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https://www.readbyqxmd.com/read/28324028/a-duodenal-sdh-deficient-gastrointestinal-stromal-tumor-in-a-patient-with-a-germline-sdhb-mutation
#1
M S Elston, S Sehgal, M Dray, E Phillips, J V Conaglen, R J Clifton-Bligh, A J Gill
Context: Gastrointestinal Stromal Tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract arising from the interstitial cells of Cajal. Succinate dehydrogenase (SDH) deficient GISTs are a unique class of GIST defined by: loss of immunohistochemical expression of SDHB indicating dysfunction of the mitochondrial complex 2, lack of driver mutations in KIT and PDGFRA, and a distinctive morphology and natural history. To date, all reported SDH-deficient GISTs have arisen in the stomach...
March 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28288036/gist-manifesting-as-a-retroperitoneal-tumor-clinicopathologic-immunohistochemical-and-molecular-genetic-study-of-112-cases
#2
Markku Miettinen, Anna Felisiak-Golabek, Zengfeng Wang, Shingo Inaguma, Jerzy Lasota
Most gastrointestinal stromal tumors (GISTs) occur in the tubular gastrointestinal (GI) tract, but some present apparently outside the GI tract. In this study, we analyzed 112 GISTs located in the retroperitoneum. These tumors occurred in 55 women and 57 men with a median age of 65 years (range: 21 to 89 y). On the basis of clinically or histologically detected connections to GI tract, 15 tumors were considered likely of gastric, 9 duodenal, and 13 of small intestinal origin. The remaining cases were categorized by location as peripancreatic (n=25), pelvic (n=11), mesenteric (n=4), and of unspecified/miscellaneous sites (n=35)...
March 10, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28240777/a-laboratory-simulation-of-arabidopsis-seed-dormancy-cycling-provides-new-insight-into-its-regulation-by-clock-genes-and-the-dormancy-related-genes-dog1-mft-cipk23-and-phya
#3
Steven Footitt, Hülya Ölcer-Footitt, Angela J Hambidge, William E Finch-Savage
Environmental signals drive seed dormancy cycling in the soil to synchronise germination with the optimal time of year; a process essential for species fitness and survival. Previous correlation of transcription profiles in exhumed seeds with annual environmental signals revealed the coordination of dormancy regulating mechanisms with the soil environment. Here, we developed a rapid and robust laboratory dormancy cycling simulation. The utility of this simulation was tested in two ways. Firstly using mutants in known dormancy-related genes (DELAY OF GERMINATION 1 (DOG1), MOTHER OF FLOWERING TIME (MFT), CBL-INTERACTING PROTEIN KINASE 23 (CIPK23) and PHYTOCHROME A (PHYA))...
February 27, 2017: Plant, Cell & Environment
https://www.readbyqxmd.com/read/28044310/the-diagnostic-and-prognostic-utility-of-dog1-expression-on-gastrointestinal-stromal-tumors
#4
Sevinç Şahin, Özgür Ekinci, Selda Seçkin, Ayşe Dursun
OBJECTIVE: We aimed to review our archives in order to evaluate both the diagnostic and prognostic significance of DOG1 on gastrointestinal stromal tumors (GISTs), and add further insight about those issues to the current literature including some conflicting results. MATERIAL AND METHOD: DOG1 was evaluated in 100 cases of GISTs, immunohistochemically. Immunostaining index was counted for each antibody by using both the intensity and extent of staining. The association between immunostaining index of DOG1 and CD117, CD34, SMA desmin, S-100, and Ki-67 index and clinicopathological features were analyzed...
2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28034324/p16-overexpression-in-braf-mutated-gastrointestinal-stromal-tumors
#5
Shan-Shan Shi, Xuan Wang, Qiu-Yuan Xia, Qiu Rao, Qin Shen, Sheng-Bin Ye, Rui Li, Qun-Li Shi, Zhen-Feng Lu, Heng-Hui Ma, Xiao-Jun Zhou
BACKGROUND: The aims of this study were to analyze the histopathology, immunophenotype, molecular features, and prognosis in cases of BRAF-mutated gastrointestinal stromal tumors (GISTs) and to examine the p16 expression in these tumors, and further discuss its effects on tumor formation and progression. METHODS: In all, 283 GIST cases (201 KIT mutants, 12 PDGFRA mutants and 70 wild-type) from the 2010 to 2014 surgical pathology files of the Department of Pathology at Nanjing Jinling Hospital were analyzed for mutations in BRAF exon 15...
December 30, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27856735/control-of-seed-dormancy-in-arabidopsis-by-a-cis-acting-noncoding-antisense-transcript
#6
Halina Fedak, Malgorzata Palusinska, Katarzyna Krzyczmonik, Lien Brzezniak, Ruslan Yatusevich, Zbigniew Pietras, Szymon Kaczanowski, Szymon Swiezewski
Seed dormancy is one of the most crucial process transitions in a plant's life cycle. Its timing is tightly controlled by the expression level of the Delay of Germination 1 gene (DOG1). DOG1 is the major quantitative trait locus for seed dormancy in Arabidopsis and has been shown to control dormancy in many other plant species. This is reflected by the evolutionary conservation of the functional short alternatively polyadenylated form of the DOG1 mRNA. Notably, the 3' region of DOG1, including the last exon that is not included in this transcript isoform, shows a high level of conservation at the DNA level, but the encoded polypeptide is poorly conserved...
November 29, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27720350/cytogenetic-and-immunohistochemical-characterization-of-mammary-analogue-secretory-carcinoma-of-salivary-glands
#7
Syed A Khurram, Jemel Sultan-Khan, Neil Atkey, Paul M Speight
OBJECTIVES: Mammary analogue secretory carcinoma (MASC), initially considered a subset of acinic cell carcinoma (ACC), harbors an ETV6 translocation [t(12:15)(p13:25 q)] and is now regarded as a distinct entity. Several putative markers to differentiate MASC from ACC have been reported; however, the immunohistochemical profile is still being explored and updated. The purpose of this study was to further explore the cytogenetic and immunohistochemical profile of MASC. STUDY DESIGN: Cases were analyzed for ETV6 translocation using fluorescent in situ hybridization and stained for CK8, amylase, mammaglobin, GCDFP-15, MUC1, MUC4, STAT5a, Ki-67 (n = 37), CK7, Cam5...
December 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/27679465/carcinosarcoma-of-the-ampulla-of-vater-a-case-report-and-literature-review
#8
Hideki Izumi, Naoki Yazawa, Daisuke Furukawa, Yoshihito Masuoka, Misuzu Yamada, Taro Mashiko, Yohei Kawashima, Masami Ogawa, Yoshiaki Kawaguchi, Tetsuya Mine, Kenichi Hirabayashi, Toshio Nakagohri
BACKGROUND: Carcinosarcoma of the ampulla of Vater is extremely rare, and to the best of our knowledge, this is the third reported study. CASE PRESENTATION: The patient was a 73-year-old man, who presented with a chief complaint of dark urine. After a work-up, we suspected duodenal papillary cancer and performed a subtotal stomach-preserving pancreaticoduodenectomy with lymph node dissection. Immunohistochemically, the sarcomatous atypical cells were diffusely positive for cytokeratin AE1&3 and vimentin and focally positive for α-smooth muscle actin; these cells were also negative for desmin, CD34, DOG1, c-kit, and S100...
December 2016: Surgical Case Reports
https://www.readbyqxmd.com/read/27670353/combined-dog1-and-mammaglobin-immunohistochemistry-is-comparable-to-etv6-breakapart-analysis-for-differentiating-between-papillary-cystic-variants-of-acinic-cell-carcinoma-and-mammary-analogue-secretory-carcinoma
#9
Nasser Said-Al-Naief, Roman Carlos, Gail H Vance, Caroline Miller, Paul C Edwards
Background We investigated the reliability of combined DOG1 and mammaglobin immunohistochemistry compared with ETV6 fluorescence in situ hybridization (FISH) in the assessment of salivary tumors previously diagnosed as acinic cell carcinoma (ACC). Ultrastructural features of cases reclassified as mammary analogue secretory carcinoma (MASC) were assessed by transmission electron microscopy (TEM). Methods Immunohistochemical (IHC) reactivity to DOG1 and mammaglobin was validated against FISH targeting the ETV6 gene in all 14 cases...
September 26, 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27506854/the-role-of-dog1-immunohistochemistry-in-dermatopathology
#10
Keisuke Goto
BACKGROUND: This study was designed to evaluate the immunoexpression of DOG1, a specific marker expressed in gastrointestinal stromal tumors, in normal skin tissues and cutaneous epithelial tumors. METHODS: DOG1 immunostaining extent, intensity and pattern were evaluated in 69 cutaneous apocrine/eccrine tumors, 11 sebaceous tumors, 46 follicular tumors, 52 keratinocytic tumors and perilesional normal tissues. RESULTS: In normal tissues, DOG1 was expressed strongly in the intercellular canaliculi of eccrine glands, moderately in the myoepithelial cells of mammary and anogenital mammary-like glands, and weakly or not at all in the periphery of sebaceous lobules and the lower layer of epidermis and follicular infundibulum...
November 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27481777/identification-of-nuclear-genes-affecting-2-deoxyglucose-resistance-in-schizosaccharomyces-pombe
#11
Akshay Vishwanatha, Charalampos Rallis, Shubha Bevkal Subramanyaswamy, Cletus Joseph Michael D'Souza, Jürg Bähler, Martin Ernst Schweingruber
2-Deoxyglucose (2-DG) is a toxic glucose analog. To identify genes involved in 2-DG toxicity in Schizosaccharomyces pombe, we screened a wild-type overexpression library for genes which render cells 2-DG resistant. A gene we termed odr1, encoding an uncharacterized hydrolase, led to strong resistance and altered invertase expression when overexpressed. We speculate that Odr1 neutralizes the toxic form of 2-DG, similar to the Saccharomyces cerevisiae Dog1 and Dog2 phosphatases which dephosphorylate 2-DG-6-phosphate synthesized by hexokinase...
September 2016: FEMS Yeast Research
https://www.readbyqxmd.com/read/27446428/gastrointestinal-tract-spindle-cell-tumors-with-interstitial-cells-of-cajal-prevalence-excluding-gastrointestinal-stromal-tumors
#12
So Jung Lee, Chung Su Hwang, Ahrong Kim, Kyungbin Kim, Kyung Un Choi
Leiomyomas and schwannomas of the gastrointestinal tract (GIT) are mainly comprised of spindle-shaped tumor cells and should always be differentiated from gastrointestinal stromal tumors (GISTs). Mast/stem cell growth factor receptor Kit (KIT) and discovered on GIST-1 (DOG1) are well-known diagnostic markers for the detection of a GIST by immunohistochemical staining. The aim of the present study was to assess the prevalence and significance of spindle cell tumors of the GIT with KIT- or DOG1-positive spindle-shaped cells, presumed to be interstitial cells of Cajal (ICCs), other than GISTs...
August 2016: Oncology Letters
https://www.readbyqxmd.com/read/27428222/unusual-focal-keratin-expression-in-plexiform-angiomyxoid-myofibroblastic-tumor-a-case-report-and-review-of-the-literature
#13
REVIEW
Giuseppe Quero, Teresa Musarra, Alfredo Carrato, Michelangelo Fici, Maurizio Martini, Angelo Paolo Dei Tos, Sergio Alfieri, Riccardo Ricci
BACKGROUND: Plexiform angiomyxoid myofibroblastic tumor (PAMT), also known as plexiform fibromyxoma, is a rare distinctive benign intramural tumor, typical of gastric antrum, commonly causing mucosal ulceration with upper gastrointestinal bleeding and anemia, effectively treated by complete surgical resection usually accomplished by distal gastrectomy. METHODS AND RESULTS: We herein report a 47-year-old man presenting with a syncopal episode, regurgitation and epigastric discomfort, bearing a gastric antral myxoid plexiform tumor positive for α-smooth muscle actin, vimentin and, partially, for caldesmon, desmin, and CD10; CD117, DOG1, CD34, S100, CAM5...
July 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27422468/interstitial-cells-of-cajal-in-deep-esophageal-leiomyoma
#14
Magnus Hallin, Satvinder Mudan, Khin Thway
Gastrointestinal stromal tumors (GISTs) are potentially aggressive mesenchymal neoplasms with spindle cell, epithelioid, or mixed morphology. They typically express CD117, DOG1, and CD34 and can be diffusely and strongly positive for h-caldesmon. Leiomyomas are benign smooth muscle neoplasms that can arise in a variety of visceral and soft tissue sites, including the gastrointestinal tract. We illustrate a case of a neoplasm of the gastroesophageal junction that was clinically suspected to be a GIST. Histology showed a tumor composed of ovoid and spindle cells arranged in short intersecting fascicles, which was positive for desmin, smooth muscle actin, and h-caldesmon, with a prominent interspersed subpopulation of CD117- and DOG1-positive elongated or dendritic-like cells...
February 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27272836/expression-of-dog1-using-sp31-in-poorly-differentiated-carcinoma-of-the-head-and-neck
#15
Reinhard E Friedrich, Tina Wunder, Udo Schumacher, Sylva Bartel-Friedrich, Jozef Zustin
BACKGROUND: The calcium-activated chloride channel protein discovered on gastrointestinal stromal tumour 1 (DOG1) is expressed in a variety of normal and neoplastic tissues. DOG1 is a specific marker for gastrointestinal stromal tumour. In the head and neck region, DOG1 is a sensitive discriminator for acinar cell carcinoma. Only a few publications have presented data concerning the expression of DOG1 in head and neck squamous cell carcinoma (HNSCC). The expression of DOG1 in HNSCC appears to be associated with a poor prognosis...
June 2016: Anticancer Research
https://www.readbyqxmd.com/read/27259319/study-on-clinicopathological-features-of-gastrointestinal-stromal-tumor-and-relevant-prognostic-factors
#16
Qiuyu Liu, Yonggong Wang, Lingfei Kong, Yunzhen Kan
The objective of the study is to investigate and analyze clinicopathological features of gastrointestinal stromal tumor (GIST) and relevant prognostic factors. Between September 2008 and April 2014, 168 patients who presented with pathologically confirmed GIST and underwent surgical resection of the tumors in our institution were included in this study. A retrospective study on clinicopathological features of the disease and follow-up study on 1-year, 3-year, and 5-year survival rates were performed. Of 168 patients, 113 were males and 55 females of age ranging from 18 to 78 years (mean age 52...
December 2015: Cell Biochemistry and Biophysics
https://www.readbyqxmd.com/read/27178821/pdgfra-and-kit-mutation-status-and-its-association-with-clinicopathological-properties-including-dog1
#17
Yasemin Baskin, Gizem Calibasi Kocal, Betul Bolat Kucukzeybek, Mahdi Akbarpour, Nurcin Kayacik, Ozgul Sagol, Hulya Ellidokuz, Ilhan Oztop
Most of the gastrointestinal stromal tumors (GISTs) have gain-of-function mutations in the KIT gene, which can be used as a prognostic marker for the biological behavior of tumors, predictive marker for the response of tyrosine kinase inhibitors, and diagnostic marker. Researchers have focused on PDGFRA mutations because of both their prognostic and predictive potential and DOG1 positivity for diagnosis on GISTs. The aim of this study is to investigate the effect DOG1, PDGFRA, and KIT mutations on the prediction of the outcome for GIST management...
2016: Oncology Research
https://www.readbyqxmd.com/read/27177644/lysozyme-expression-can-be-useful-to-distinguish-mammary-analog-secretory-carcinoma-from-acinic-cell-carcinoma-of-salivary-glands
#18
Fernanda Viviane Mariano, Camila Andrea Concha Gómez, Juliana de Souza do Nascimento, Harim Tavares Dos Santos, Erika Said Egal, Victor Angelo Martins Montalli, Pablo Agustin Vargas, Oslei Paes de Almeida, Albina Altemani
Lysozyme is an enzymatic marker of acinar and intercalated duct cells of normal salivary glands. The aim of this study was to verify whether lysozyme expression could be useful to distinguish acinic cell carcinoma (ACC) from its main mimic, mammary analog secretory carcinoma (MASC). For comparison, DOG1 expression was analyzed as well. Seventeen cases of ACC, 15 MASC, and 125 other salivary tumors were studied. Lysozyme expression was found in tumor cells as well as in secreted material of MASC (86.6 % of cases) and in ductal cells of epithelial-myoepithelial carcinoma (EMC-53...
December 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27153560/circulating-tumor-cells-as-a-prognostic-and-predictive-marker-in-gastrointestinal-stromal-tumors-a-prospective-study
#19
Qiang Li, Xiaofei Zhi, Jianping Zhou, Ran Tao, Jiaxuan Zhang, Peisheng Chen, Oluf Dimitri Røe, Luning Sun, Lilin Ma
BACKGROUND: Circulating tumor cells (CTC) are prognostic and predictive for several cancer types. Only limited data exist regarding prognostic or predictive impact of CTC on gastrointestinal stromal tumor (GIST) patients. The aim of our study was to elucidate the role of CTC in GIST patients. RESULTS: A total of 121 GIST patients and 54 non-GIST samples were enrolled in the study. The cutoff value for ANO1 positive was 3*10-5 and 65 (54%) GIST patients were defined as ANO1 positive...
June 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27139779/statistical-learning-is-constrained-to-less-abstract-patterns-in-complex-sensory-input-but-not-the-least
#20
Lauren L Emberson, Dani Y Rubinstein
The influence of statistical information on behavior (either through learning or adaptation) is quickly becoming foundational to many domains of cognitive psychology and cognitive neuroscience, from language comprehension to visual development. We investigate a central problem impacting these diverse fields: when encountering input with rich statistical information, are there any constraints on learning? This paper examines learning outcomes when adult learners are given statistical information across multiple levels of abstraction simultaneously: from abstract, semantic categories of everyday objects to individual viewpoints on these objects...
August 2016: Cognition
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