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https://www.readbyqxmd.com/read/28645808/primary-undifferentiated-small-round-cell-sarcoma-of-the-deep-abdominal-wall-with-a-novel-variant-of-t-10-19-cic-dux4-gene-fusion
#1
Yoshitane Tsukamoto, Hiroyuki Futani, Shinichi Yoshiya, Takahiro Watanabe, Takako Kihara, Shohei Matsuo, Seiichi Hirota
We experienced a 38-year-old Japanese male with t(10;19) CIC-DUX4 -positive undifferentiated small round cell sarcoma in the deep abdominal wall. Three months before his first visit to our hospital, he noticed a mass in his right abdominal wall. Computed tomography on admission revealed a solid abdominal tumor 70×53mm in size and multiple small tumors in both lungs. The biopsy of the abdominal tumor revealed undifferentiated small round cell sarcoma, suggestive of Ewing sarcoma. Under the clinical diagnosis of Ewing-like sarcoma of the abdominal wall with multiple lung metastases, several cycles of ICE (ifosfamide, carboplatin and etoposide) therapy were performed...
June 6, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28637242/yap-and-wwtr1-regulate-the-expression-of-sex-determining-genes-in-sertoli-cells-but-their-inactivation-does-not-cause-sex-reversal
#2
Adrien Levasseur, Marilène Paquet, Derek Boerboom, Alexandre Boyer
Yes-associated protein (YAP) and WW containing transcription regulator 1 (WWTR1) are two functionally redundant transcriptional regulators that are downstream effectors of the Hippo signaling pathway, and that act as major regulators of cell growth and differentiation. To elucidate their role in Sertoli cells, primary Sertoli cell culture from Yapflox/flox; Wwtr1flox/flox animals were infected with a Cre recombinase-expressing adenovirus. Concomitant inactivation of Yap and Wwtr1 resulted in a decrease in the mRNA levels of the male sex differentiation genes Dhh, Dmrt1, Sox9 and Wt1, whereas those of genes involved in female differentiation (Wnt4, Rspo1 and Foxl2) were induced...
June 16, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28592245/in-silico-identification-of-potential-key-regulatory-factors-in-smoking-induced-lung-cancer
#3
Salem A El-Aarag, Amal Mahmoud, Medhat H Hashem, Hatem Abd Elkader, Alaa E Hemeida, Mahmoud ElHefnawi
BACKGROUND: Lung cancer is a leading cause of cancer-related death worldwide and is the most commonly diagnosed cancer. Like other cancers, it is a complex and highly heterogeneous disease involving multiple signaling pathways. Identifying potential therapeutic targets is critical for the development of effective treatment strategies. METHODS: We used a systems biology approach to identify potential key regulatory factors in smoking-induced lung cancer. We first identified genes that were differentially expressed between smokers with normal lungs and those with cancerous lungs, then integrated these differentially expressed genes (DEGs) with data from a protein-protein interaction database to build a network model with functional modules for pathway analysis...
June 7, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28582342/expression-of-gata-3-in-testicular-and-gynecologic-mesothelial-neoplastic-and-non-neoplastic-tissues
#4
Arash Ronaghy, Guang-Qian Xiao, Eugene Santagada, Adnan Hasanovic, Pamela Unger
GATA-3 expression in testicular/gynecologic mesothelial neoplasms and benign mesothelia have not been completely investigated. We graded GATA-3, calretinin, and WT1 staining in 20 adenomatoid tumors [9/20 (para)testicular and 11/20 tubal/uterine] and 38 normal mesothelia (20/38 tunica vaginalis and 18/38 fallopian tubes) as either 0 (≤5%), +1 (>5% and <25%), +2 (≥25% and ≤50%), and +3 (>50%). Adenomatoid tumor GATA-3 staining: 2 urologic cases were positive (2/9, +3 and +1), no gynecologic cases were positive (0/11), and all were positive for WT1/calretinin (20/20,+2 to +3)...
June 2, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28573218/effect-of-thai-saraphi-flower-extracts-on-wt1-and-bcr-abl-protein-expression-in-leukemic-cell-lines
#5
Rungkarn Sangkaruk, Methee Rungrojsakul, Singkome Tima, Songyot Anuchapreeda
BACKGROUND: Saraphi (Mammea siamensis) is a Thai traditional herb. In this study, the cytotoxic effects of crude ethanolic and fractional extracts including hexane, ethyl acetate, and methanol fractions from M. siamensis flowers were investigated in order to determine their effect on WT1 expression in Molt4 and K562 cells and Bcr/Abl expression in K562 cells. MATERIALS AND METHODS: The flowers of M. siamensis were extracted using ethanol. The ethanol flower extract was further fractionated with hexane, ethyl acetate, and methanol...
2017: African Journal of Traditional, Complementary, and Alternative Medicines: AJTCAM
https://www.readbyqxmd.com/read/28570008/a-comparison-of-p53-and-wt1-immunohistochemical-expression-patterns-in-tubo-ovarian-high-grade-serous-carcinoma-before-and-after-neoadjuvant-chemotherapy
#6
Laura Casey, Martin Köbel, Raji Ganesan, Simone Tam, Rajeev Prasad, Steffen Böhm, Michelle Lockley, Arjun J Jeyarajah, Eleanor Brockbank, Asma Faruqi, C Blake Gilks, Naveena Singh
AIMS: Treatment of patients with tubo-ovarian high-grade serous carcinoma (HGSC) is increasingly based on diagnosis on small biopsy samples and the first surgical specimen is often post-chemotherapy. p53 and WT1 are important diagnostic markers for HGSC. The effect of neo-adjuvant chemotherapy on p53 and WT1 expression has not been widely studied. We aimed to compare p53 and WT1 expression in paired pre- and post-chemotherapy samples of HGSC. METHODS AND RESULTS: Immunohistochemistry (IHC) was carried out for p53 and WT1 on paired omental HGSC samples pre- and post-chemotherapy...
June 1, 2017: Histopathology
https://www.readbyqxmd.com/read/28567073/quantitative-assessment-of-wilms-tumor-1-expression-by-real-time-quantitative-polymerase-chain-reaction-in-patients-with-acute-myeloblastic-leukemia
#7
Hossein Ayatollahi, Mohammad Hadi Sadeghian, Mahmood Naderi, Amir Hossein Jafarian, Seyyede Fatemeh Shams, Neda Motamedirad, Maryam Sheikhi, Afsane Bahrami, Sepideh Shakeri
BACKGROUND: The Wilms tumor 1 (WT1) gene is originally defined as a tumor suppressor gene and a transcription factor that overexpressed in leukemic cells. It is highly expressed in more than 80% of acute myeloid leukemia (AML) patients, both in bone marrow (BM) and in peripheral blood (PB), and it is used as a powerful and independent marker of minimal residual disease (MRD); we have determined the expression levels of the WT1 by real-time quantitative polymerase chain reaction (RQ-PCR) in PB and BM in 126 newly diagnosed AML patients...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28544366/enumeration-of-wt1-specific-cd8-t-cells-for-clinical-application-using-an-mhc-streptamer-based-no-wash-single-platform-flow-cytometric-assay
#8
Sarah Matko, Madeleine Teichert, Antje Tunger, Marc Schmitz, Martin Bornhauser, Torsten Tonn, Marcus Odendahl
The advent of novel strategies to generate leukemia-associated-antigen (LAA)-specific T cells for adoptive immunotherapies creates a demand for standardized good laboratory practice (GLP)-compliant enumeration assays to provide a secure clinical environment-whether it is to identify potential donors, define therapeutic doses for transplantation, or monitor clinical success. Here, we introduce a no-wash assay based on single-platform cell enumeration and Streptamer staining to determine the Wilms' tumor antigen 1 (WT1)-specific T cell immunity in clinical samples...
May 25, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/28543860/a-unique-case-of-bilateral-ovarian-splenosis-and-review-of-the-literature
#9
Maria Giulia Disanto, Francesca Mercalli, Andrea Palicelli, Alberto Arnulfo, Renzo Boldorini
Splenosis is an acquired anomaly related to heterotopic auto-transplantation of splenic tissue following abdominal trauma or splenectomy. We report the first definitive bilateral ovarian case in a 65-year-old woman who underwent splenectomy following a motor vehicle accident 44 years prior to presentation. We review the literature and discuss the main differential diagnoses. Gross examination revealed a 1-cm well-circumscribed dark nodule on the surface of each ovary. Paraffin-embedded, formalin-fixed blocks were sectioned and stained with hematoxylin-eosin and immunostains (CK5/6, Calretinin, WT1, Vimentin)...
May 25, 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28542793/the-genetic-factors-contributing-to-the-development-of-wilm-s-tumor-and-their-clinical-utility-in-its-diagnosis-and-prognosis
#10
REVIEW
Afsane Bahrami, Marjan Joodi, Mina Maftooh, Gordon A Ferns, Mehrdad Ahmadi, Seyed Mahdi Hassanian, Amir Avan
Mutations in the Wilm's tumor 1 (WT1) gene are associated with a wide spectrum of renal manifestations, ultimately leading to end-stage kidney failure. There is an inadequate understanding of the molecular functions of WT1 in renal development, and this has limited the potential for therapeutic interventions in WT1-related diseases. In this review we discuss the existing data on the genetic and epigenetic abnormalities that have been described in WTs and their potential utility as biomarkers for risk stratification, prediction and prognosis in patients withWTs...
May 20, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28534317/wt1-alternative-splicing-role-of-its-isoforms-in-neuroblastoma
#11
REVIEW
Daniela Maria Rasà, Agata Grazia D'Amico, Grazia Maugeri, Sebastiano Cavallaro, Velia D'Agata
Wilms tumor 1 (WT1), a tumor suppressor gene, was originally identified in the homonymous renal neoplasm but is also involved in other cancers. Its function is still unclear, since it acts both as a pro- and an anti-oncogene. At least 14 WT1 transcriptional variants have been described; yet most investigations have focused on a small number of isoforms. We describe their structural features and review the evidence of their involvement in cancer with emphasis on neuroblastoma. In future, full characterization of all WT1 isoforms is expected to identify new molecular tumor markers and/or therapeutic targets...
June 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28527702/crispr-cas9-induced-disruption-of-wt1a-and-wt1b-reveals-their-different-roles-in-kidney-and-gonad-development-in-nile-tilapia
#12
Dongneng Jiang, Jinlin Chen, Zheng Fan, Dejie Tan, Jiue Zhao, Hongjuan Shi, Zhilong Liu, Wenjing Tao, Minghui Li, Deshou Wang
Wilms tumor 1 (Wt1) is an essential factor for urogenital system development. Teleosts have two wt1s, named as wt1a and wt1b. In this study, the expression pattern of wt1a and wt1b and their functions on the urogenital system were analyzed by in situ hybridization and CRISPR/Cas9. wt1a was found to be expressed in the glomerulus at 3 dah (days after hatching), earlier than wt1b. wt1a and wt1b were simultaneously expressed in the somatic cells of gonads at 3 dah, while their cell locations were similar, but not identical in adult fish gonads...
May 18, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28522325/generation-of-chromosomal-translocations-that-lead-to-conditional-fusion-protein-expression-using-crispr-cas9-and-homology-directed-repair
#13
Fabio Vanoli, Maria Jasin
Recurrent chromosomal translocations often lead to expression of fusion proteins associated with oncogenic transformation. To study translocations and downstream events, genome editing techniques have been developed to generate chromosomal translocations through non-homologous end joining of DNA double-strand breaks introduced at the two participating endogenous loci. However, the frequencies at which these events occur is usually too low to efficiently clone cells carrying the translocation. This article provides a detailed method using CRISPR-Cas9 technology and homology-directed repair to efficiently isolate cells harboring a chromosomal translocation...
May 15, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28521413/chromosome-t-7-11-p15-p15-translocation-in-acute-myeloid-leukemia-coexisting-with-multilineage-dyspoiesis-and-mutations-in-nras-and-wt1-a-case-report-and-literature-review
#14
Jingke Yang, Xiaodong Lyu, Xinghu Zhu, Xiangguang Meng, Wenli Zuo, Hao Ai, Mei Deng
The chromosomal translocation t(7;11)(p15;p15) and the resulting nucleoporin 98-homeobox A9 (NUP98-HOXA9) gene fusion is rare but recurrent genetic abnormity in acute myeloid leukemia (AML). The present study describes a case of AML plus maturation (-M2) with multilineage dyspoiesis in a 30-year-old male in whom a 46,XY,t(7;11)(p15;p15) karyotype was detected through chromosome analysis. Subsequent molecular and sequencing analysis demonstrated a NUP98-HOXA9 fusion gene with a type I fusion between NUP98 exon 12 and HOXA9 exon 1b, and mutations in neuroblastoma V-Ras oncogene homolog and Wilms tumor 1...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28505004/a-subset-of-malignant-mesotheliomas-in-young-adults-are-associated-with-recurrent-ewsr1-fus-atf1-fusions
#15
Patrice Desmeules, Philippe Joubert, Lei Zhang, Hikmat A Al-Ahmadie, Christopher D Fletcher, Efsevia Vakiani, Deborah F Delair, Natasha Rekhtman, Marc Ladanyi, William D Travis, Cristina R Antonescu
Malignant mesothelioma (MM) is a rare, aggressive tumor often associated with asbestos exposure and characterized by complex genetic abnormalities, including deletions of chromosome 22. A gene fusion involving EWSR1 and YY1 gene on 14q32 has been reported in 2 patients over the age of 60 with peritoneal MM. However, the incidence of EWSR1 rearrangements in MM and the spectrum of its fusion partners remain unknown. We recently encountered 2 MM cases with EWSR1-ATF1 fusions and sought to investigate the prevalence and clinicopathologic features associated with this abnormality...
July 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28498419/mir-590-regulates-wt1-during-proliferation-of-g401-cells
#16
Liyi Hong, Xu Zhao, Xuejun Shao, Hong Zhu
Nephroblastoma (Wilms' tumor) is frequently associated with mortality in children. MicroRNAs (miRNAs) are important for tumor development serving as oncogenes or tumor suppressors. In the present study, miRNA‑590 (miR‑590) was identified to be upregulated in Wilms' tumor tissues compared with the normal adjacent tissues. Additionally, the levels of miR‑590 were consistent with their clinical stage. Wilms' tumor 1 (WT1) was considered to be a tumor suppressor in certain tumor types, and it has been detected at low expression levels in various types of cancer with high cell proliferation and aggressive behavior...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28495917/combining-flow-cytometry-and-wt1-assessment-improves-the-prognostic-value-of-pre-transplant-minimal-residual-disease-in-acute-myeloid-leukemia
#17
Fabio Guolo, Paola Minetto, Marino Clavio, Maurizio Miglino, Federica Galaverna, Anna Maria Raiola, Carmen Di Grazia, Nicoletta Colombo, Sarah Pozzi, Adalberto Ibatici, Samuele Bagnasco, Daniela Guardo, Annalisa Kunkl, Filippo Ballerini, Chiara Ghiggi, Roberto M Lemoli, Marco Gobbi, Andrea Bacigalupo
No abstract text is available yet for this article.
May 11, 2017: Haematologica
https://www.readbyqxmd.com/read/28494767/intestinal-differentiated-mucinous-adenocarcinoma-of-the-endometrium-with-sporadic-msi-high-status-a-case-report
#18
Mafalda Trippel, Sara Imboden, Andrea Papadia, Michael D Mueller, Nando Mertineit, Kirsi Härmä, Alina Nicolae, Erik Vassella, Tilman T Rau
BACKGROUND: Intestinal differentiation of primary mucinous adenocarcinoma of the uterine corpus is exceedingly rare in comparison to the approximately 25% rate in endocervical and ovarian mucinous carcinoma. Additionally, little is known about the related genetic and epigenetic alterations, even though large-scale molecular characterisation of the different types of endometrial cancer took place in the TCGA project along the entities defined by the recent WHO classification. CASE PRESENTATION: We present a 62-year-old patient harbouring a primary mucinous carcinoma of the uterine corpus with a morphological resemblance to mucinous colorectal adenocarcinoma...
May 12, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28493961/aldosterone-signaling-regulates-the-over-expression-of-claudin-4-and-8-at-the-distal-nephron-from-type-1-diabetic-rats
#19
Eduardo Molina-Jijón, Rafael Rodríguez-Muñoz, Ricardo González-Ramírez, Carmen Namorado-Tónix, José Pedraza-Chaverri, Jose L Reyes
Hyperglycemia in diabetes alters tight junction (TJ) proteins in the kidney. We evaluated the participation of aldosterone (ALD), and the effect of spironolactone (SPL), a mineralocorticoid receptor antagonist, on the expressions of claudin-2, -4, -5 and -8, and occludin in glomeruli, proximal and distal tubules isolated from diabetic rats. Type 1 diabetes was induced in female Wistar rats by a single tail vein injection of streptozotocin (STZ), and SPL was administrated daily by gavage, from days 3-21. Twenty-one days after STZ injection the rats were sacrificed...
2017: PloS One
https://www.readbyqxmd.com/read/28493604/cic-break-apart-fluorescence-in-situ-hybridisation-misses-a-subset-of-cic-dux4-sarcomas-a-clinicopathological-and-molecular-study
#20
Akihiko Yoshida, Yasuhito Arai, Eisuke Kobayashi, Kan Yonemori, Koichi Ogura, Natsuko Hama, Wakako Mukai, Toru Motoi, Akira Kawai, Tatsuhiro Shibata, Nobuyoshi Hiraoka
AIMS: Approximately 60-70% of high-grade round-cell sarcomas that lack the EWSR1 rearrangement harbour a rearrangement of the CIC gene, most commonly CIC-DUX4. Recent studies have established that CIC-rearranged sarcomas constitute a distinct group characterised by recognisable histology and immunoprofiles, such as positivity for ETV4 and WT1 and negativity for NKX2.2. Although these sarcomas are increasingly diagnosed in practice by fluorescence in situ hybridisation (FISH) with CIC break-apart probes, the optimal modality to diagnose these sarcomas has not been determined...
May 11, 2017: Histopathology
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