,&nbsp;Jose Miguel Garcia Sagredo","doi":"10.1016/j.cancergencyto.2010.09.010","DOIUrl":"10.1016/j.cancergencyto.2010.09.010","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 345-347"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.09.010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29534507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of acute myeloid leukemia initially treated as chronic lymphocytic leukemia: what do we know about t(4;12)(q12;p13)?","authors":"Aref Al-Kali,&nbsp;Mohamad Cherry,&nbsp;Kristopher Kimmell,&nbsp;Jennifer Holter,&nbsp;William Kern,&nbsp;Bradley Gehrs,&nbsp;Howard Ozer,&nbsp;George Selby","doi":"10.1016/j.cancergencyto.2010.09.004","DOIUrl":"10.1016/j.cancergencyto.2010.09.004","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 348-351"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.09.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29534508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Numerical chromosomal changes and risk of development of myelodysplastic syndrome–acute myeloid leukemia in patients with Fanconi anemia","authors":"Parinda A. Mehta ,&nbsp;Richard E. Harris ,&nbsp;Stella M. Davies ,&nbsp;Mi-Ok Kim ,&nbsp;Robin Mueller ,&nbsp;Beatrice Lampkin ,&nbsp;Jun Mo ,&nbsp;Kasiani Myers ,&nbsp;Teresa A. Smolarek","doi":"10.1016/j.cancergencyto.2010.07.127","DOIUrl":"10.1016/j.cancergencyto.2010.07.127","url":null,"abstract":"<div><p>Fanconi Anemia (FA) is an inherited bone marrow failure syndrome characterized by congenital abnormalities, progressive marrow failure and predisposition to myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and solid tumors. The most common acquired chromosomal aberrations in FA patients are trisomy of 1q and monosomy of chromosome 7; the latter is known to be associated with poor prognosis. A few reports also suggest that gains of 3q are associated with progression to MDS–AML and overall poor prognosis. It is not uncommon for patients with Fanconi anemia to have easily detectable (oligoclonal) chromosomal alterations in their still normal (nonmalignant) marrow, which makes it even more challenging to determine the import of such alterations. We conducted a retrospective longitudinal analysis of fluorescent in situ hybridization (FISH) analysis for gains in 1q and 3q and for monosomy 7 and 7q deletions on 212 bone marrow samples from 77 children with FA treated at our institution between 1987 and 2007. Given the baseline increased chromosomal instability and defective DNA repair in patients with FA, which leads to unbalanced chromosomal aberrations such as deletions, insertions, and translocations, for the purpose of this analysis an abnormal clone was defined as ≥10% abnormal cells. Chromosome 3 and 7 aberrations were associated with increased risk of developing MDS–AML (<em>P</em> = 0.019 and <em>P</em> &lt; 0.001 respectively), although the significance of chromosome 3 aberrations disappeared when different observation times were accounted for. Gain of 1q alone did not predict development of MDS–AML. In conclusion, children with FA should be followed closely with FISH analyses, because some of the clonal chromosomal abnormalities may be early indicators of progression toward MDS–AML and thus also of the need for hematopoietic stem cell transplantation.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 180-186"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.07.127","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29533572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Standardization of fluorescence in situ hybridization studies on chronic lymphocytic leukemia (CLL) blood and marrow cells by the CLL Research Consortium","authors":"Stephanie A. Smoley ,&nbsp;Daniel L. Van Dyke ,&nbsp;Neil E. Kay ,&nbsp;Nyla A. Heerema ,&nbsp;Marie L. Dell’ Aquila ,&nbsp;Paola Dal Cin ,&nbsp;Prasad Koduru ,&nbsp;Ayala Aviram ,&nbsp;Laura Rassenti ,&nbsp;John C. Byrd ,&nbsp;Kanti R. Rai ,&nbsp;Jennifer R. Brown ,&nbsp;Andrew W. Greaves ,&nbsp;Jeanette Eckel-Passow ,&nbsp;Donna Neuberg ,&nbsp;Thomas J. Kipps ,&nbsp;Gordon W. Dewald","doi":"10.1016/j.cancergencyto.2010.08.009","DOIUrl":"10.1016/j.cancergencyto.2010.08.009","url":null,"abstract":"<div><p>Five laboratories in the Chronic Lymphocytic Leukemia (CLL) Research Consortium (CRC) investigated standardizing and pooling of fluorescence in situ hybridization (FISH) results as a collaborative research project. This investigation used fixed bone marrow and blood cells available from previous conventional cytogenetic or FISH studies in two pilot studies, a one-day workshop, and proficiency test. Multiple FISH probe strategies were used to detect 6q-, 11q-, +12, 13q-, 17p-, and <em>IGH</em> rearrangements. Ten specimens were studied by participants who used their own probes (pilot study 1). Of 312 FISH interpretations, 224 (72%) were true-negative, 74 (24%) true-positive, 6 (2%) false-negative, and 8 (3%) false-positive. In pilot study no. 2, each participant studied two specimens using identical FISH probe sets to control for variation due to probe sets and probe strategies. Of 80 FISH interpretations, no false interpretations were identified. At a subsequent workshop, discussions produced agreement on scoring criteria. The proficiency test that followed produced no false-negative results and 4% (3/68) false-positive interpretations. Interpretation disagreements among laboratories were primarily attributable to inadequate normal cutoffs, inconsistent scoring criteria, and the use of different FISH probe strategies. Collaborative organizations that use pooled FISH results may wish to impose more conservative empiric normal cutoff values or use an equivocal range between the normal cutoff and the abnormal reference range to eliminate false-positive interpretations. False-negative results will still occur, and would be expected in low-percentage positive cases; these would likely have less clinical significance than false positive results. Individual laboratories can help by closely following rigorous quality assurance guidelines to ensure accurate and consistent FISH studies in their clinical practice and research.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 141-148"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.08.009","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29533667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Translocation (3;8)(q27;q24) in two cases of triple hit lymphoma","authors":"Cristina Motlló ,&nbsp;Javier Grau ,&nbsp;Jordi Juncà ,&nbsp;Neus Ruiz ,&nbsp;José-Luis Mate ,&nbsp;Elisa Orna ,&nbsp;José-Tomás Navarro ,&nbsp;Susana Vives ,&nbsp;Juan-Manuel Sancho ,&nbsp;Daniel Esteban ,&nbsp;Isabel Granada ,&nbsp;Evarist Feliu ,&nbsp;Josep-Maria Ribera ,&nbsp;Fuensanta Millá","doi":"10.1016/j.cancergencyto.2010.08.018","DOIUrl":"10.1016/j.cancergencyto.2010.08.018","url":null,"abstract":"<div><p>Unclassifiable lymphoma with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma is a new category of B-cell lymphoma appearing in the new World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues. This lymphoma usually shows <em>MYC</em> rearrangements with non-<em>IGH</em> genes in the setting of a complex karyotype possibly involving <em>BCL2</em> and, less frequently, <em>BCL6</em> rearrangements. According to the presence of two or three rearrangements, these lymphomas are called double-hit lymphomas or triple-hit lymphomas (THL), respectively. Here we report two cases of THL with <em>MYC</em>, <em>BCL2</em>, and <em>BCL6</em> rearrangements and t(3;8)(q27;q24) diagnosed in one center in the last two years.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 328-332"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.08.018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29534023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"B lymphoblastic leukemia with ETV6 amplification","authors":"Hyojin Chae ,&nbsp;Myungshin Kim ,&nbsp;Jihyang Lim ,&nbsp;Yonggoo Kim ,&nbsp;Kyungja Han ,&nbsp;Seok Lee","doi":"10.1016/j.cancergencyto.2010.08.004","DOIUrl":"10.1016/j.cancergencyto.2010.08.004","url":null,"abstract":"<div><p>We presente a case of acute lymphoblastic leukemia caused by <em>ETV6</em> amplification. Although the cytogenetic result revealed complex karyotype, multicolor fluorescence in situ hybridization and high-resolution multicolor banding supported amplification of a gene on 12p13. Fluorescence in situ hybridization with <em>ETV6</em> probe confirmed the amplification. <em>ETV6</em> generally plays as tumor-suppressor gene in leukemia. Their expression is decreased or missed by deletion or mutation. Otherwise, ETV6 protein overexpression was verified in this case by immunohistochemistry. Any translocation or mutation involving <em>ETV6</em> was not detected. This experience strongly supports the hypothesis that the amplification of <em>ETV6</em> is a possible mechanism of leukeogenesis as oncogene.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 284-287"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.08.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29534053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Magnetic characterization of Ba ( Fe 0.9 Co 0.1 ) 2 As 2","authors":"S. Gaudio, G. Marzi, A. A. Armenio, G. Celentano, L. Morici, A. D. Corte, U. Gambardella, Jianyi Jiang, E. Hellstrom, J. Weiss, D. Larbalestier","doi":"10.1016/J.PHYSC.2009.10.136","DOIUrl":"https://doi.org/10.1016/J.PHYSC.2009.10.136","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/J.PHYSC.2009.10.136","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"55345907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human synovial sarcoma: towards novel therapeutic strategies","authors":"Diederik R.H. de Bruijn ,&nbsp;Anke H.A. van Dijk ,&nbsp;Uta Flucke ,&nbsp;Ad Geurts van Kessel","doi":"10.1016/j.cancergencyto.2010.07.046","DOIUrl":"https://doi.org/10.1016/j.cancergencyto.2010.07.046","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 1","pages":"Page 65"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.07.046","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92006056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Large duplications at balanced chromosome translocation breakpoints which could be caused by stalled replication bubbles","authors":"Karen Howarth ,&nbsp;Juliet Beavis ,&nbsp;Scott Newman ,&nbsp;Elizabeth M. Batty ,&nbsp;Jessica C.M. Pole ,&nbsp;Paul A.W. Edwards","doi":"10.1016/j.cancergencyto.2010.07.024","DOIUrl":"https://doi.org/10.1016/j.cancergencyto.2010.07.024","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 1","pages":"Page 54"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.07.024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92006887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}