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https://www.readbyqxmd.com/read/28212566/genetic-characterization-of-polish-ccrcc-patients-somatic-mutation-analysis-of-pbrm1-bap1-and-kdmc5-genomic-snp-array-analysis-in-tumor-biopsy-and-preliminary-results-of-chromosome-aberrations-analysis-in-plasma-cell-free-dna
#1
Katarzyna Kluzek, Malgorzata I Srebniak, Weronika Majer, Agnieszka Ida, Tomasz Milecki, Kinga Huminska, Robert M van der Helm, Adrian Silesian, Tomasz M Wrzesinski, Jacek Wojciechowicz, Berna H Beverloo, Zbigniew Kwias, Hans A R Bluyssen, Joanna Wesoly
BACKGROUND: Mutation analysis and cytogenetic testing in clear cell renal cell carcinoma (ccRCC) is not yet implemented in a routine diagnostics of ccRCC. MATERIAL AND METHODS: We characterized the chromosomal alterations in 83 ccRCC tumors from Polish patients using whole genome SNP genotyping assay. Moreover, the utility of next generation sequencing of cell free DNA (cfDNA) in patients plasma as a potential tool for non-invasive cytogenetic analysis was tested...
February 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28205427/utility-of-brca1-associated-protein-1-immunoperoxidase-stain-to-differentiate-benign-versus-malignant-mesothelial-proliferations-in-cytologic-specimens
#2
Zulfia McCroskey, Gregg Staerkel, Sinchita Roy-Chowdhuri
BACKGROUND: Loss of BAP1 has recently been described as a highly specific marker for distinguishing malignant mesotheliomas (MM) from benign mesothelial proliferations (BMP). The aim of this study was to evaluate the utility of BAP1 in cytospin and cell block (CB) preparations. METHODS: We searched the database at our institution for cases of MM (n = 21) and BMP (n = 11). A Papanicolaou stained cytospin preparation and CB section from each case were selected for BAP1 staining...
February 16, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28186555/a-population-based-analysis-of-germline-bap1-mutations-in-melanoma
#3
Sally J O'Shea, Carla Daniela Robles-Espinoza, Lauren McLellan, Jeanine Harrigan, Xavier Jacq, James Hewinson, Vivek Iyer, Will Merchant, Faye Elliott, Mark Harland, D Timothy Bishop, Julia A Newton-Bishop, David J Adams
No abstract text is available yet for this article.
February 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28170043/germline-and-somatic-bap1-mutations-in-high-grade-rhabdoid-meningiomas
#4
Ganesh M Shankar, Malak Abedalthagafi, Rachael A Vaubel, Parker H Merrill, Naema Nayyar, Corey M Gill, Ryan Brewster, Wenya Linda Bi, Pankaj K Agarwalla, Aaron R Thorner, David A Reardon, Ossama Al-Mefty, Patrick Y Wen, Brian M Alexander, Paul van Hummelen, Tracy T Batchelor, Keith L Ligon, Azra H Ligon, Matthew Meyerson, Ian F Dunn, Rameen Beroukhim, David N Louis, Arie Perry, Scott L Carter, Caterina Giannini, William T Curry, Daniel P Cahill, Frederick G Barker, Priscilla K Brastianos, Sandro Santagata
No abstract text is available yet for this article.
November 9, 2016: Neuro-oncology
https://www.readbyqxmd.com/read/28159633/ring-melanoma-of-the-anterior-chamber-angle-as-a-mimicker-of-pigmentary-glaucoma
#5
Anni Stadigh, Päivi Puska, Eija Vesti, Ari Ristimäki, Joni A Turunen, Tero T Kivelä
A 19-year-old man noticed blurred vision in his right eye. He had an intraocular pressure (IOP) of 60 mmHg, versus 12 mmHg in the fellow eye. He was initially diagnosed with an atypical, advanced pigmentary glaucoma. The IOP did not respond to maximal medication, deep sclerectomy, goniopuncture, and two cyclophotocoagulations. Sixteen months after presentation, malignancy was first suspected, and the eye was enucleated. A ring melanoma of the anterior chamber angle was confirmed by the histopathological examination...
January 31, 2017: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28135210/polypoid-spitz-nevus-with-a-halo-reaction
#6
Angel Fernandez-Flores, Marcela Saeb-Lima, José Luis Rodriguez-Peralto
Approximately, 2% of Spitz nevi are polypoid; between 3.6% and 7.4% present with a halo reaction. In tandem, these low percentages make the presence of a polypoid Spitz nevus with a halo reaction uncommon; we have not found reports of any previous cases. In the current report, we present a polypoid Spitz nevus with a halo reaction on the back of a 10-year-old male and discuss the morphologic findings. The lesion showed preserved nuclear expression of BAP1. There was no immunohistochemical expression of BRAF and ALK, while the melanocytic cells expressed p16...
February 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28122578/bap1-dependent-expression-of-long-non-coding-rna-neat-1-contributes-to-sensitivity-to-gemcitabine-in-cholangiocarcinoma
#7
Mansi Parasramka, Irene K Yan, Xue Wang, Phuong Nguyen, Akiko Matsuda, Sayantan Maji, Catherine Foye, Yan Asmann, Tushar Patel
BACKGROUND: Genetic alterations in chromatin modulators such as BRCA-1 associated protein-1 (BAP1) are the most frequent genetic alteration in intrahepatic cholangiocarcinomas (CCA). We evaluated the contribution of BAP1 expression on tumor cell behavior and therapeutic sensitivity to identify rationale therapeutic strategies. METHODS: The impact of BAP1 expression on sensitivity to therapeutic agents was evaluated in CCA cells with a 7-fold difference in BAP1 expression (KMBC-low, HuCCT1-high) and genetically engineered haplo-insufficient BAP1 knockout cells...
January 25, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28121081/familial-melanoma-and-multiple-primary-melanoma
#8
Paola DE Simone, Michele Valiante, Vitaliano Silipo
Cutaneous Melanoma (CM) is the most deadly of the common skin cancers and its incidence is rising worldwide contributing to significant health care burden (2). CM is considered the most lethal skin cancer if it is not detected and treated during its early stages (2). Susceptibility to CM is also associated with an increased presence of atypical nevi and the occurrence of multiple primary melanoma. Personal history of CM increases 5-8% the risk of developing a second melanoma. Finally, family history of melanoma has been widely associated with an increased melanoma risk (1)...
January 24, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28098597/sporadic-trichoblastomas-and-those-occurring-in-the-setting-of-multiple-familial-trichoepithelioma-brooke-spiegler-syndrome-show-no-bap1-loss
#9
Liubov Kyrpychova, Denisa Kacerovska, Michal Michal, Dmitry V Kazakov
No abstract text is available yet for this article.
January 12, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28062663/a-population-based-analysis-of-germline-bap1-mutations-in-melanoma
#10
Sally J O'Shea, Carla Daniela Robles-Espinoza, Lauren McLellan, Jeanine Harrigan, Xavier Jacq, James Hewinson, Vivek Iyer, Will Merchant, Faye Elliott, Mark Harland, D Timothy Bishop, Julia Newton-Bishop, David J Adams
Germline mutation of the BRCA1 associated protein-1 (BAP1) gene has been linked to uveal melanoma, mesothelioma, meningioma, renal cell carcinoma and basal cell carcinoma. Germline variants have also been found in familial cutaneous melanoma pedigrees, but their contribution to sporadic melanoma has not been fully assessed. We sequenced BAP1 in 1,977 melanoma cases and 754 controls and used deubiquitinase assays, a pedigree analysis, and a histopathological review to assess the consequences of the mutations found...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28054438/epigenetic-regulates-transcription-and-pathogenesis-in-the-parasite-trichomonas-vaginalis
#11
Tomas Pachano, Yesica R Nievas, Ayelen Lizarraga, Patricia J Johnson, Pablo H Strobl-Mazzulla, Natalia de Miguel
Trichomonas vaginalis is a common sexually transmitted parasite that colonizes the human urogenital tract. Infections range from asymptomatic to highly inflammatory, depending on the host and the parasite strain. Different T. vaginalis strains vary greatly in their adherence and cytolysis capacities. These phenotypic differences might be attributed to differentially expressed genes as a consequence of extra-genetic variation, such as epigenetic modifications. In this study we explored the role of histone acetylation in regulating gene transcription and pathogenesis in T...
January 5, 2017: Cellular Microbiology
https://www.readbyqxmd.com/read/28048816/mo-de-207b-05-predicting-gene-mutations-in-renal-cell-carcinoma-based-on-ct-imaging-features-validation-using-tcga-tcia-datasets
#12
X Chen, Z Zhou, K Thomas, J Wang
PURPOSE: The goal of this work is to investigate the use of contrast enhanced computed tomographic (CT) features for the prediction of mutations of BAP1, PBRM1, and VHL genes in renal cell carcinoma (RCC). METHODS: For this study, we used two patient databases with renal cell carcinoma (RCC). The first one consisted of 33 patients from our institution (UT Southwestern Medical Center, UTSW). The second one consisted of 24 patients from the Cancer Imaging Archive (TCIA), where each patient is connected by a unique identi?er to the tissue samples from the Cancer Genome Atlas (TCGA)...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28038708/usefulness-of-p16-cdkn2a-fluorescence-in-situ-hybridization-and-bap1-immunohistochemistry-for-the-diagnosis-of-biphasic-mesothelioma
#13
Di Wu, Kenzo Hiroshima, Toshikazu Yusa, Daisuke Ozaki, Eitetsu Koh, Yasuo Sekine, Shinji Matsumoto, Kazuki Nabeshima, Ayuko Sato, Tohru Tsujimura, Hisami Yamakawa, Yuji Tada, Hideaki Shimada, Masatoshi Tagawa
Malignant mesothelioma is a highly aggressive neoplasm, and the histologic subtype is one of the most reliable prognostic factors. Some biphasic mesotheliomas are difficult to distinguish from epithelioid mesotheliomas with atypical fibrous stroma. The aim of this study was to analyze p16/CDKN2A deletions in mesotheliomas by fluorescence in situ hybridization (FISH) and BAP1 immunohistochemistry to evaluate their potential role in the diagnosis of biphasic mesothelioma. We collected 38 cases of pleural mesotheliomas...
February 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28034829/bap1-is-altered-by-copy-number-loss-mutation-and-or-loss-of-protein-expression-in-more-than-70-of%C3%A2-malignant-peritoneal-mesotheliomas
#14
Noémie Leblay, Frédéric Leprêtre, Nolwenn Le Stang, Amandine Gautier-Stein, Laurent Villeneuve, Sylvie Isaac, Denis Maillet, Françoise Galateau-Sallé, Céline Villenet, Shéhérazade Sebda, Alexandra Goracci, Graham Byrnes, James D McKay, Martin Figeac, Olivier Glehen, François-Noël Gilly, Matthieu Foll, Lynnette Fernandez-Cuesta, Marie Brevet
INTRODUCTION: Malignant mesothelioma is a deadly disease that is strongly associated with asbestos exposure. Peritoneal mesotheliomas account for 10% of all the cases. BRCA1 associated protein 1 (BAP1) is a deubiquitinating hydrolase that plays a key role in various cellular processes. Germline and somatic inactivation of BRCA1 associated protein 1 gene (BAP1) is frequent in pleural mesothelioma; however, little is known about its status in peritoneal mesothelioma. METHODS: Taking advantage of the extensive French National Network for the Diagnosis of Malignant Pleural Mesothelioma and Rare Peritoneal Tumors and the French National Network for the Treatment of Rare Peritoneal Surface Malignancies, we collected biological material and clinical and epidemiological data for 46 patients with peritoneal mesothelioma...
December 27, 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28018010/uveal-melanoma-cell-lines-where-do-they-come-from-an-american-ophthalmological-society-thesis
#15
Martine J Jager, J Antonio Bermudez Magner, Bruce R Ksander, Sander R Dubovy
PURPOSE: To determine whether some of the most often used uveal melanoma cell lines resemble their original tumor. METHODS: Analysis of the literature, patient charts, histopathology, mutations, chromosome status, HLA type, and expression of melanocyte markers on cell lines and their primary tumors. We examined five cell lines and the primary tumors from which they were derived. RESULTS: Four of the five examined primary tumors were unusual: one occupied the orbit, two were recurrences after prior irradiation, and one developed in an eye with a nevus of Ota...
August 2016: Transactions of the American Ophthalmological Society
https://www.readbyqxmd.com/read/28007630/improving-the-accuracy-of-mesothelioma-diagnosis-in-china
#16
Zhenying Guo, Michele Carbone, Xing Zhang, Dan Su, Wenyong Sun, Jianlin Lou, Zhibin Gao, Dichu Shao, Junqiang Chen, Gu Zhang, Jinlin Hu, Kaiyan Chen, Fang Wang, Harvey I Pass, Herbert Yu, Andrea Napolitano, Haining Yang, Weiming Mao
INTRODUCTION: In the Western world, malignant mesothelioma (MM) is most prevalent in the pleura of older males who have been professionally exposed to asbestos. Information about MM from rapidly industrializing countries such as China is minimal. There is concern that a proportion of MM diagnoses in China may be incorrect because most Chinese physicians do not have experience diagnosing this rare cancer. We recently reported an unusually high incidence of peritoneal MM among eastern Chinese female patients...
December 19, 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27992592/effects-of-pi-and-piii-snake-venom-haemorrhagic-metalloproteinases-on-the-microvasculature-a-confocal-microscopy-study-on-the-mouse-cremaster-muscle
#17
Cristina Herrera, Mathieu-Benoit Voisin, Teresa Escalante, Alexandra Rucavado, Sussan Nourshargh, José María Gutiérrez
The precise mechanisms by which Snake Venom Metalloproteinases (SVMPs) disrupt the microvasculature and cause haemorrhage have not been completely elucidated, and novel in vivo models are needed. In the present study, we compared the effects induced by BaP1, a PI SVMP isolated from Bothrops asper venom, and CsH1, a PIII SVMP from Crotalus simus venom, on cremaster muscle microvasculature by topical application of the toxins on isolated tissue (i.e., ex vivo model), and by intra-scrotal administration of the toxins (i...
2016: PloS One
https://www.readbyqxmd.com/read/27990554/gna11-mutated-and-bap1-negative-melanomas-ex-blue-naevi-a-particularly-aggressive-entity
#18
Arnaud Uguen, Briac Guibourg, Sebastian Costa, Pascale Marcorelles
is missing (Short Communication).
December 8, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27984124/loss-of-brca1-associated-protein-1-bap1-expression-is-rare-in-non-small-cell-lung-cancer
#19
Daniel Owen, Brandon S Sheffield, Diana Ionescu, Andrew Churg
BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene involved in regulation of the cell cycle, cellular differentiation, repair of DNA damage and apoptosis. In the distinction of malignant mesothelioma from benign mesothelial proliferations, immunohistochemical loss of BAP1, the protein expressed by the BAP1 gene, has proven highly specific for malignant mesothelioma. However, few studies have investigated the rate of BAP1 loss in tumors that commonly metastasize to the pleura. Our objective is to determine the rate of BAP1 loss in non-small cell lung cancer (NSCLC)...
October 28, 2016: Human Pathology
https://www.readbyqxmd.com/read/27974237/copy-number-variation-analysis-and-methylome-profiling-of-a-gnaq-mutant-primary-meningeal-melanocytic-tumor-and-its-liver-metastasis
#20
Heidi V N Küsters-Vandevelde, Vibeke Kruse, Tom Van Maerken, Tom Boterberg, Rolph Pfundt, David Creytens, Caroline Van den Broecke, Trudi C Machielsen, Christian Koelsche, Andreas von Deimling, Benno Küsters, Patricia J T A Groenen, Pieter Wesseling, Willeke A M Blokx
Primary meningeal melanocytic tumors have genetic similarities with uveal melanomas, including GNAQ or GNA11 mutations. While BAP1 mutations and loss of chromosome 3 have adverse prognostic meaning in uveal melanoma, genetic alterations associated with metastasis have not been investigated in primary meningeal melanocytic tumors. We describe a 43-year-old female with a GNAQ-mutated, BAP1-wt melanocytic tumor originating in the parietal brain region and liver metastases 4years after initial diagnosis. After repeated surgery and chemotherapy she was treated with the immunomodulatory agent ipilimumab...
December 11, 2016: Experimental and Molecular Pathology
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