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Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition
Publication date: Available online 29 December 2017 Source:Cancer Genetics Author(s): Carla B. Ripamonti, Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Maria Luisa Carcangiu, Paolo Radice Carcinosarcomas (CSs) are biphasic neoplasms composed of high grade, malignant, epithelial and mesenchymal elements. The incidence of gynecological CSs (GCSs) is 0.4/100,000 women per year. Patients affected with GCSs have been occasionally reported in Hereditary Breast Ovarian Cancer (HBOC) families, including a few cases with pathogenic variants in BRCA1/BRCA2 genes. The prevalence and the association of GCSs in HBOC families...
Source: Cancer Genetics - December 29, 2017 Category: Cancer & Oncology Source Type: research

Familial esophageal squamous cell carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes
Publication date: Available online 23 December 2017 Source:Cancer Genetics Author(s): Narjes Khalilipour, Ancha Baranova, Amir Jebelli, Alireza Heravi-Moussavi, Sergey Bruskin, Mohammad Reza Abbaszadegan In Iran, esophageal cancer is the fourth common cancers in women and sixth common cancers in men. Here we evaluated the importance of familial risk factors and the role of genetic predisposition in esophagheal squamouse cell Carcinoma (ESCC) using Whole-Exome Sequencing (WES). Germline damaging mutations were identified in WES data from 9 probands of 9 unrelated ESCC pedigrees. Mutations were confirmed with Sanger sequenc...
Source: Cancer Genetics - December 24, 2017 Category: Cancer & Oncology Source Type: research

Molecular approaches identify a cryptic MECOM rearrangement in a child with a rapidly progressive myeloid neoplasm
Publication date: Available online 19 December 2017 Source:Cancer Genetics Author(s): Roberto R. Capela de Matos, Moneeb A.K. Othman, Gerson M. Ferreira, Elaine S. Costa, Joana. B. Melo, Isabel. M. Carreira, Mariana T. de Souza, Bruno A. Lopes, Mariana Emerenciano, Marcelo G.P. Land, Thomas Liehr, Raul C. Ribeiro, Maria Luiza M. Silva Myeloid neoplasms are a heterogeneous group of hematologic disorders with divergent patterns of cell differentiation and proliferation, as well as divergent clinical courses. Rare recurrent genetic abnormalities related to this group of cancers are associated with poor outcomes. One such abn...
Source: Cancer Genetics - December 19, 2017 Category: Cancer & Oncology Source Type: research

Reply to Foley et  al., “Acute myeloid leukemia with t(14;21) involving RUNX1 and SYNE2: A novel favorable-risk translocation?”
Publication date: Available online 20 November 2017 Source:Cancer Genetics Author(s): Marc Sorigue, Jordi Juncà (Source: Cancer Genetics)
Source: Cancer Genetics - December 16, 2017 Category: Cancer & Oncology Source Type: research

Discussion on reply to Foley et  al., ‘Acute myeloid leukemia with t(14;21) involving RUNX1 and SYNE2: A novel favorable-risk translocation?’
Publication date: Available online 27 November 2017 Source:Cancer Genetics Author(s): Gabriel N. Mannis (Source: Cancer Genetics)
Source: Cancer Genetics - December 16, 2017 Category: Cancer & Oncology Source Type: research

SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq)
Publication date: Available online 2 December 2017 Source:Cancer Genetics Author(s): Sarah H. Johnson, James B. Smadbeck, Stephanie A. Smoley, Athanasios Gaitatzes, Stephen J. Murphy, Faye R. Harris, Travis M. Drucker, Roman M. Zenka, Beth A. Pitel, Ross A. Rowsey, Nicole L. Hoppman, Umut Aypar, William R. Sukov, Robert B. Jenkins, Andrew L. Feldman, Hutton M. Kearney, George Vasmatzis Mate-pair sequencing (MPseq), using long-insert, paired-end genomic libraries, is a powerful next-generation sequencing-based approach for the detection of genomic structural variants. SVAtools is a set of algorithms to detect both chromoso...
Source: Cancer Genetics - December 16, 2017 Category: Cancer & Oncology Source Type: research

Characterization of novel, large duplications in the MSH2 gene of three unrelated lynch syndrome patients.
In this study, we report a novel, large rearrangement of the MSH2 gene, manifested by a duplication spanning a 14,846-bps region from intron 7 through intron 9. The breakpoints of this rearrangement were characterized by sequencing. Further analysis of the breakpoints revealed that this rearrangement was a product of Alu-mediated recombination. Finally, this large duplication was identified in three unrelated patients. Breakpoint analysis revealed the same junction fragments of introns 7 and 8 in the three index cases, suggesting a recurrent duplication or, alternatively, identity of the respective alleles by descent. (Sou...
Source: Cancer Genetics - December 16, 2017 Category: Cancer & Oncology Source Type: research

ALK-TPM3 rearrangement in adult renal cell carcinoma: report of a new case showing loss of chromosome 3 and literature review
We report a new case of ALK-tRCC in a 55-year-old woman. Genomic profile showed losses of chromosomes 3, 9 and 14, anomalies often observed in clear cell RCC. VHL mutation or morphological features suggesting a clear cell RCC were not detected. We identified an unbalanced rearrangement of ALK and TPM3. Review of the literature identified similar features in our case and previously published cases: heterogeneous solid architecture, eosinophilic cells, mucinous cytoplasmic elements, rhabdoid cells and intracytoplasmic lumina. These elements may constitute the basis of a pathological definition of ALK-tRCC. Their observation ...
Source: Cancer Genetics - December 16, 2017 Category: Cancer & Oncology Source Type: research

A leukemic double-hit follicular lymphoma associated with a complex variant translocation, t(8;14;18)(q24;q32;q21), involving BCL2, MYC, and IGH
Publication date: January 2018 Source:Cancer Genetics, Volume 220 Author(s): Daisuke Minakata, Kazuya Sato, Takashi Ikeda, Yumiko Toda, Shoko Ito, Kiyomi Mashima, Kento Umino, Hirofumi Nakano, Ryoko Yamasaki, Kaoru Morita, Yasufumi Kawasaki, Miyuki Sugimoto, Chihiro Yamamoto, Masahiro Ashizawa, Kaoru Hatano, Iekuni Oh, Shin-ichiro Fujiwara, Ken Ohmine, Hirotoshi Kawata, Kazuo Muroi, Ikuo Miura, Yoshinobu Kanda Double-hit lymphoma (DHL) is defined as lymphoma with concurrent BCL2 and MYC translocations. While the most common histological subtype of DHL is diffuse large B-cell lymphoma, the present patient had leukemic foll...
Source: Cancer Genetics - December 16, 2017 Category: Cancer & Oncology Source Type: research

Assessment of a FBXW8 frameshift mutation, c.1312_1313delGT, in breast cancer patients and controls from Central Europe
Publication date: January 2018 Source:Cancer Genetics, Volume 220 Author(s): Jing Wang, Natalia Bogdanova, Peter Schürmann, Tjoung-Won Park-Simon, Robert Geffers, Thilo Dörk F-box proteins participate in multiple cellular processes through ubiquitylation and subsequent degradation of target proteins, such as cyclin D1 as target of FBXW8. To investigate the spectrum of FBXW8 germ-line mutations in patients with breast cancer and healthy controls, we analyzed the whole FBXW8 coding region and flanking untranslated portions in germ-line DNA samples of 91 breast cancer patients and 277 healthy controls using next-ge...
Source: Cancer Genetics - December 16, 2017 Category: Cancer & Oncology Source Type: research

Circulating long non-coding RNA MALAT1 expression as molecular biomarker in Egyptian patients with breast cancer
In conclusion, MALAT1 expression level was positively correlated with lymph node status, estrogen receptor (ER), tumor stage and histological grade indicating its possible prognostic value. MALAT1 expression can be used as an accurate marker for diagnosis of breast cancer, in addition it possesses a prognostic value of such disease. (Source: Cancer Genetics)
Source: Cancer Genetics - December 16, 2017 Category: Cancer & Oncology Source Type: research

Genetic analysis and clinical description of Greek patients with Peutz-Jeghers syndrome: Creation of a National Registry
Publication date: January 2018 Source:Cancer Genetics, Volume 220 Author(s): Florentia Fostira, Vasiliki Mollaki, George Lypas, George Alexandrakis, Efstratios Christianakis, Maria Tzouvala, Eirini Zacharopoulou, Despoina Kalfakakou, Irene Konstantopoulou, Drakoulis Yannoukakos Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder caused by germline mutations in the STK11 tumor suppressor gene. PJS patients face a cumulative cancer risk as high as 93% for all sites combined. The present study reports the spectrum of STK11 mutations in eight families with clinical diagnosis of PJS, summarizes the clinical char...
Source: Cancer Genetics - December 16, 2017 Category: Cancer & Oncology Source Type: research

Decoding colorectal cancer epigenomics
Publication date: Available online 15 November 2017 Source:Cancer Genetics Author(s): Khalid El Bairi, Kanwal Tariq, Imane Himri, Abdeslam Jaafari, Wiam Smaili, Abdul Hafeez Kandhro, Adel Gouri, Bouchra Ghazi Colorectal cancer (CRC) is very heterogeneous and presents different types of epigenetic alterations including DNA methylation, histone modifications and microRNAs. These changes are considered as characteristics of various observed clinical phenotypes. Undoubtedly, the discovery of epigenetic pathways with novel epigenetic-related mechanisms constitutes a promising advance in cancer biomarker discovery. In this revi...
Source: Cancer Genetics - November 16, 2017 Category: Cancer & Oncology Source Type: research

B-cell acute lymphoblastic leukemia with +der(1)t(1;19) (p13;p13.1) arising in the setting of CALR exon 9 mutated essential thrombocythemia
Publication date: Available online 19 October 2017 Source:Cancer Genetics Author(s): Talal Hilal, Christopher R. Conley (Source: Cancer Genetics)
Source: Cancer Genetics - October 26, 2017 Category: Cancer & Oncology Source Type: research

Comprehensive BRCA mutation analysis in the greek population. Experience from a single clinical diagnostic center
Publication date: Available online 19 October 2017 Source:Cancer Genetics Author(s): Angela Apessos, Konstantinos Agiannitopoulos, Georgia Pepe, Georgios N. Tsaousis, Eirini Papadopoulou, Vasiliki Metaxa-Mariatou, Angeliki Tsirigoti, Chrysoula Efstathiadou, Christos Markopoulos, Grigorios Xepapadakis, Vasileios Venizelos, Aris Tsiftsoglou, Ioannis Natsiopoulos, George Nasioulas Germline mutations in the BRCA1 and BRCA2 genes are associated with hereditary predisposition to breast and ovarian cancer. Sensitive and accurate detection of BRCA1 and BRCA2 mutations is crucial for personalized clinical management of individuals...
Source: Cancer Genetics - October 26, 2017 Category: Cancer & Oncology Source Type: research

Myeloid neoplasm with eosinophilia associated with isolated extramedullary FIP1L1/PDGFRA rearrangement
Publication date: Available online 23 October 2017 Source:Cancer Genetics Author(s): Talal Hilal, Veena Fauble, Rhett P. Ketterling, Katalin Kelemen Myeloid neoplasms with eosinophilia associated with PDGFRA rearrangement are very responsive to tyrosine kinase inhibitors (TKIs). Herein, we report a case of a 53-year-old man with eosinophilia and a well-differentiated extramedullary myeloid tumor with evidence of FIP1L1/PDGFRA rearrangement by fluorescent in situ hybridization in the extramedullary tissue. His bone marrow evaluation revealed a hypercellular marrow with eosinophilia but without evidence of a FIP1L1/PDGFRA r...
Source: Cancer Genetics - October 26, 2017 Category: Cancer & Oncology Source Type: research

APRIL gene expression in a cohort of egyptian acute myeloid leukemia patients: clinical and prognostic significance
Conclusion Our study has shown that APRIL is overexpressed in AML patients, its level might serve as an indicator for disease progression. APRIL might be an indicator for poor prognosis and treatment resistance in AML patient; therefore, APRIL antagonists may represent a novel therapeutic approach for the treatment of AML. (Source: Cancer Genetics)
Source: Cancer Genetics - October 26, 2017 Category: Cancer & Oncology Source Type: research

Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories
Publication date: Available online 25 September 2017 Source:Cancer Genetics Author(s): Eric T. Rosenthal, Ryan Bernhisel, Krystal Brown, John Kidd, Susan Manley Genetic testing for inherited cancer risk is now widely used to target individuals for screening and prevention. However, there is limited evidence available to evaluate the clinical utility of various testing strategies, such as single-syndrome, single-cancer, or pan-cancer gene panels. Here we report on the outcomes of testing with a 25-gene pan-cancer panel in a consecutive series of 252,223 individuals between September 2013 and July 2016. The majority of indi...
Source: Cancer Genetics - September 25, 2017 Category: Cancer & Oncology Source Type: research

Correlations between microsatellite instability, ERCC1/XRCC1 polymorphism and clinical characteristics, and FOLFOX adjuvant chemotherapy effect of colorectal cancer patients
In this study, MSI status was determined in tumors and paired normal tissues from 101 colorectal cancer (CRC) patients. We also examined SNP of ERCC1 (c. C354T) and XRCC1 (c.G1196A) in 83 and 85 patients' blood. MSI was found to be significantly correlated with well/moderate histopathological differentiation (p=0.038) and CRC family history (p=0.003). CEA and CA19-9 levels was positive correlated significantly by Spearman correlation analysis (Pearson's r=0.823, p<0.0001). No significant correlation was found between MSI status and ERCC1/XRCC1 polymorphisms. We found greater drop of CEA level in mFOLFOX6 sensitive g...
Source: Cancer Genetics - September 22, 2017 Category: Cancer & Oncology Source Type: research

High amplification levels of MDM2 and CDK4 correlate with poor outcome in patients with dedifferentiated liposarcoma: a cytogenomic microarray analysis of 47 cases.
Publication date: Available online 22 September 2017 Source:Cancer Genetics Author(s): Robert W. Ricciotti, Aaron J. Baraff, George Jour, McKenna Kyriss, Yu Wu, Yuhua Liu, Shao-Chun Li, Benjamin Hoch, Yajuan J. Liu Dedifferentiated liposarcoma (DDLS) is characterized at the molecular level by amplification of genes within 12q13-15 including MDM2 and CDK4. However, other than FNCLCC grade, prognostic markers are limited. We aim to identify molecular prognostic markers for DDLS to help risk stratify patients. To this end, we studied 49 cases of DDLS in our institutional archives and performed cytogenomic microarray analysis...
Source: Cancer Genetics - September 22, 2017 Category: Cancer & Oncology Source Type: research

Circulating cell-free DNA mutation patterns in early and late stage colon and pancreatic cancer
Publication date: Available online 14 September 2017 Source:Cancer Genetics Author(s): Eveline E. Vietsch, Garrett T. Graham, Justine N. McCutcheon, Aamir Javaid, Giuseppe Giaccone, John L. Marshall, Anton Wellstein Cancer is a heterogeneous disease harboring diverse subclonal populations that can be discriminated by their DNA mutations. Environmental pressure selects subclones that ultimately drive disease progression and tumor relapse. Circulating cell-free DNA (ccfDNA) can be used to approximate the mutational makeup of cancer lesions and can serve as a marker for monitoring disease progression at the molecular level w...
Source: Cancer Genetics - September 15, 2017 Category: Cancer & Oncology Source Type: research

Next-generation sequencing and molecular cytogenetic characterization of ETV6-LYN fusion due to chromosomes 1, 8 and 12 rearrangement in acute myeloid leukemia
Publication date: Available online 13 September 2017 Source:Cancer Genetics Author(s): Edmond S.K. Ma, Thomas S.K. Wan, Chun Hang Au, Dona N. Ho, Shing Yan Ma, Margaret H.L. Ng, Tsun Leung Chan In a newly diagnosed patient with acute myeloid leukemia (AML), complex cytogenetics and negative for gene mutations associated with myeloid neoplasms, RNA sequencing by next-generations sequencing (NGS) through a large cancer-related gene panel showed ETV6-LYN leukemic fusion transcript. Breakpoint analysis of the NGS reads showed fusion of exon 5 of the ETV6 gene to exon 8 of the LYN gene. Metaphase fluorescence in-situ hybridiza...
Source: Cancer Genetics - September 14, 2017 Category: Cancer & Oncology Source Type: research

Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network
In conclusion, many participants were identified with mutations in clinically-actionable genes. Age of onset and family history of gastric cancer were mutation status predictors. Our findings support multigene panels in identifying gastric cancer predisposition. (Source: Cancer Genetics)
Source: Cancer Genetics - September 14, 2017 Category: Cancer & Oncology Source Type: research

Differences between chronic lymphocytic leukaemia and small lymphocytic lymphoma cells by proteomic profiling and SNP microarray analysis.
Publication date: Available online 12 September 2017 Source:Cancer Genetics Author(s): Jennifer A. Tooze, Eita Hamzic, Fenella Willis, Ruth Pettengell The majority of malignant cells in chronic lymphocytic leukaemia (CLL) circulate in the peripheral blood whereas small lymphocytic lymphoma (SLL) cells reside in tissues. We identified by flow cytometric studies of chemokine receptors and DNA single nucleotide polymorphism (SNP) microarray analysis significant differences between cells from CLL and SLL patients. Proteomic analysis revealed two potential markers (m/z 3091 and 8707) to distinguish the two disorders. There was...
Source: Cancer Genetics - September 13, 2017 Category: Cancer & Oncology Source Type: research

Detection of complex genomic signatures associated with risk in plasma cell disorders
In this study, 58 patients were chosen for screening by comparative genomic hybridisation microarray (aCGH) to identify the new high-risk prognostic markers of chromothripsis and chromoanasynthesis. All patients had an unequivocal clinical diagnosis of a plasma cell disorder (plasma cell myeloma (PCM)(n=51) or monoclonal gammopathy of undetermined significance (MGUS)(n=7)) and an abnormal FISH result. There were a total of 17 complex genomic events identified across 9 patient samples, which were selected for further investigation by high definition single nucleotide polymorphism (HD-SNP) microarray. Each event was analysed...
Source: Cancer Genetics - September 2, 2017 Category: Cancer & Oncology Source Type: research

Is intrachromosomal amplification of chromosome 21 (iAMP21) always intrachromosomal?
We present a case of iAMP21 that does not fit the formal FISH definition. However, CMA uncovered the characteristic chromosome 21 copy number profile that is seen in iAMP21, demonstrating that CMA is helpful for the detection of this entity when FISH results are ambiguous. Furthermore, CMA showed that the highest level of amplification in this case did not include the RUNX1 gene, consistent with current evidence that RUNX1 is not the primary target of amplification. (Source: Cancer Genetics)
Source: Cancer Genetics - September 1, 2017 Category: Cancer & Oncology Source Type: research

Clinical utility of emerging liquid biomarkers in advanced prostate cancer
Publication date: Available online 25 August 2017 Source:Cancer Genetics Author(s): Gillian Vandekerkhove, Kim N Chi, Alexander W Wyatt The therapeutic landscape of advanced prostate cancer (PCa) has rapidly expanded in recent years. Despite significant improvements in patient overall survival, it remains challenging to determine the optimal therapy and sequence of therapies for individual patients. The development of molecular biomarkers will be key for patient stratification, and for monitoring response and resistance to therapy. In this context, minimally-invasive blood-based ‘liquid’ biopsies are attractiv...
Source: Cancer Genetics - August 26, 2017 Category: Cancer & Oncology Source Type: research

Identification of pathogenic retrotransposon insertions in cancer predisposition genes
Publication date: Available online 24 August 2017 Source:Cancer Genetics Author(s): Yaping Qian, Debora Mancini-DiNardo, Thaddeus Judkins, Hannah C. Cox, Krystal Brown, Maria Elias, Nanda Singh, Courtney Daniels, Jayson Holladay, Bradford Coffee, Karla R. Bowles, Benjamin B. Roa Cancer risks have been previously reported for some retrotransposon element (RE) insertions; however, detection of these insertions is technically challenging and very few oncogenic RE insertions have been reported. Here we evaluate RE insertions identified during hereditary cancer genetic testing using a comprehensive testing strategy. Individual...
Source: Cancer Genetics - August 24, 2017 Category: Cancer & Oncology Source Type: research

A novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH
We report a novel somatic mutation in the kinase domain of JAK2 (R938Q) in a high-risk pediatric case of B-cell acute lymphoblastic leukemia (ALL). The patient developed on-therapy relapse at 12 months, and interestingly, the JAK2 locus acquired loss of heterozygosity during treatment resulting in 100% mutation load. Furthermore, we show that primary ALL mononuclear cells harboring the JAK2 R938Q mutation display reduced sensitivity to the JAK1/2 ATP-competitive inhibitor ruxolitinib in vitro, compared to ALL cells that carry a more common JAK2 pseudokinase domain mutation. Our findings are in line with previous reports th...
Source: Cancer Genetics - August 19, 2017 Category: Cancer & Oncology Source Type: research

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma
We describe an 18-month-old boy with ultra-rare, bilateral disseminated CPC and negative family history of cancer. Next generation sequencing (NGS) revealed constitutional mosaicism of de novo TP53 mutation, which was barely detectable by Sanger sequencing. This is the first description of a de novo TP53 mutation mosaicism in a patient with CPC. Up to now four cases of de novo TP53 mutations in CPC patients have been described but none of them were mosaic. Since TP53 mutation mosaicism may have an impact on management of patients and predisposition to other cancers, a reliable method of identification is important. Our res...
Source: Cancer Genetics - August 18, 2017 Category: Cancer & Oncology Source Type: research

Addition of chromosomal microarray and next generation sequencing to FISH and classical cytogenetics enhances genomic profiling of myeloid malignancies
Publication date: Available online 14 August 2017 Source:Cancer Genetics Author(s): S Mukherjee, M Sathanoori, Z Ma, M Andreatta, PA Lennon, SR Wheeler, JL Prescott, C Coldren, T Casey, H Rietz, K Fasig, R Woodford, T Hartley, D Spence, W Donnelan, J Berdeja, I Flinn, N Kozyr, M Bouzyk, M Correll, H Ho, V Kravtsov, D Tunnel, P Chandra Comprehensive genetic profiling is increasingly important for the clinical workup of hematologic tumors, as specific alterations are now linked to diagnostic characterization, prognostic stratification and therapy selection. To maximally characterize relevant genetic and genomic alterations ...
Source: Cancer Genetics - August 17, 2017 Category: Cancer & Oncology Source Type: research

Prognostic classification of MDS is improved by the inclusion of FISH panel testing with conventional cytogenetics.
Publication date: Available online 16 August 2017 Source:Cancer Genetics Author(s): Prajakta Kokate, Rupa Dalvi, Neeraja Koppaka, Swarna Mandava Cytogenetics is a critical independent prognostic factor in myelodysplastic syndromes (MDS). Conventional cytogenetics (CC) and Fluorescence in situ hybridization (FISH) Panel Testing are extensively used for the prognostic stratification of MDS, although the FISH test is not yet a bona fide component of the International Prognostic Scoring System (IPSS). The present study compares the utility of CC and FISH to detect chromosomal anomalies and in prognostic categorization. GTG-Ba...
Source: Cancer Genetics - August 17, 2017 Category: Cancer & Oncology Source Type: research

Genetic gastric cancer susceptibility in the international clinical cancer genomics cancer research network
In conclusion, many participants were identified with mutations in clinically-actionable genes. Age of onset and family history of gastric cancer were mutation status predictors. Our findings support multigene panels in identifying gastric cancer predisposition. (Source: Cancer Genetics)
Source: Cancer Genetics - August 17, 2017 Category: Cancer & Oncology Source Type: research

Acute myeloid leukemia with t(14;21) involving RUNX1 and SYNE2: A novel favorable-risk translocation?
In this report, we describe the case of a 67-year-old gentleman who presented with AML harboring t(14;21)(q23;q22). Subsequent molecular analysis revealed mutations in RUNX1, ASXL1, and SF3B1, with translocation breakpoints identified within SYNE2 on chromosome 14 and RUNX1 on chromosome 21. The functional consequence of the DNA fusion between SYNE2 and RUNX1 is unclear. Nonetheless, despite several adverse risk factors associated with this patient's AML, he achieved a long-lasting remission with standard chemotherapy alone, potentially suggestive of a novel favorable-risk translocation in AML involving 21q22. (Source: Cancer Genetics)
Source: Cancer Genetics - August 17, 2017 Category: Cancer & Oncology Source Type: research

Upregulation of vascular endothelial growth factor (VEGF), its role in progression and prognosis of non-small cell lung carcinoma
Publication date: October 2017 Source:Cancer Genetics, Volumes 216–217 Author(s): Niyaz A. Naikoo, Roohi Rasool, Sonaullah Shah, A.G. Ahangar, Mushtaq A. Siddiqi, Zafar A. Shah Elevated VEGF mRNA (−ΔCT) was significantly associated with adenocarcinoma histology (vs squamous) and advanced NSCLC clinical stages in a univariable analysis; however, this association did not remain significant in the multivariable analysis. Of interest, a Kaplan–Meier analysis showed that NSCLC patients with higher VEGF mRNA (−ΔCT ≥10) had a significantly poorer overall survival and shorter postoper...
Source: Cancer Genetics - August 17, 2017 Category: Cancer & Oncology Source Type: research

Regulatory mechanisms of long noncoding RNAs on gene expression in cancers
Publication date: Available online 9 August 2017 Source:Cancer Genetics Author(s): Weiliang Sun, Yunben Yang, Chunjing Xu, Junming Guo Long non-coding RNAs (lncRNAs) are a heterogeneous class of RNAs that are non-protein coding transcripts longer than 200 nucleotides. In this review, we introduce the mechanisms by which lncRNAs regulate gene expression in four parts, epigenetic regulation (genetic imprinting and chromatin remodeling), transcriptional regulation (molecular decoy), post-transcriptional regulation (splicing and mRNA decay), and translational regulation. H19, Xist, and others are involved in genomic imprintin...
Source: Cancer Genetics - August 10, 2017 Category: Cancer & Oncology Source Type: research

A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion
Publication date: Available online 9 August 2017 Source:Cancer Genetics Author(s): Melanie Lacaria, Dina El Demellawy, Jean McGowan-Jordan Lipoma is a benign tumor, typically of adulthood, with characteristic cytogenetic findings, including rearrangement of 12q13-15; these rearrangements often lead to the fusion of the HMGA2 gene at this locus to the transcriptional regulatory domain of its fusion partner, resulting in neomorphic activity that presumably facilitates the neoplastic process. Herein, we report a rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion in a 9 year-old boy. Th...
Source: Cancer Genetics - August 10, 2017 Category: Cancer & Oncology Source Type: research

RANK and EGFR in invasive breast carcinoma
Publication date: October 2017 Source:Cancer Genetics, Volumes 216–217 Author(s): Anastasios D. Papanastasiou, Chaido Sirinian, Eva Plakoula, Vassiliki Zolota, Ioannis K. Zarkadis, Haralabos P. Kalofonos Breast cancer is the most common malignancy, affecting one in eight women in North America and Europe. The human epidermal growth factor receptor (EGFR) protein comprises a major determinant of normal development but also cancer. RANK receptor (Receptor Activator of Nuclear factor-κB) is a tumor necrosis superfamily member and a binding partner for RANKL, which was recently implicated in breast cancer initiati...
Source: Cancer Genetics - August 9, 2017 Category: Cancer & Oncology Source Type: research

First cloned human immortalized adipose derived mesenchymal stem-cell line with chimeric SS18-SSX1 gene (SS-iASC)
Publication date: October 2017 Source:Cancer Genetics, Volumes 216–217 Author(s): Dóra Mihály, Zsolt Matula, Yi-Che Changchien, Gergő Papp, Péter Tátrai, Zoltán Sápi The SS18-SSX chimeric gene is unique to synovial sarcoma. Multiple model systems including mouse cell lines expressing SS18-SSX, and genetically engineered mouse models of synovial sarcoma have been developed to elucidate the role of the chimeric gene in synovial sarcomagenesis. Although several cell lines stably expressing human SS18-SSX exist, there is an ongoing need for cell culture models enabling research...
Source: Cancer Genetics - August 9, 2017 Category: Cancer & Oncology Source Type: research

Potential circulating miRNA signature for early detection of NSCLC
Publication date: Available online 7 August 2017 Source:Cancer Genetics Author(s): Ayda Arab, Morteza Karimipoor, Shiva Irani, Arda Kiani, Sirous Zeinali, Elham Tafsiri, Kambiz Sheikhy Circulating microRNAs (c-miRNAs) are promising biomarkers for screening, early detection and prognosis of cancer. The purpose of this investigation was to identify a panel of c-miRNAs in plasma that could contribute to early detection of non-small cell lung cancer (NSCLC). We profiled the expression of 44 unique plasma miRNAs in training set of 34 NSCLC patients and 20 matched healthy individuals by miRCURY LNA™ Universal RT microRNA ...
Source: Cancer Genetics - August 8, 2017 Category: Cancer & Oncology Source Type: research

Trisomy 12 assessment by conventional fluorescence in-situ hybridization (FISH), FISH in suspension (FISH-is) and laser scanning cytometry (LSC) in chronic lymphocytic leukemia.
Publication date: Available online 4 August 2017 Source:Cancer Genetics Author(s): Cuc H. Do, Karen M. Lower, Cindy Macardle, Bryone J. Kuss Chronic lymphocytic leukemia (CLL) has an extremely heterogeneous clinical course, and prognostication is based on common genetic abnormalities which are detected by standard cytogenetic methods. However, current methods are restricted by the low number of cells able to be analyzed, resulting in the potential to miss clinically relevant sub-clonal populations of cells. A novel high throughput methodology called fluorescence in situ hybridization in suspension (FISH-IS) incorporates a...
Source: Cancer Genetics - August 5, 2017 Category: Cancer & Oncology Source Type: research

A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia
We describe identification of a FIP1L1-PDGFRA fusion in a 13-year-old boy who presented with T-lymphoblastic leukemia/lymphoma without eosinophilia. Detection of FIP1L1- PDGFRA driven neoplasms at diagnosis is usually critical for proper treatment, since almost all reported cases responded to tyrosine kinase inhibitors. However, our patient's leukemia was refractory to standard chemotherapy, and did not show a meaningful response to tyrosine kinase inhibitor therapy. Testing for a FIP1L1- PDGFRA rearrangement is at present limited to patients with idiopathic hypereosinophilia, and we hypothesize that this abnormality may b...
Source: Cancer Genetics - August 4, 2017 Category: Cancer & Oncology Source Type: research

Gene expression profiling, pathway analysis and subtype classification reveal molecular heterogeneity in hepatocellular carcinoma and suggest subtype specific therapeutic targets
Publication date: October 2017 Source:Cancer Genetics, Volumes 216–217 Author(s): Rahul Agarwal, Jitendra Narayan, Amitava Bhattacharyya, Mayank Saraswat, Anil Kumar Tomar A very low 5-year survival rate among hepatocellular carcinoma (HCC) patients is mainly due to lack of early stage diagnosis, distant metastasis and high risk of postoperative recurrence. Hence ascertaining novel biomarkers for early diagnosis and patient specific therapeutics is crucial and urgent. Here, we have performed a comprehensive analysis of the expression data of 423 HCC patients (373 tumors and 50 controls) downloaded from The Cancer Ge...
Source: Cancer Genetics - July 27, 2017 Category: Cancer & Oncology Source Type: research

Prognostic significance of recurrent additional chromosomal abnormalities in adult patients with Philadelphia chromosome-positive acute lymphoblastic leukemia
Publication date: October 2017 Source:Cancer Genetics, Volumes 216–217 Author(s): Chang Ahn Seol, Young-Uk Cho, Seongsoo Jang, Chan-Jeoung Park, Jung-Hee Lee, Je-Hwan Lee, Kyoo Hyung Lee, Eul-Ju Seo In Philadelphia (Ph) chromosome-positive acute lymphoblastic leukemia (ALL), additional chromosomal abnormalities (ACAs) are frequently observed. We investigated the cytogenetic characteristics and prognostic significance of ACAs in Ph-positive ALL. We reviewed the clinical data and bone marrow cytogenetic findings of 122 adult Ph-positive ALL patients. The ACAs were examined for partial or whole chromosomal gains or los...
Source: Cancer Genetics - July 16, 2017 Category: Cancer & Oncology Source Type: research

Significantly mutated genes and regulatory pathways in SCLC —a meta-analysis
Publication date: October 2017 Source:Cancer Genetics, Volumes 216–217 Author(s): Varsha Sundaresan, Victor T. Lin, Faming Liang, Frederic J. Kaye, Reika Kawabata-Iwakawa, Kouya Shiraishi, Takashi Kohno, Jun Yokota, Lei Zhou Small cell lung cancer (SCLC) accounts for approximately 15% of all lung cancers and demands effective targeted therapeutic strategies. In this meta-analysis study, we aim to identify significantly mutated genes and regulatory pathways to help us better understand the progression of SCLC and to identify potential biomarkers. Besides ranking genes based on their mutation frequencies, we sought to...
Source: Cancer Genetics - July 7, 2017 Category: Cancer & Oncology Source Type: research

41 Rare Occurrence of Dual MPL Exon 10 Mutations in a Patient With Thrombocytosis
Publication date: August 2017 Source:Cancer Genetics, Volumes 214–215 Author(s): Durga Prasad Dash, Amir Behdad, Claudia Tellez (Source: Cancer Genetics)
Source: Cancer Genetics - June 7, 2017 Category: Cancer & Oncology Source Type: research

40 Apparent Lack of Segregation of a Pathogenic Nonsense PALB2 Variant in a Family With a Strong History of Cancer
Publication date: August 2017 Source:Cancer Genetics, Volumes 214–215 Author(s): Julie M. Carstens, Gwen Reiser, Marilu Nelson, Janet E. Williamson, Emily J. Rief, Evan M. Roberts, Karissa M. Scott, Dani L. Bishay, Bhavana J. Dave, Jennifer N. Sanmann (Source: Cancer Genetics)
Source: Cancer Genetics - June 7, 2017 Category: Cancer & Oncology Source Type: research

39 Evaluation of Integrating HD-SNP Microarray Into the Workflow for CLL and MM: Challenges and Culture Changes
Publication date: August 2017 Source:Cancer Genetics, Volumes 214–215 Author(s): Nadine Berry, Amanda Dixon-McIver, Rodney Scott, Andrew Ziolkowski, Anoop Enjeti (Source: Cancer Genetics)
Source: Cancer Genetics - June 7, 2017 Category: Cancer & Oncology Source Type: research

38 Utilization of a SNP Microarray for the Study of Multiple Myeloma Patients: Novel Findings and Better Stratification of Patients
Publication date: August 2017 Source:Cancer Genetics, Volumes 214–215 Author(s): Savanna Schepis, Peter Papenhausen, Stuart Schwartz (Source: Cancer Genetics)
Source: Cancer Genetics - June 7, 2017 Category: Cancer & Oncology Source Type: research

37 Utilization of a SNP Microarray for Chronic Lymphocytic Leukemia: Efficacy, Informative Findings and Prognostic Capabilities
Publication date: August 2017 Source:Cancer Genetics, Volumes 214–215 Author(s): Stuart Schwartz, Savanna Schepis, Zhinous Hosseini, Peter Papenhausen (Source: Cancer Genetics)
Source: Cancer Genetics - June 7, 2017 Category: Cancer & Oncology Source Type: research