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Al-Hussain Turki T Departments of *Pathology and Laboratory Medicine †Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi - - 2014
Wilms tumor (WT) is the most common neoplasm of the kidney in children. It is an embryologic tumor that histologically mimics renal embryogenesis and is composed of a variable mixture of stromal, blastemal, and epithelial elements. Nephrogenic rests, generally considered to be precursor lesions of the WT, are foci of ...
Valind Anders A Department of Clinical Genetics, Lund University, University and Regional Laboratories, Lund, - - 2014
Whether chromosome abnormalities observed in tumor cells may in some cases reflect low-grade somatic mosaicism for anomalies present already at zygote formation, rather than acquired somatic mutations, has for long remained a speculation. We here report a patient with Wilms tumor, where constitutional somatic mosaicism of trisomy 8 was detected ...
Cerrone Margherita M Pathology Unit, INT Pascale Foundation, I-80131 Naples, - - 2014
Approximately one third of soft tissue tumors are characterized by chromosomal aberrations, in particular, translocations and amplifications, which appear to be highly specific. The identification of fusion transcripts not only supports the diagnosis, but provides the basis for the development of novel therapeutic strategies aimed at blocking the aberrant activity ...
Venkitaraman Ashok R AR Medical Research Council Cancer Unit, University of Cambridge, Hills Road, Cambridge CB2 0XZ, - - 2014
Germline mutations in BRCA1 and BRCA2 predispose to common human malignancies, most notably tumors of the breast and ovaries. The proteins encoded by these genes have been implicated in a plethora of biochemical interactions and biological functions, confounding attempts to coherently explain how their inactivation promotes carcinogenesis. Here, I argue ...
Mizawa M M Department of Dermatology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, - - 2014
Ewing's sarcoma (ES) is a rare malignant round cell tumor that primarily affects the skeletal system and is commonly diagnosed in children and young adults. It was first described by Ewing in 1921.(1) ES tumors consist of small round cells, mostly expressing CD99, and are characterized by a specific chromosomal ...
de Oliveira Daniel D Urology Division, University of Sao Paulo Medical School, Sao Paulo, Brazil. Electronic address: - - 2014
Chromosome 9p deletions have been observed in 14% to 36% of patients with clear cell renal cell carcinoma (ccRCC) and are associated with advanced-stage tumors. We evaluated whether chromosome 9p deletions are an independent predictor of worse outcomes in patients with localized ccRCC. In this retrospective study, tumor samples from ...
Starr Lois J LJ Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, - - 2014
Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in ...
Kim Gina Y GY Genetics Branch, National Cancer Institute, Bethesda, - - 2014
Primary IGH translocations involving seven recurrent partner loci and oncogenes are present in about 40% of multiple myeloma tumors. Secondary IGH rearrangements, which occur in a smaller fraction of tumors, usually are complex structures, including insertions or translocations that can involve three chromosomes, and often with involvement of MYC. The ...
Ricketts Christopher J CJ Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, - - 2014
Clear cell renal cell carcinoma (CCRCC) is characterized by mutation of the VHL gene and loss of a segment of chromosome 3. A new study using multi-region exome sequencing has identified substantial intratumoral heterogeneity within large primary CCRCCs, which has profound implications for understanding tumor evolution and for developing effective ...
Orsetti Béatrice - - 2014
It remains presently unclear whether disease progression in colorectal carcinoma (CRC), from early, to invasive and metastatic forms, is associated to a gradual increase in genetic instability and to a scheme of sequentially occurring Copy Number Alterations (CNAs). In this work we set to determine the existence of such links ...
Ruland Vincent V Institute of Neuropathology, University Hospital Münster, Münster, - - 2014
Choroid plexus carcinoma is a malignant brain tumor predominantly occurring in young children. Only limited data are available regarding the underlying molecular genetic alterations. Therefore, molecular inversion probe single nucleotide polymorphism (MIP SNP) arrays were performed on a series of 26 neuropathologically well-characterized choroid plexus carcinomas. Recurrent copy number losses ...
Gessi Marco M Institute of Neuropathology, University of Bonn Medical Center, Bonn, Germany (M.G., A.z.M., T.P.); Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (A.O.v.B., S.R.); Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, University Medical Center Goettingen, Goettingen, Germany (A.O.v.B.); Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (A.T.); Department of Pathology, University of Cologne Medical Center, Cologne, Germany. (W.H.); Department of Neuroradiology, University of Würzburg, Würzburg, Germany - - 2014
BackgroundPrimitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are a rare group of neoplasms occurring in the CNS that includes supratentorial CNS-PNETs, medulloepitheliomas, and ependymoblastomas. While ependymoblastomas frequently carry chromosome 19q13.41 amplification and show aggressive clinical behavior, the biological mechanisms and molecular alterations contributing to the pathogenesis of supratentorial ...
Kwong Lawrence N LN Genomic Medicine, MD Anderson Cancer - - 2014
Although many DNA aberrations in melanoma have been well characterized, including focal amplification and deletions of oncogenes and tumor suppressors, broad regions of chromosomal gain and loss are less well understood. One possibility is that these broad events are a consequence of collateral damage from targeting single loci. Another possibility ...
Fernandez-Banet Julio J Pfizer Oncology, San Diego, CA, - - 2014
Elucidating the molecular basis of hepatocellular carcinoma (HCC) is crucial to developing targeted diagnostics and therapies for this deadly disease. The landscape of somatic genomic rearrangements (GRs), which can lead to oncogenic gene fusions, remains poorly characterized in HCC. We have predicted 4314 GRs including large-scale insertions, deletions, inversions and ...
Mekenkamp Leonie J M LJ Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The - - 2014
The metastatic process is complex and remains a major obstacle in the management of colorectal cancer. To gain a better insight into the pathology of metastasis, we investigated genomic aberrations in a large cohort of matched colorectal cancer primaries and distant metastases from various sites by high resolution array comparative ...
Egan Jan B JB Comprehensive Cancer Center, Mayo Clinic, Scottsdale, Arizona, United States of - - 2014
Liposarcoma is the most common soft tissue sarcoma, but little is known about the genomic basis of this disease. Given the low cell content of this tumor type, we utilized flow cytometry to isolate the diploid normal and aneuploid tumor populations from a well-differentiated liposarcoma prior to array comparative genomic ...
Klemke Markus M Center for Human Genetics, University of Bremen, Bremen, - - 2014
In pleomorphic adenomas of the salivary glands (PASG) recurrent chromosomal rearrangements affecting either 8q12 or 12q14∼15 lead to an overexpression of the genes of the genuine transcription factor PLAG1 or the architectural transcription factor HMGA2, respectively. Both genes are also affected by recurrent chromosomal rearrangements in benign adipocytic tumors as ...
Li Juan J 1. Center for Translational Medicine, The First Affiliated Hospital of Xian Jiaotong University College of - - 2014
WWOX, a gene that spans the second most common chromosomal fragile site (FRA16D), often exhibits homozygous deletions and translocation breakpoints under multiple cellular stresses induced by extrinsic or intrinsic factors, such as hypoxia, UV, and DNA damage regents. Loss of WWOX is closely related to genomic instability, tumorigenesis, cancer progression ...
Ke Zunfu Z Department of Pathology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R. - - 2014
The present study aimed to evaluate the diagnostic value of chromosomal analysis by fluorescence in situ hybridization (FISH) for bladder cancer in light of the histological diagnosis. Several valuable observations using FISH technologies in voided urine cells were also reported. The multi-target FISH-containing probes for the centromeres of chromosomes 3, ...
Li Lianjie L Department of Medical Oncology, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, - - 2013
Clear cell renal cell carcinoma (ccRCC) is the most common form of kidney cancer and is often linked to loss of chromosome 3p, which harbors the VHL tumor suppressor gene, loss of chromosome 14q, which includes HIF1A, and gain of chromosome 5q. The relevant target(s) on chromosome 5q is not ...
Palumbo O O Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, - - 2014
Patients with Silver-Russell syndrome (SRS) show an intrauterine and postnatal growth restriction associated with a variable spectrum of additional features. Genetic or epigenetic alterations on chromosomes 7 and 11 can be detected in several SRS patients; however, a large fraction of cases remains with unknown genetic etiology. Here, we describe ...
Mukherjee M - - 2013
Separase, a protease encoded by the ESPL1 gene, cleaves the chromosomal cohesin during mitosis. Separase protein and transcripts are overexpressed in a wide range of human cancers. To investigate the physiological consequence of Separase overexpression in animals, we have generated a transgenic MMTV-Espl1 mouse model that overexpresses Separase protein in ...
Byeon Sun-Ju SJ Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea, - - 2013
The clinicopathologic and molecular genetic features of 5 cases of rhabdoid glioblastoma, an extremely rare variant of glioblastoma that tends to affect patients at a young age, were investigated by immunohistochemical analysis and focused molecular genetic studies including array-based comparative genomic hybridization. All 5 cases had supratentorial tumors that immunohistochemical ...
Mol Berber M - - 2014
Both hereditary and nonhereditary retinoblastoma (Rb) are commonly initiated by loss of both copies of the retinoblastoma tumor suppressor gene (RB1), while additional genomic changes are required for tumor initiation and progression. Our aim was to determine whether there is genomic heterogeneity between different clinical Rb subtypes. Therefore, 21 Rb ...
Busam Klaus J KJ Department of Pathology, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, New York, New York 10065. Electronic address: - - 2013
Genetic and genomic analyses of melanocytic tumors have yielded new opportunities for improvements in diagnostic accuracy for the distinction of nevus from melanoma and better selection of patients affected by melanoma for targeted treatment. Since chromosomal copy number changes are commonly found in malignant melanoma, but rare in melanocytic nevi, ...
Hashemi Jamileh - - 2013
Small intestinal neuroendocrine tumors (SI-NETs) are typically slow-growing tumors that have metastasized already at the time of diagnosis. The purpose of the present study was to further refine and define regions of recurrent copy number (CN) alterations (CNA) in SI-NETs. Genome-wide CNAs was determined by applying array CGH (a-CGH) on ...
Schneider Gabriela - - 2013
Parental imprinting of differentially methylated regions (DMRs) contributes to appropriate expression of several developmentally important genes from paternally or maternally derived chromosomes. Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children and is associated with altered expression of certain parentally imprinted genes. As previously reported, RMS cells display loss ...
Silk Alain D AD Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California at San Diego, La Jolla, CA - - 2013
Aneuploidy, a chromosome content other than a multiple of the haploid number, is a common feature of cancer cells. Whole chromosomal aneuploidy accompanying ongoing chromosomal instability in mice resulting from reduced levels of the centromere-linked motor protein CENP-E has been reported to increase the incidence of spleen and lung tumors, ...
Sangle Nikhil A - - 2013
Tubulocystic renal cell carcinoma (TRCC) is an indolent type of renal cell carcinoma with a good prognosis based on the limited number of published cases. Herein, we describe the unusual clinical, pathologic and molecular findings in a case of TRCC. Our patient with TRCC had two local recurrences and a ...
Galvan A - - 2013
Selective breeding for the acute inflammatory response (AIR) generated two mouse lines characterized by maximum (AIRmax) and minimum (AIRmin) responses, explained by the additive effect of alleles differentially fixed in quantitative trait loci (QTLs). These mice also differ in their susceptibility to lung tumorigenesis, raising the possibility that the same ...
Nord Karolin H - - 2013
Gene amplification is a common phenomenon in malignant neoplasms of all types. One mechanism behind increased gene copy number is the formation of ring chromosomes. Such structures are mitotically unstable and during tumor progression they accumulate material from many different parts of the genome. Hence, their content varies considerably between ...
Mandelia Ankur - - 2013
To assess the utility of fine needle aspiration cytology (FNAC) samples for molecular genetic analysis of neuroblastoma. The case files from the pediatric solid tumor clinic were reviewed to identify 20 neuroblastoma patients whose pre-treatment FNAC slides were preserved in the cytology laboratory. The FNAC slides were destained, air dried ...
Gessi Marco - - 2013
Little is known about the molecular features of desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA). We performed a genome-wide DNA copy number analysis in combination with a multiplex ligation-dependent probe amplification-based analysis of copy number changes of candidate genes in 4 DIAs and 10 DIGs. Molecular inversion probe ...
Roger Laureline L Institute of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, - - 2013
Telomere shortening, dysfunction, and fusion may facilitate the acquisition of large-scale genomic rearrangements, driving clonal evolution and tumor progression. The relative contribution that telomere dysfunction and/or APC mutation play in the chromosome instability that occurs during colorectal tumorigenesis is not clear. We used high-resolution telomere length and fusion analysis to ...
Park Inai I Department of Biological Sciences and Institute of Molecular Biology and Genetics, Seoul National University, Seoul 151-742, - - 2013
BubR1 acetylation is essential in mitosis. Mice heterozygous for the acetylation-deficient BubR1 allele (K243R/+) spontaneously developed tumors with massive chromosome missegregations. K243R/+ mouse embryonic fibroblasts (MEFs) exhibited a weakened spindle assembly checkpoint (SAC) with shortened mitotic timing. The generation of the SAC signal was intact, as Mad2 localization to the ...
Feik Elisabeth - - 2013
Clinical management of prostate cancer (PC) is still highly demanding on the identification of robust biomarkers which will allow a more precise prediction of disease progression. We profiled both mRNA expression and DNA copy number alterations (CNAs) from laser capture microdissected cells from 31 PC patients and 17 patients with ...
Gerami Pedram - - 2013
Death due to melanoma in childhood (up to 20 y of age) is a rare event, with an average of 18 cases reported annually in the United States. In this study we evaluated 2 subgroups of high-risk melanocytic neoplasms in childhood, specifically atypical Spitz tumors (ASTs) with chromosomal copy number ...
Li Gang - - 2013
BACKGROUND: Gliomas are common tumors and high-grade ones account for 62% of primary malignant brain tumors. Though current evidence have suggested that inherited risks play a role in glioma susceptibility, it was conveyed that glioma was such a complex disease, and the direct genetic contribution to glioma risk factors and ...
Pan Chin-Chen - - 2013
Specialized stromal tumors of the prostate encompass stromal sarcoma and stromal tumors of uncertain malignant potential (STUMP). The molecular signature associated with stromal sarcoma and STUMP has not been unraveled. The study was conducted to detect the chromosomal imbalances in stromal sarcoma and STUMP by using array comparative genomic hybridization ...
Mehine Miika M Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, - - 2013
Uterine leiomyomas are benign but affect the health of millions of women. A better understanding of the molecular mechanisms involved may provide clues to the prevention and treatment of these lesions. We performed whole-genome sequencing and gene-expression profiling of 38 uterine leiomyomas and the corresponding myometrium from 30 women. Identical ...
Arantes-Rodrigues Regina - - 2013
Chemically-induced urinary bladder cancer in rodents has long been used as a reliable model to study the biopathology of urinary bladder neoplasia and to develop therapeutic strategies against human tumors. Knowledge of the genetic basis underlying carcinogenesis would greatly enhance usability and usefulness of this model for the purposes of ...
Klorin Geula - - 2013
High-resolution oligonucleotide array comparative genomic hybridization (aCGH) and spectral karyotyping (SKY) were applied to a panel of malignant mesothelioma (MMt) cell lines. SKY has not been applied to MMt before, and complete karyotypes are reported based on the integration of SKY and aCGH results. A whole genome search for homozygous ...
Zhang Li - - 2013
The molecular genetic alterations underlying the development and diversity of salivary gland carcinomas are largely unknown. To characterize these events, comparative genomic hybridization analysis was performed, using a single-nucleotide polymorphism microarray platform, of 60 fresh-frozen specimens that represent the main salivary carcinoma types: mucoepidermoid carcinoma (MEC), adenoid cystic carcinoma (ACC), ...
Arbajian Elsa - - 2013
The EWSR1 gene in chromosome band 22q12 is a promiscuous fusion partner involved in a vast array of tumors characterized by gene fusions. In this study, we report the finding of a new fusion gene, EWSR1-NFATC1, in a hemangioma of the bone; genetic rearrangements have not previously been described in ...
Braun Martin - - 2013
PURPOSE: Both genetic instability resulting in aneuploidy and increased proliferative activity are common features of tumor development and progression. Cytometric evaluation of tumor ploidy status was recently suggested as a prognostic marker. However, in prostate cancer (PCa), a chromosome-specific evaluation is lacking. With the present study, we sought to identify ...
Dassano Alice - - 2013
BACKGROUND: In an intercross between the SWR/J and BALB/c mouse strains, the pulmonary adenoma progression 1 (Papg1) locus on chromosome 4 modulates lung tumor size, one of several measures of lung tumor progression. This locus has not been fully characterized and defined in its extent and genetic content. Fine mapping ...
Koczkowska Magdalena - - 2013
Mesenteric leiomyosarcoma (LMS) is a very rare malignancy whose familiar occurrence has not yet been reported. We present two sisters who developed intestinal LMS. Pathological analysis of the tumor samples, including evaluation of smooth muscle actin+, desmin+, Myf4-, DOG-1-, S100-, CD34- and CD117- confirmed LMS diagnosis. Molecular analysis of the ...
Asirvatham Jaya Ruth - - 2013
Background: Though, loss of heterozygosity (LOH) at chromosome 22q is considered to be the most likely initiating event in the formation of meningiomas, LOH at other chromosomes (1, 3, 6, 9, 10, 11, 14.17, and 18) have been implicated in its progression. The aim of this study was to analyze ...
Costa-Guda Jessica - - 2013
Parathyroid cancer is a rare, clinically aggressive cause of primary hyperparathyroidism, and whether these malignancies generally evolve from pre-existing benign adenomas or arise de novo is unclear. Furthermore, while inactivation of the CDC73 (HRPT2) tumor suppressor gene, encoding parafibromin, is a major contributor, other genes essential to parathyroid carcinogenesis remain ...
Gmidène A - - 2013
8p21.3 deletion was recently characterized in B cell lymphoma suggesting that TRAIL-R1 and TRAIL-R2 may be the target of the deletion and act as dosage-dependent tumor suppressor genes. As multiple myeloma is a plasma cell malignancy originating from B-lineage clonogenic cells, the idea was why do not evaluate this deletion ...
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