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Carlos Córdova-Fletes, Horacio Rivera, Eduardo A Garza-Villarreal, Norma A Vázquéz-Cárdenas, Lizeth A Martínez-Jacobo, Talia Moreno-Andrade
No abstract text is available yet for this article.
October 12, 2016: Clinical Dysmorphology
Zhongping Cheng, Weihong Yang, Jing Guo, Ning Luo, Li Chen, Yan Xie, Xiaoyan Qu, Liping Hu, Hong Dai, Xiaoming Zuo
The present report aimed to study genetic alterations underlying extraovarian peritoneal serous papillary carcinoma (EPSPC), which have not previously been systematically investigated. A case of EPSPC was identified, and its genetic alterations were assessed by combining comparative genomic hybridization and whole-exome sequencing technologies to investigate the genomic landscape, including copy number variations and mutations in EPSPC. It was found that a large number of germline mutations were present, which may have predisposed the patient to the occurrence of this disease...
October 2016: Oncology Letters
J R Sawyer, E Tian, J D Shaughnessy, J Epstein, C M Swanson, C Stangeby, C L Hale, L Parr, M Lynn, G Sammartino, J L Lukacs, C Stein, C Bailey, M Zangari, F E Davies, F Van Rhee, B Barlogie, G J Morgan
Hyperhaploid clones (24-34 chromosomes) were identified in 33 patients with multiple myeloma (MM), identifying a novel numerical cytogenetic subgroup. Strikingly, all hyperhaploid karyotypes were found to harbor monosomy 17p, the single most important risk stratification lesion in MM. A catastrophic loss of nearly a haploid set of chromosomes results in disomies of chromosomes 3,5,7,9,11,15,18,19, and 21, the same basic set of odd-numbered chromosomes found in trisomy in hyperdiploid myeloma. All other autosomes are found in monosomy, resulting in additional clinically relevant monosomies of 1p, 6q, 13q, and 16q...
October 3, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Fabian Bock, Gary Lu, Samer Srour, Sameh Gaballa, Heather Y Lin, Veerabhadran Baladandayuthapani, Medhavi Honhar, Maximilian Stich, Nina Das Shah, Qaiser Bashir, Krina Patel, Uday Popat, Chitra Hosing, Martin Korbling, Ruby Delgado, Gabriela Rondon, Jatin J Shah, Sheeba K Thomas, Elisabet E Manasanch, Berend Isermann, Robert Z Orlowski, Richard E Champlin, Muzaffar H Qazilbash
The gain/amplification of the CKS1B gene on chromosome 1q21 region is associated with a poor outcome in patients with multiple myeloma (MM). However, there are limited data on the outcome of patients with CKS1B amplification after a single high-dose chemotherapy and autologous hematopoietic stem cell transplantation (auto-HCT). We retrospectively evaluated the outcome of patients with CKS1B amplification who received an auto-HCT between June 2012 and July 2014 at our institution. We identified 58 patients with MM and CKS1B gene amplification detected by fluorescent in situ hybridization (FISH)...
September 13, 2016: Biology of Blood and Marrow Transplantation
D T Truong, L D Shriberg, S D Smith, K L Chapman, A R Scheer-Cohen, M M C DeMille, A K Adams, A Q Nato, E M Wijsman, J D Eicher, J R Gruen
Verbal trait disorders encompass a wide range of conditions and are marked by deficits in five domains that impair a person's ability to communicate: speech, language, reading, spelling, and writing. Nonword repetition is a robust endophenotype for verbal trait disorders that is sensitive to cognitive processes critical to verbal development, including auditory processing, phonological working memory, and motor planning and programming. In the present study, we present a six-generation extended pedigree with a history of verbal trait disorders...
December 2016: Human Genetics
Soo Ki Kim, Yoshihide Ueda, Etsuro Hatano, Nobuyuki Kakiuchi, Haruhiko Takeda, Tomoyuki Goto, Takahiro Shimizu, Kenichi Yoshida, Yoshihiro Ikura, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Shinji Uemoto, Tsutomu Chiba, Seishi Ogawa, Hiroyuki Marusawa
The number of patients with nonalcoholic fatty liver disease (NAFLD)-related hepatocellular carcinoma (HCC) is increasing. To understand the molecular features of the tumor phenotype, we aimed to clarify the overall landscape of genetic aberrations accumulated in NAFLD-related HCC. Of 247 HCC patients who underwent hepatectomy during 2010 to 2014 at a single center in Japan, 10 were diagnosed with NAFLD-HCC based on strict clinical and pathologic criteria. We analyzed the genetic aberrations of 11 NAFLD-HCC tumor samples from these 10 patients by whole-exome sequencing, targeted sequencing of the selected genes, and copy number variation studies...
December 1, 2016: International Journal of Cancer. Journal International du Cancer
Deepak Sharma, Basudev Gupta, Sweta Shastri, Pradeep Sharma
INTRODUCTION: von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities. CASE PRESENTATION: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder...
2016: International Medical Case Reports Journal
Vandana Sandhu, David C Wedge, Inger Marie Bowitz Lothe, Knut Jørgen Labori, Stefan C Dentro, Trond Buanes, Martina L Skrede, Astrid M Dalsgaard, Else Munthe, Ola Myklebost, Ole Christian Lingjærde, Anne-Lise Børresen-Dale, Tone Ikdahl, Peter Van Loo, Silje Nord, Elin H Kure
Despite advances in diagnostics, less than 5% of patients with periampullary tumors experience an overall survival of five years or more. Periampullary tumors are neoplasms that arise in the vicinity of the ampulla of Vater, an enlargement of liver and pancreas ducts where they join and enter the small intestine. In this study, we analyzed copy number aberrations using Affymetrix SNP 6.0 arrays in 60 periampullary adenocarcinomas from Oslo University Hospital to identify genome-wide copy number aberrations, putative driver genes, deregulated pathways, and potential prognostic markers...
September 1, 2016: Cancer Research
Mohammad Miryounesi, Mehdi Diantpour, Elahe Motevaseli, Soudeh Ghafouri-Fard
BACKGROUND: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes. In addition, there is an increased risk for imprinting disorders in their offspring. Although it has been estimated that 1/1000 healthy persons carry a Robertsonian translocation, homozygosity for this type of structural chromosomal abnormality has been reported rarely...
July 2016: Journal of Reproduction & Infertility
Shuhua Yi, Zengjun Li, Dehui Zou, Gang An, Rui Cui, Shizhen Zhong, Heng Li, Wenjie Xiong, Chenwen Li, Weiwei Chen, Wei Liu, Rui Lv, Zhen Yu, Huijun Wang, Yan Xu, Keshu Zhou, Kun Ru, Jianxiang Wang, Tao Cheng, Lugui Qiu
PURPOSE: Chronic lymphocytic leukemia (CLL) is a heterogeneous disease with cytogenetic aberrations that are still considered the gold standard of prognostic factors. However, heterogeneity remains within each cytogenetic group, especially in patients with concomitant cytogenetic aberrations. METHODS: A panel of DNA probes was used to detect cytogenetic aberrations, including RB1/D13S25 at 13q14, ATM at 11q22, TP53 at 17p13, CEP12 and IGH translocation at 14q32, by fluorescence in situ hybridization...
July 28, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Rachel C Brennan, Ibrahim Qaddoumi, Catherine A Billups, Tracy Kaluzny, Wayne L Furman, Matthew W Wilson
BACKGROUND: A total of 5-10% of patients with retinoblastoma (RB) harbor deletion of the long arm (q) chromosome 13 (13q-). The treatment-related toxicities in this population have not been described. METHODS: Sixty-eight RB patients on a single institutional protocol (RET5) from 2005 to 2010 were reviewed. Genetic screening identified 11 patients (seven female) with 13q-. Patients with early (Reese-Ellsworth [R-E] group I-III) disease (6/23 with 13q-) received eight courses of vincristine/carboplatin (VC)...
November 2016: Pediatric Blood & Cancer
Shuhua Li, Hyeon-Ho Lim, Kwang-Sook Woo, Sung-Hyun Kim, Jin-Yeong Han
BACKGROUND: The accurate identification of cytogenetic abnormalities in multiple myeloma (MM) has become more important over recent years for the development of new diagnostic and prognostic markers. In this study, we retrospectively analyzed the cytogenetic aberrations in MM cases as an initial assessment in a single institute. METHODS: We reviewed the cytogenetic results from 222 patients who were newly diagnosed with MM between January 2000 and December 2015...
June 2016: Blood Research
Bin Xu, Ronald Ghossein
Poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma (ATC) are aggressive thyroid tumors associated with a high mortality rate of 38-57 % and almost 100 % respectively. Several recent studies utilizing next generation sequencing techniques have shed lights on the molecular pathogenesis of these tumors, providing evidence to support a stepwise tumoral progression from well-differentiated to poorly differentiated, and finally to anaplastic thyroid carcinomas. While BRAF (V600E) and RAS mutations remain the main drivers in aggressive thyroid carcinoma, PDTC and ATC gains additional mutations, e...
September 2016: Endocrine Pathology
Tae Jun Kil, Hyun Sil Kim, Hyung Jun Kim, Woong Nam, In-Ho Cha
BACKGROUND: The cancer progression of oral leukoplakia is an important watchpoint in the follow-up observation of the patients. However, potential malignancies of oral leukoplakia cannot be estimated by histopathologic assessment alone. We evaluated genetic abnormalities at the level of copy number variation (CNV) to investigate the risk for developing cancer in oral leukoplakias. MATERIALS AND METHODS: The current study used 27 oral leukoplakias with histological evidence of dysplasia...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
Tzu-Po Chuang, Jaw-Yuan Wang, Shu-Wen Jao, Chang-Chieh Wu, Jiann-Hwa Chen, Koung-Hung Hsiao, Chung-Yen Lin, Shu-Hwa Chen, Sheng-Yao Su, Ying-Ju Chen, Yuan-Tsong Chen, Deng-Chyang Wu, Ling-Hui Li
Development of colorectal cancer (CRC) involves sequential transformation of normal mucosal tissues into benign adenomas and then adenomas into malignant tumors. The identification of genes crucial for malignant transformation in colorectal adenomas (CRAs) has been based primarily on cross-sectional observations. In this study, we identified relevant genes using autologous samples. By performing genome-wide SNP genotyping and RNA sequencing analysis of adenocarcinomas, adenomatous polyps, and non-neoplastic colon tissues (referred as tri-part samples) from individual patients, we identified 68 genes with differential copy number alterations and progressively dysregulated expression...
June 13, 2016: Oncotarget
Pellegrino Musto, Massimo Negrini, Luciana De Luca, Antonio Cuneo
No abstract text is available yet for this article.
August 2016: Leukemia Research
John B Vincent
For a period in the mid-1990s, soon after the discovery of the involvement of trinucleotide repeat expansions in fragile-X syndrome (both A and E), Huntington's disease, myotonic dystrophy, and a number of hereditary ataxias, there was a clear sense that this new disease mechanism might provide answers for psychiatric disorders. Given the then failures to replicate initial genetic linkage findings for schizophrenia (SCZ) and bipolar disorder (BD), a greater emphasis was placed on the role of complex and non-Mendelian mechanisms, and repeat instability appeared to have the potential to provide adequate explanations for numerous apparently non-Mendelian features such as anticipation, incomplete penetrance, sporadic occurrence, and nonconcordance of monozygotic twins...
August 2016: Psychiatric Genetics
Jen-Chieh Lee, Tzu-Pin Lu, Chun A Changou, Cher-Wei Liang, Hsien-Neng Huang, Alexandra Lauria, Hsuan-Ying Huang, Chin-Yao Lin, Ying-Cheng Chiang, Ben Davidson, Ming-Chieh Lin, Kuan-Ting Kuo
Müllerian adenosarcomas are malignant gynecologic neoplasms. Advanced staging and sarcomatous overgrowth predict poor prognosis. Because the genomic landscape remains poorly understood, we conducted this study to characterize the genomewide copy number variations in adenosarcomas. Sixteen tumors, including eight with and eight without sarcomatous overgrowth, were subjected to a molecular inversion probe array analysis. Copy number variations, particularly losses, were significantly higher in cases with sarcomatous overgrowth...
September 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Casey E Gooden, Patricia Jones, Ruth Bates, Wendy M Shallenberger, Urvashi Surti, Steven H Swerdlow, Christine G Roth
BACKGROUND: CD49d is emerging as a powerful adverse prognostic marker in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). However, flow cytometric testing for CD49d has not yet been widely adopted in the United States, in part due to the lack of establishment of its performance characteristics in the clinical setting, especially in comparison with the more common CLL/SLL prognostic markers CD38 and ZAP-70. METHODS: CD49d expression levels in 124 CLL/SLL cases were assessed among peripheral blood (PB), bone marrow (BM), and lymph node (LN) specimens and correlated with available CD38 and ZAP-70 expression and cytogenetic findings...
May 24, 2016: Cytometry. Part B, Clinical Cytometry
Ying An, Eun Lee, Yeongji Yu, Jieun Yun, Myeong Youl Lee, Jong Soon Kang, Woo-Young Kim, Raok Jeon
A novel series of benzoxazole analogs was designed and synthesized, and their inhibitory activities against Aurora kinases were evaluated. Some of the tested compounds exhibited a promising activity with respect to the inhibition of Aurora B kinase. A structure-activity relationship study indicated that linker length, regiochemistry, and halogen substitution play important roles in kinase inhibitory potency. The binding modes between representative compounds and Aurora kinases were interpreted through a molecular docking study to explain the inhibitory activity and selectivity for Aurora A and B kinases...
July 1, 2016: Bioorganic & Medicinal Chemistry Letters
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