Copy number changes of clinically actionable genes in melanoma, non ‐small cell lung cancer and colorectal cancer—A survey across 822 routine diagnostic cases
In conclusion, we demonstrate that our approach i) facilitates detection of CNV, ii) enables detection of known CNV patterns, and iii) uncovers new CNV of clinically actionable genes in FFPE tissue samples across cancers. © 2016 Wiley Periodicals, Inc. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - June 26, 2016 Category: Cancer & Oncology Authors: Nicole Pfarr, Roland Penzel, Frederick Klauschen, Daniel Heim, Regine Brandt, Daniel Kazdal, Moritz Jesinghaus, Esther Herpel, Peter Schirmacher, Arne Warth, Wilko Weichert, Volker Endris, Albrecht Stenzinger Tags: Research Article Source Type: research

Secondary EWSR1 gene abnormalities in SMARCB1 ‐deficient tumors with 22q11‐12 regional deletions: Potential pitfalls in interpreting EWSR1 FISH results
SMARCB1 inactivation occurs in a variety of tumors, being caused by various genetic mechanisms. Since SMARCB1 and EWSR1 genes are located close to each other on chromosome 22, larger SMARCB1 deletions may encompass the EWSR1 locus. Herein, we report four cases with SMARCB1‐deletions showing concurrent EWSR1 gene abnormalities by FISH, which lead initially to misinterpretations as EWSR1‐rearranged tumors. Our study group included various morphologies: a poorly differentiated chordoma, an extrarenal rhabdoid tumor, a myoepithelial carcinoma, and a proximal‐type epithelioid sarcoma. All cases showed loss of SMARCB1 (INI...
Source: Genes, Chromosomes and Cancer - June 23, 2016 Category: Cancer & Oncology Authors: Shih ‐Chiang Huang, Lei Zhang, Yun‐Shao Sung, Chun‐Liang Chen, Yu‐Chien Kao, Narasimhan P. Agaram, Cristina R. Antonescu Tags: Research Article Source Type: research

Epigenetic regulation of SMARCB1 By miR ‐206, ‐381 and ‐671‐5p is evident in a variety of SMARCB1 immunonegative soft tissue sarcomas, while miR‐765 appears specific for epithelioid sarcoma. A miRNA study of 223 soft tissue sarcomas
Complete/partial loss of SMARCB1 nuclear‐immunopositivity is characteristic of a certain subset of soft tissue sarcomas (STSs). Our previous work showed that oncomiRs‐206,‐381, and 671‐5p could silence the SMARCB1 mRNA and protein expression and that they display significant overexpression in epithelioid sarcomas (ESs). MiR‐765 was overexpressed too, but functionally was inactive in the silencing. In the current work, using quantitative PCR, we conducted a miRNA study of 51 ESs, 20 rhabdoid tumors (RTs), 20 synovial sarcomas (SSs), 15 malignant peripheral nerve sheath tumors (MPNSTs), 11 myoepithelial carcinomas ...
Source: Genes, Chromosomes and Cancer - June 23, 2016 Category: Cancer & Oncology Authors: Zolt án Sápi, Gergő Papp, Miklós Szendrői, Zsuzsanna Pápai, Vanda Plótár, Thomas Krausz, Christopher D.M. Fletcher Tags: Research Article Source Type: research

Translocation t(11;14) in newly diagnosed patients with multiple myeloma: Is it always favorable?
The most common translocation in multiple myeloma (MM) is t(11;14)(q13;q32). According to several studies, this translocation represents a unique subset of patients with relatively favorable outcomes. Using combined analyses of morphology and fluorescence in situ hybridization (I‐FISH), we examined the co‐occurrence rates of t(11;14) with seven chromosomal aberrations (CAs), del(13q), del(17p), del(1p), gain(1q), multiple gains(1q), del(16q), and del(IGH), and assessed the effect of the different combinations on patient outcomes, with overall survival (OS) as the main outcome measure. Bone marrow samples and clinical d...
Source: Genes, Chromosomes and Cancer - June 23, 2016 Category: Cancer & Oncology Authors: Merav Leiba, Adrian Duek, Ninette Amariglio, Abraham Avigdor, Noam Benyamini, Izhar Hardan, Itay Zilbershats, Chezi Ganzel, Olga Shevetz, Ilya Novikov, Yossi Cohen, Galina Ishoev, Gabriela Rozic, Arnon Nagler, Luba Trakhtenbrot Tags: Research Article Source Type: research

Trisomy 8 in pediatric acute myeloid leukemia: A NOPHO ‐AML study
In conclusion, +8 is one of the most common cytogenetic aberrations in pediatric AML. Trisomy 8 positive AML is a heterogeneous group and the majority of cases have additional cytogenetic aberrations. Patients with +8 alone differed from patients with +8 other and were associated with older age, FAB M2, and FLT3‐ITD aberrations. There were no differences in survival despite the more frequent occurrence of FLT3‐ITD in +8 alone. © 2016 Wiley Periodicals, Inc. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - June 22, 2016 Category: Cancer & Oncology Authors: Anne Cathrine Lund Laursen, Julie Damgaard Sandahl, Eigil Kjeldsen, Jonas Abrahamsson, Peter Asdahl, Shau ‐Yin Ha, Jesper Heldrup, Kirsi Jahnukainen, Ólafur G. Jónsson, Birgitte Lausen, Josefine Palle, Bernward Zeller, Erik Forestier, Henrik Hasle Tags: Research Article Source Type: research

Trisomy 8 in pediatric acute myeloid leukemia: A NOPHO‐AML study
In conclusion, +8 is one of the most common cytogenetic aberrations in pediatric AML. Trisomy 8 positive AML is a heterogeneous group and the majority of cases have additional cytogenetic aberrations. Patients with +8 alone differed from patients with +8 other and were associated with older age, FAB M2, and FLT3‐ITD aberrations. There were no differences in survival despite the more frequent occurrence of FLT3‐ITD in +8 alone. © 2016 Wiley Periodicals, Inc. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - June 22, 2016 Category: Cancer & Oncology Authors: Anne Cathrine Lund Laursen, Julie Damgaard Sandahl, Eigil Kjeldsen, Jonas Abrahamsson, Peter Asdahl, Shau‐Yin Ha, Jesper Heldrup, Kirsi Jahnukainen, Ólafur G. Jónsson, Birgitte Lausen, Josefine Palle, Bernward Zeller, Erik Forestier, Henrik Hasle Tags: Research Article Source Type: research

Germline Mutations in DNA Repair Genes May Predict Neoadjuvant Therapy Response in Triple Negative Breast Patients
This article is protected by copyright. All rights reserved. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - June 21, 2016 Category: Cancer & Oncology Authors: Laura Spugnesi, Michele Gabriele, Rosa Scarpitta, Mariella Tancredi, Luisa Maresca, Gaetana Gambino, Anita Collavoli, Paolo Aretini, Ilaria Bertolini, Barbara Salvadori, Elisabetta Landucci, Andrea Fontana, Elena Rossetti, Manuela Roncella, Giuseppe Anton Tags: Research Article Source Type: research

VOLIN and KJON – Two Novel Hyperdiploid Myeloma Cell Lines
This article is protected by copyright. All rights reserved. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - June 16, 2016 Category: Cancer & Oncology Authors: Thea Kristin Våtsveen, Magne Børset, Aida Dikic, Erming Tian, Francesca Micci, Ana H. B. Lid, Leonardo A. Meza‐Zepeda, Eivind Coward, Anders Waage, Anders Sundan, W. Michael Kuehl, Toril Holien Tags: Research Article Source Type: research

Molecular Bases of Aberrant miR‐182 Expression in Ovarian Cancer
This article is protected by copyright. All rights reserved. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - June 14, 2016 Category: Cancer & Oncology Authors: Barbara Marzec‐Kotarska, Marek Cybulski, Józef Czesław Kotarski, Anna Ronowicz, Rafał Tarkowski, Grzegorz Polak, Halina Antosz, Arkadiusz Piotrowski, Jan Kotarski Tags: Research Article Source Type: research

Analysis of Alternative Lengthening of Telomere Markers in BRCA1 Defective Cells
This article is protected by copyright. All rights reserved. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - June 12, 2016 Category: Cancer & Oncology Authors: Parisa K. Kargaran, Hemad Yasaei, Sara Anjomani‐Virmouni, Giovanna Mangiapane, Predrag Slijepcevic Tags: Research Article Source Type: research

Table of Content Volume 55, Number 8, August 2016
(Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - June 10, 2016 Category: Cancer & Oncology Tags: Issue Information ‐ TOC Source Type: research

Genomic Profiling and Directed Ex Vivo Drug Analysis of an Unclassifiable Myelodysplastic/Myeloproliferative Neoplasm Progressing into Acute Myeloid Leukemia
This article is protected by copyright. All rights reserved. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - May 31, 2016 Category: Cancer & Oncology Authors: Axel Hyrenius‐Wittsten, Helena Sturesson, Mahtab Bidgoli, Tord Jonson, Mats Ehinger, Henrik Lilljebjörn, Stefan Scheding, Anna K Andersson Tags: Research Article Source Type: research

Prevalence of Germline Mutations in the Spindle Assembly Checkpoint Gene BUB1B in Individuals with Early‐Onset Colorectal Cancer
This article is protected by copyright. All rights reserved. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - May 30, 2016 Category: Cancer & Oncology Authors: Marc‐Manuel Hahn, Lilian Vreede, Sonja A.S.A Bemelmans, Erica van der Looij, Ad Geurts van Kessel, Hans K. Schackert, Marjolijn J.L. Ligtenberg, Nicoline Hoogerbrugge, Roland P. Kuiper, Richarda M. de Voer Tags: Research Article Source Type: research

Pan‐cancer analysis of copy number changes in programmed death‐ligand 1 (PD‐L1, CD274) – associations with gene expression, mutational load, and survival
In conclusion, PD‐L1 CNAs, in particular PD‐L1 copy number gains, represent frequent genetic alterations across many cancers, which influence PD‐L1 expression levels, are associated with higher mutational loads, and may be exploitable as predictive biomarker for immunotherapy regimens. © 2016 Wiley Periodicals, Inc. (Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - May 29, 2016 Category: Cancer & Oncology Authors: Jan Budczies, Michael Bockmayr, Carsten Denkert, Frederick Klauschen, Stefan Gröschel, Silvia Darb‐Esfahani, Nicole Pfarr, Jonas Leichsenring, Maristela L. Onozato, Jochen K. Lennerz, Manfred Dietel, Stefan Fröhling, Peter Schirmacher, A. John Iafrate Tags: Research Article Source Type: research

Expanding the Spectrum of ALK‐Rearranged Renal Cell Carcinomas in Children: Identification of a Novel HOOK1‐ALK Fusion Transcript
(Source: Genes, Chromosomes and Cancer)
Source: Genes, Chromosomes and Cancer - May 26, 2016 Category: Cancer & Oncology Authors: Mariana M. Cajaiba, Lawrence J. Jennings, David George, Elizabeth J. Perlman Tags: Letter to the Editors Source Type: research