Cancer Genetics and Cytogenetics最新文献

{"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, Mohamad Cherry, Kristopher Kimmell, Jennifer Holter, William Kern, Bradley Gehrs, Howard Ozer, 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":"Gene dosage effects in chronic lymphocytic leukemia","authors":"Ludger Sellmann ,&nbsp;Rene Scholtysik ,&nbsp;Markus Kreuz ,&nbsp;Sandra Cyrull ,&nbsp;Enrico Tiacci ,&nbsp;Jens Stanelle ,&nbsp;Alexander Carpinteiro ,&nbsp;Holger Nückel ,&nbsp;Tanja Boes ,&nbsp;Stefan Gesk ,&nbsp;Reiner Siebert ,&nbsp;Ludger Klein-Hitpass ,&nbsp;Ulrich Dührsen ,&nbsp;Jan Dürig ,&nbsp;Ralf Küppers","doi":"10.1016/j.cancergencyto.2010.09.002","DOIUrl":"10.1016/j.cancergencyto.2010.09.002","url":null,"abstract":"<div><p>To understand the influence of chromosomal alterations on gene expression in a genome-wide view, chromosomal imbalances detected by single nucleotide polymorphism (SNP) chips were compared with global gene expression in 16 cases of chronic lymphocytic leukemia (CLL). A strong concordance between chromosomal gain or loss and increased or reduced expression of genes in the affected regions was found, respectively. Regions of uniparental disomy (UPD) were rare and had usually no consistent influence on gene expression, but in one instance, a large UPD was associated with a downregulation of most genes in the affected chromosome. The frequently deleted miRNAs, <em>MIRN15A</em> and <em>MIRN16-1</em>, did not show a reduced expression in cases with monoallelic deletions. The BCL2 protein, considered to be downregulated by these miRNAs, was upregulated not only in CLL with biallelic deletion of <em>MIRN15A</em> and <em>MIRN16-1,</em> but also in cases with monoallelic deletion. This suggests a complex regulation of BCL2 levels in CLL cells. Taken together, in CLL, a global gene dosage effect exists for chromosomal gains and deletions and in some instances for UPDs. We did not confirm a consistent correlation between <em>MIRN15A</em> and <em>MIRN16-1</em> expression levels and BCL2 protein levels, indicating a complex regulation of BCL2 expression.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 149-160"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.09.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29533668","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":"EGFR expression and gene copy number in triple-negative breast carcinoma","authors":"Berrak Gumuskaya ,&nbsp;Murat Alper ,&nbsp;Sema Hucumenoglu ,&nbsp;Kadri Altundag ,&nbsp;Aysegul Uner ,&nbsp;Gulnur Guler","doi":"10.1016/j.cancergencyto.2010.07.118","DOIUrl":"10.1016/j.cancergencyto.2010.07.118","url":null,"abstract":"<div><p>Most basal-like breast carcinomas are estrogen receptor negative, progesterone receptor negative, and cerb-B2/HER-2/neu negative—the so-called triple-negative breast carcinomas—with high epidermal growth factor receptor (EGFR) expression, which makes EGFR a target of treatment. We evaluated EGFR expression by immunohistochemistry (IHC) with two different clones (EGFR.31G7 and EGFR.25) and gene copy number by fluorescence in situ hybridization (FISH) with Locus specific identifier EGFR/CEP 7 dual probe in 62 triple-negative breast carcinomas. Any complete or incomplete membranous and/or cytoplasmic expression was regarded as IHC positive. Cases showing gene amplification (a ratio of <em>EGFR</em> gene to chromosome 7 of ≥2 or 15 copies per cell in ≥10% of cells) and high polysomy (≥4 copies in ≥40% of cells) were considered FISH positive. We detected EGFR.31G7 positivity in 38 of 62 cases (61.4%), which was composed of 12 of 62 (19.4%) cytoplasmic, 14 of 62 (22.6%) incomplete membranous, and 12 of 62 (19.4%) complete membranous staining. Among 38 of 49 (77.6%) EGFR.25-positive cases, 7 of 49 (14.3%) exhibited cytoplasmic, 10 of 49 (20.4%) exhibited incomplete membranous, and 21 of 49 (42.9%) exhibited complete membranous staining pattern. Ten of 62 (16.1%) FISH-positive cases were identified; 1 of 62 (1.6%) showed amplification, and the rest showed high polysomy. All FISH-positive cases were also found to be IHC positive (<em>P</em> = 0.01) by both EGFR clones. The amplified case displayed strong complete membranous staining with both clones. Among the high polysomic cases; 4 of 9 (44.4%) incomplete membranous, 4 of 9 (44.4%) complete membranous and 1 of 9 (11.1%) cytoplasmic expression of EGFR.31G7, and 6 of 8 (75%) complete membranous and 2 of 6 (25%) cytoplasmic expression of EGFR.25 were detected. Here, we report that membranous EGFR expression is associated with increased gene copy number (<em>P</em> = 0.035 for EGFR.31G7 and <em>P</em> = 0.026 for EGFR.25 clone). Because the markers to predict anti-EGFR treatment response in other system tumors such as EGFR mutation and amplification seem to be rare events in breast cancer, membranous staining pattern of EGFR might be the best way to decide the patient eligibility for anti-EGFR therapy.</p></div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 2","pages":"Pages 222-229"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.07.118","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29533578","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":"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":"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":"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":"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":"Characterization of genetic changes in oligodendroglial tumors including glioblastomas with oligodendroglial component","authors":"Evelin Schrock ,&nbsp;Karl Hackmann ,&nbsp;Dietmar Krex ,&nbsp;Eva-Maria Gerlach","doi":"10.1016/j.cancergencyto.2010.07.054","DOIUrl":"https://doi.org/10.1016/j.cancergencyto.2010.07.054","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 1","pages":"Page 68"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.07.054","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92128100","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":"CCND1 overexpression and cisplatin resistance in testicular germ cell tumors and other human cancers","authors":"Yong-Jie Lu ,&nbsp;Elodie E. Noel ,&nbsp;Marc Yeste-Velasco ,&nbsp;Xueying Mao ,&nbsp;Jackie Perry ,&nbsp;Sakunthala C. Kudahetti ,&nbsp;Ningfeng F. Li ,&nbsp;Tracy Chaplin ,&nbsp;R. Tim D. Oliver ,&nbsp;Janet Shipley ,&nbsp;Daniel M. Berney ,&nbsp;Simon P. Joel ,&nbsp;Bryan D. Young","doi":"10.1016/j.cancergencyto.2010.07.055","DOIUrl":"https://doi.org/10.1016/j.cancergencyto.2010.07.055","url":null,"abstract":"","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 1","pages":"Page 69"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.07.055","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92113960","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}