Now showing items 1-15 of 15

    • Ambient mass spectrometry for the intraoperative molecular diagnosis of human brain tumors 

      Eberlin, L. S.; Norton, I.; Orringer, D.; Dunn, Ian Frederick; Liu, X.; Ide, J. L.; Jarmusch, A. K.; Ligon, Keith Lloyd; Jolesz, Ferenc A.; Golby, Alexandra Jacqueline; Santagata, Sandro; Agar, Nathalie Marie Yvonne Rachel; Cooks, R. G. (Proceedings of the National Academy of Sciences, 2013)
      The main goal of brain tumor surgery is to maximize tumor resection while preserving brain function. However, existing imaging and surgical techniques do not offer the molecular information needed to delineate tumor ...
    • Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5 

      Abedalthagafi, Malak S.; Merrill, Parker H.; Bi, Wenya Linda; Jones, Robert T.; Listewnik, Marc L.; Ramkissoon, Shakti H.; Thorner, Aaron R.; Dunn, Ian F.; Beroukhim, Rameen; Alexander, Brian M.; Brastianos, Priscilla K.; Francis, Joshua M.; Folkerth, Rebecca D.; Ligon, Keith L.; Hummelen, Paul Van; Ligon, Azra H.; Santagata, Sandro (Impact Journals LLC, 2014)
      Meningiomas are a diverse group of tumors with a broad spectrum of histologic features. There are over 12 variants of meningioma, whose genetic features are just beginning to be described. Angiomatous meningioma is a World ...
    • BRAF V600E Mutations are Common in Pleomorphic Xanthoastrocytoma: Diagnostic and Therapeutic Implications 

      Lam, Quynh; Vernovsky, Kathy; Vena, Natalie; Lennerz, Jochen K.; Dias-Santagata, Dora; Borger, Darrell R.; Batchelor, Tracy Todd; Ligon, Keith Lloyd; Iafrate, Anthony John; Ligon, Azra Hadi; Louis, David Neil; Santagata, Sandro; Dias-Santagata, Dora (Public Library of Science, 2011)
      Pleomorphic xanthoastrocytoma (PXA) is low-grade glial neoplasm principally affecting children and young adults. Approximately 40% of PXA are reported to recur within 10 years of primary resection. Upon recurrence, patients ...
    • Clinical multiplexed exome sequencing distinguishes adult oligodendroglial neoplasms from astrocytic and mixed lineage gliomas 

      Cryan, Jane B.; Haidar, Sam; Ramkissoon, Lori A.; Bi, Wenya Linda; Knoff, David S.; Schultz, Nikolaus; Abedalthagafi, Malak; Brown, Loreal; Wen, Patrick Y.; Reardon, David A.; Dunn, Ian F.; Folkerth, Rebecca D.; Santagata, Sandro; Lindeman, Neal I.; Ligon, Azra H.; Beroukhim, Rameen; Hornick, Jason L.; Alexander, Brian M.; Ligon, Keith L.; Ramkissoon, Shakti H. (Impact Journals LLC, 2014)
      Classifying adult gliomas remains largely a histologic diagnosis based on morphology; however astrocytic, oligodendroglial and mixed lineage tumors can display overlapping histologic features. We used multiplexed exome ...
    • CRX is a Diagnostic Marker of Retinal and Pineal Lineage Tumors 

      Santagata, Sandro; Maire, Cecile; Idbaih, Ahmed; Geffers, Lars; Correll, Mick; Holton, Kristina; Quackenbush, John; Ligon, Keith Lloyd (Public Library of Science, 2009)
      Background: CRX is a homeobox transcription factor whose expression and function is critical to maintain retinal and pineal lineage cells and their progenitors. To determine the biologic and diagnostic potential of CRX in ...
    • DNA Fragmentation Simulation Method (FSM) and Fragment Size Matching Improve aCGH Performance of FFPE Tissues 

      Craig, Justin M.; Vena, Natalie; Idbaih, Ahmed; Fouse, Shaun D.; Ozek, Memet; Sav, Aydin; Margraf, Linda R.; Eberhart, Charles G.; Norden, Andrew D.; Ramkissoon, Shakti; Hill, D. Ashley; Kieran, Mark W.; Wen, Patrick Yung Chih; Loda, Massimo; Santagata, Sandro; Ligon, Keith Lloyd; Ligon, Azra Hadi (Public Library of Science, 2012)
      Whole-genome copy number analysis platforms, such as array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) arrays, are transformative research discovery tools. In cancer, the identification ...
    • Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations 

      Brastianos, Priscilla K.; Horowitz, Peleg M.; Santagata, Sandro; Jones, Robert T.; McKenna, Aaron; Getz, Gad; Ligon, Keith L.; Palescandolo, Emanuele; Van Hummelen, Paul; Ducar, Matthew D.; Raza, Alina; Sunkavalli, Ashwini; MacConaill, Laura E.; Stemmer-Rachamimov, Anat O.; Louis, David N.; Hahn, William C.; Dunn, Ian F.; Beroukhim, Rameen (2013)
      Meningiomas are the most common primary nervous system tumor. The tumor suppressor NF2 is disrupted in approximately half of meningiomas1 but the complete spectrum of genetic changes remains undefined. We performed ...
    • Increased expression of the immune modulatory molecule PD-L1 (CD274) in anaplastic meningioma 

      Du, Ziming; Abedalthagafi, Malak; Aizer, Ayal A.; McHenry, Allison R.; Sun, Heather H.; Bray, Mark-Anthony; Viramontes, Omar; Machaidze, Revaz; Brastianos, Priscilla K.; Reardon, David A.; Dunn, Ian F.; Freeman, Gordon J.; Ligon, Keith L.; Carpenter, Anne E.; Alexander, Brian M.; Agar, Nathalie Y.; Rodig, Scott J.; Bradshaw, Elizabeth M.; Santagata, Sandro (Impact Journals LLC, 2015)
      There are no effective medical treatments for WHO grade III (anaplastic) meningioma. Patients with this high-grade malignancy have a median survival of less than two years. Therapeutics that modulate the mechanisms that ...
    • Molecular imaging of drug transit through the blood-brain barrier with MALDI mass spectrometry imaging 

      Liu, Xiaohui; Ide, Jennifer L.; Norton, Isaiah; Marchionni, Mark A.; Ebling, Maritza C.; Wang, Lan Y.; Davis, Erin; Sauvageot, Claire M.; Kesari, Santosh; Kellersberger, Katherine A.; Easterling, Michael L.; Santagata, Sandro; Stuart, Darrin D.; Alberta, John; Agar, Jeffrey N.; Stiles, Charles D.; Agar, Nathalie Y. R. (Nature Publishing Group, 2013)
      Drug transit through the blood-brain barrier (BBB) is essential for therapeutic responses in malignant glioma. Conventional methods for assessment of BBB penetrance require synthesis of isotopically labeled drug derivatives. ...
    • MYB-QKI rearrangements in Angiocentric Glioma drive tumorigenicity through a tripartite mechanism 

      Bandopadhayay, Pratiti; Ramkissoon, Lori A.; Jain, Payal; Bergthold, Guillaume; Wala, Jeremiah; Zeid, Rhamy; Schumacher, Steven E.; Urbanski, Laura; O’Rourke, Ryan; Gibson, William J.; Pelton, Kristine; Ramkissoon, Shakti H.; Han, Harry J.; Zhu, Yuankun; Choudhari, Namrata; Silva, Amanda; Boucher, Katie; Henn, Rosemary E.; Kang, Yun Jee; Knoff, David; Paolella, Brenton R.; Gladden-Young, Adrianne; Varlet, Pascale; Pages, Melanie; Horowitz, Peleg M.; Federation, Alexander; Malkin, Hayley; Tracy, Adam; Seepo, Sara; Ducar, Matthew; Hummelen, Paul Van; Santi, Mariarita; Buccoliero, Anna Maria; Scagnet, Mirko; Bowers, Daniel C.; Giannini, Caterina; Puget, Stephanie; Hawkins, Cynthia; Tabori, Uri; Klekner, Almos; Bognar, Laszlo; Burger, Peter C.; Eberhart, Charles; Rodriguez, Fausto J.; Hill, D. Ashley; Mueller, Sabine; Haas-Kogan, Daphne A.; Phillips, Joanna J.; Santagata, Sandro; Stiles, Charles D.; Bradner, James E.; Jabado, Nada; Goren, Alon; Grill, Jacques; Ligon, Azra H.; Goumnerova, Liliana; Waanders, Angela J.; Storm, Phillip B.; Kieran, Mark W.; Ligon, Keith L.; Beroukhim, Rameen; Resnick, Adam C. (2016)
      Angiocentric gliomas are pediatric low-grade gliomas (PLGGs) without known recurrent genetic drivers. We performed genomic analysis of new and published data from 249 PLGGs including 19 Angiocentric Gliomas. We identified ...
    • Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples 

      Campbell, Catarina D.; Kehoe, Sarah M.; Hatton, Charles; Niu, Lili; Yao, Keluo; Hanna, Megan; Mondal, Chandrani; Luongo, Lauren; Baker, Alissa C.; Philips, Juliet; Goff, Deborah J.; Rubin, Mark A.; Corso, Gianni; Roviello, Franco; MacConaill, Laura Eleanor; Bass, Adam Joel; Davis, Matthew J; Emery, Caroline Margaret; Fiorentino, Michelangelo; Polyak, Kornelia; Chan, Jennifer Ang; Wang, Yufang; Fletcher, Jonathan A.; Santagata, Sandro; Shivdasani, Ramesh Arjun; Kieran, Mark W.; Ligon, Keith Lloyd; Stiles, Charles Dean; Hahn, William C.; Meyerson, Matthew Langer; Garraway, Levi Alexander; Jones, Chris (Public Library of Science, 2009)
      Background: Detection of critical cancer gene mutations in clinical tumor specimens may predict patient outcomes and inform treatment options; however, high-throughput mutation profiling remains underdeveloped as a diagnostic ...
    • Rapid, Label-Free Detection of Brain Tumors with Stimulated Raman Scattering Microscopy 

      Ji, Minbiao; Orringer, Daniel A.; Freudiger, Christian Wilhelm; Ramkissoon, Shakti; Liu, Xiaohui; Lau, Darryl; Golby, Alexandra Jacqueline; Norton, Isaiah Hakim; Hayashi, Marika; Agar, Nathalie Marie Yvonne Rachel; Young, Geoffrey; Spino, Cathie; Santagata, Sandro; Camelo-Piragua, Sandra; Ligon, Keith Lloyd; Sagher, Oren; Xie, Xiaoliang Sunney (American Association for the Advancement of Science (AAAS), 2013)
      Surgery is an essential component in the treatment of brain tumors. However, delineating tumor from normal brain remains a major challenge. We describe the use of stimulated Raman scattering (SRS) microscopy for ...
    • The Reprogramming of Tumor Stroma by HSF1 Is a Potent Enabler of Malignancy 

      Scherz-Shouval, Ruth; Santagata, Sandro; Mendillo, Marc L.; Sholl, Lynette Marie; Ben-Aharon, Irit; Beck, Andrew H; Dias-Santagata, Dora; Koeva, Martina; Stemmer, Salomon M.; Whitesell, Luke; Lindquist, Susan (Elsevier BV, 2014)
      Stromal cells within the tumor microenvironment are essential for tumor progression and metastasis. Surprisingly little is known about the factors that drive the transcriptional reprogramming of stromal cells within tumors. ...
    • Sporadic hemangioblastomas are characterized by cryptic VHL inactivation 

      Shankar, Ganesh Mani; Taylor-Weiner, Amaro; Lelic, Nina; Jones, Robert T; Kim, James C; Francis, Joshua M; Abedalthagafi, Malak S; Borges, Lawrence Francis; Coumans, Jean-Valery C E; Curry, William Thomas; Nahed, Brian Vala; Shin, John H; Paek, Sun Ha; Park, Sung-Hye; Stewart, Chip; Lawrence, Michael S; Cibulskis, Kristian; Thorner, Aaron R; Van Hummelen, Paul; Stemmer-Rachamimov, Anat; Batchelor, Tracy Todd; Carter, Scott Lambert; Hoang, Mai P; Santagata, Sandro; Louis, David N.; Barker, Frederick George; Meyerson, Matthew Langer; Getz, Gad A; Brastianos, Priscilla Kalliope; Cahill, Daniel P. (Springer Nature, 2014)
      Hemangioblastomas consist of 10-20% neoplastic “stromal” cells within a vascular tumor cell mass of reactive pericytes, endothelium and lymphocytes. Familial cases of central nervous system hemangioblastoma uniformly result ...
    • Taxonomy of breast cancer based on normal cell phenotype predicts outcome 

      Santagata, Sandro; Thakkar, Ankita; Ergonul, Ayse; Wang, Bin; Woo, Terri; Hu, Rong; Harrell, J. Chuck; McNamara, George; Schwede, Matthew; Culhane, Aedin; Kindelberger, David; Rodig, Scott J.; Richardson, Andrea; Schnitt, Stuart Jay; Tamimi, Rulla May; Ince, Tan A. (American Society for Clinical Investigation, 2014)
      Accurate classification is essential for understanding the pathophysiology of a disease and can inform therapeutic choices. For hematopoietic malignancies, a classification scheme based on the phenotypic similarity between ...