Now showing items 1-20 of 24

    • Bevacizumab Treatment for Meningiomas in NF2: A Retrospective Analysis of 15 Patients 

      Nunes, Fabio; Merker, Vanessa L.; Jennings, Dominique; Caruso, Paul Albert; di Tomaso, Emmanuelle; Muzikansky, Alona; Barker, Frederick George; Stemmer-Rachamimov, Anat; Plotkin, Scott Randall (Public Library of Science (PLoS), 2013)
      Bevacizumab treatment can result in tumor shrinkage of progressive vestibular schwannomas in some neurofibromatosis 2 (NF2) patients but its effect on meningiomas has not been defined. To determine the clinical activity ...
    • Characterization of cells from patient-derived fibrovascular membranes in proliferative diabetic retinopathy 

      Kim, Leo A.; Wong, Lindsay L.; Amarnani, Dhanesh S.; Bigger-Allen, Alexander A.; Hu, Yang; Marko, Christina K.; Eliott, Dean; Shah, Vinay A.; McGuone, Declan; Stemmer-Rachamimov, Anat O.; Gai, Xiaowu; D’Amore, Patricia A.; Arboleda-Velasquez, Joseph F. (Molecular Vision, 2015)
      Purpose Epiretinal fibrovascular membranes (FVMs) are a hallmark of proliferative diabetic retinopathy (PDR). Surgical removal of FVMs is often indicated to treat tractional retinal detachment. This potentially informative ...
    • Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients 

      Merker, Vanessa; Esparza, S.; Smith, M. J.; Stemmer-Rachamimov, Anat; Plotkin, Scott Randall (Alphamed Press, 2012)
      Background. Schwannomatosis is a recently recognized form of neurofibromatosis characterized by multiple noncutaneous schwannomas, a histologically benign nerve sheath tumor. As more cases are identified, the reported ...
    • Current status and recommendations for biomarkers and biobanking in neurofibromatosis 

      Hanemann, C. Oliver; Blakeley, Jaishri O.; Nunes, Fabio; Robertson, Kent; Stemmer-Rachamimov, Anat; Mautner, Victor; Kurtz, Andreas; Ferguson, Michael Andrew; Widemann, Brigitte C.; Evans, D. Gareth; Ferner, Rosalie; Carroll, Steven L.; Korf, Bruce; Wolkenstein, Pierre; Knight, Pamela; Plotkin, Scott Randall (Ovid Technologies (Wolters Kluwer Health), 2016)
      Objective: Clinically validated biomarkers for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis (SWN) have not been identified to date. The biomarker working group’s goals are to (1) define ...
    • Decreased Vision and Junctional Scotoma from Pituicytoma 

      Huynh, Nancy; Stemmer-Rachamimov, Anat; Swearingen, Brooke; Cestari, Dean Michael (S. Karger AG, 2012)
      Pituicytomas are rare neoplasms of the sellar region. We report a case of vision loss and a junctional scotoma in a 43-year-old woman caused by compression of the optic chiasm by a pituitary tumor. The morphological and ...
    • Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas 

      Engler, David A; Roy, Jennifer; Shen, Yiping; Nunes, Fabio Pereira; Stemmer-Rachamimov, Anat; James, Marianne F.; Mohapatra, Gayatry; Plotkin, Scott Randall; Betensky, Rebecca Aubrey; Ramesh, Vijaya; Gusella, James Francis (BioMed Central, 2009)
      Background: Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with ...
    • 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 ...
    • Hearing Improvement after Bevacizumab in Patients with Neurofibromatosis Type 2 

      Plotkin, Scott Randall; Stemmer-Rachamimov, Anat; Barker, Frederick George; Halpin, Chris; Padera, Timothy P.; Tyrrell, Alex; Sorensen, A; Jain, Rakesh K.; di Tomaso, Emmanuelle (New England Journal of Medicine (NEJM/MMS), 2009)
      Background Profound hearing loss is a serious complication of neurofibromatosis type 2, a genetic condition associated with bilateral vestibular schwannomas, benign tumors that arise from the eighth cranial nerve. There ...
    • A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas 

      Beauchamp, Roberta L.; James, Marianne; DeSouza, Patrick A.; Wagh, Vilas; Zhao, Wen-Ning; Jordan, Justin Thomas; Stemmer-Rachamimov, Anat; Plotkin, Scott Randall; Gusella, James Francis; Haggarty, Stephen John; Ramesh, Vijaya (Impact Journals, LLC, 2015)
      Meningiomas are the most common primary intracranial adult tumor. All Neurofibromatosis 2 (NF2)-associated meningiomas and ~60% of sporadic meningiomas show loss of NF2 tumor suppressor protein. There are no effective ...
    • IgG4-Related Disease and Hypertrophic Pachymeningitis 

      Wallace, Zachary S.; Carruthers, Mollie N.; Khosroshahi, Arezou; Carruthers, Robert; Shinagare, Shweta; Stemmer-Rachamimov, Anat; Deshpande, Vikram; Stone, John H. (Wolters Kluwer Health, 2013)
      Abstract Hypertrophic pachymeningitis (HP) is an inflammatory condition in which the dura mater of the cranium or spine becomes thickened, leading to symptoms that result from mass effect, nerve compression, or vascular ...
    • Insulator dysfunction and oncogene activation in IDH mutant gliomas 

      Flavahan, William A.; Drier, Yotam; Liau, Brian B.; Gillespie, Shawn M.; Venteicher, Andrew S.; Stemmer-Rachamimov, Anat O.; Suvà, Mario L.; Bernstein, Bradley E. (2015)
      Gain-of-function IDH mutations are initiating events that define major clinical and prognostic classes of gliomas1,2. Mutant IDH protein produces a novel onco-metabolite, 2-hydroxyglutarate (2-HG), that interferes with ...
    • Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene 

      Miller, Shyra J; Jessen, Walter J; Mehta, Tapan; Hardiman, Atira; Sites, Emily; Kaiser, Sergio; Jegga, Anil G; Upadhyaya, Meena; Giovannini, Marco; Wallace, Margaret R; Lopez, Eva; Serra, Eduard; Lazaro, Conxi; Page, Grier; Aronow, Bruce J; Ratner, Nancy; Li, Hua; Muir, David; Nielsen, Gunnlaugur Petur; Stemmer-Rachamimov, Anat (WILEY-VCH Verlag, 2009)
      Understanding the biological pathways critical for common neurofibromatosis type 1 (NF1) peripheral nerve tumours is essential, as there is a lack of tumour biomarkers, prognostic factors and therapeutics. We used gene ...
    • Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth 

      James, Marianne; Lelke, Johanna M.; MacCollin, Mia; Plotkin, Scott Randall; Stemmer-Rachamimov, Anat; Ramesh, Vijaya; Gusella, James Francis (Elsevier BV, 2008)
      Meningiomas, common tumors arising from arachnoidal cells of the meninges, may occur sporadically, or in association with the inherited disorder, neurofibromatosis 2 (NF2). Most sporadic meningiomas result from NF2 ...
    • Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2 

      Stivaros, Stavros M; Stemmer-Rachamimov, Anat O; Alston, Robert; Plotkin, Scott R; Nadol, Joseph B; Quesnel, Alicia; O'Malley, Jennifer; Whitfield, Gillian A; McCabe, Martin G; Freeman, Simon R; Lloyd, Simon K; Wright, Neville B; Kilday, John-Paul; Kamaly-Asl, Ian D; Mills, Samantha J; Rutherford, Scott A; King, Andrew T; Evans, D Gareth (BMJ Publishing Group, 2015)
      Background: Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour syndrome with a phenotype which includes bilateral vestibular (eighth cranial nerve) schwannomas. Conventional thinking suggests that these tumours ...
    • Natural History of Meningioma Development in Mice Reveals: A Synergy of Nf2 and p16Ink4a Mutations 

      Kalamarides, Michel; Stemmer-Rachamimov, Anat; Takahashi, Masaya; Han, Zhi-Yan; Chareyre, Fabrice; Niwa-Kawakita, Michiko; Black, Peter McLaren; Carroll, Rona Stephanie; Giovannini, Marco (Blackwell Publishing Ltd, 2008)
      Meningiomas account for approximately 30% of all primary central nervous system tumors and are found in half of neurofibromatosis type 2 patients often causing significant morbidity. Although most meningiomas are benign, ...
    • Neurofibromatosis 2011: A Report of the Children’s Tumor Foundation Annual Meeting 

      Kalamarides, Michel; Acosta, Maria T.; Babovic-Vuksanovic, Dusica; Carpen, Olli; Gareth Evans, D.; Giancotti, Filippo; Oliver Hanemann, C.; Ingram, David; Lloyd, Alison C.; Mayes, Debra A.; Messiaen, Ludwine; Morrison, Helen; North, Kathryn; Packer, Roger; Pan, Duojia; Upadhyaya, Meena; Viskochil, David; Wallace, Margret R.; Hunter-Schaedle, Kim; Ratner, Nancy; Cichowski, Karen Marie; Stemmer-Rachamimov, Anat (Springer-Verlag, 2012)
      The 2011 annual meeting of the Children’s Tumor Foundation, the annual gathering of the neurofibromatosis (NF) research and clinical communities, was attended by 330 participants who discussed integration of new signaling ...
    • Nf1 Loss and Ras Hyperactivation in Oligodendrocytes Induce NOS-Driven Defects in Myelin and Vasculature 

      Mayes, Debra A.; Rizvi, Tilat A.; Titus-Mitchell, Haley; Oberst, Rachel; Ciraolo, Georgianne M.; Vorhees, Charles V.; Robinson, Andrew P.; Miller, Stephen D.; Cancelas, Jose A.; Stemmer-Rachamimov, Anat O.; Ratner, Nancy (2013)
      SUMMARY Patients with neurofibromatosis type 1 (NF1) and Costello syndrome Rasopathy have behavioral deficits. In NF1 patients, these may correlate with white matter enlargement and aberrant myelin. To model these features, ...
    • NF2/Merlin Is a Novel Negative Regulator of mTOR Complex 1, and Activation of mTORC1 Is Associated with Meningioma and Schwannoma Growth 

      James, Marianne; Han, S; Polizzano, Carolyn; Plotkin, Scott Randall; Manning, Brendan D.; Stemmer-Rachamimov, Anat; Gusella, James Francis; Ramesh, Vijaya (American Society for Microbiology, 2009)
      Inactivating mutations of the neurofibromatosis 2 (NF2) gene, NF2, result predominantly in benign neurological tumors, schwannomas and meningiomas, in humans; however, mutations in murine Nf2 lead to a broad spectrum of ...
    • Rapid Intraoperative Molecular Characterization of Glioma 

      Shankar, Ganesh Mani; Francis, Joshua M.; Rinne, Mikael Lee; Ramkissoon, Shakti; Huang, Franklin W; Venteicher, Andrew S; Akama-Garren, Elliot H.; Kang, Yun Jee; Lelic, Nina; Kim, James C.; Brown, Loreal E.; Charbonneau, Sarah K; Golby, Alexandra Jacqueline; Sekhar Pedamallu, Chandra; Hoang, Mai P; Sullivan, Ryan Joseph; Cherniack, Andrew D.; Garraway, Levi Alexander; Stemmer-Rachamimov, Anat; Reardon, David Allen; Wen, Patrick Yung Chih; Brastianos, Priscilla Kalliope; Curry, William Thomas; Barker, Frederick George; Hahn, William Chun; Nahed, Brian Vala; Ligon, Keith Lloyd; Louis, David N.; Cahill, Daniel P.; Meyerson, Matthew Langer (American Medical Association (AMA), 2015)
      IMPORTANCE: Conclusive intraoperative pathologic confirmation of diffuse infiltrative glioma guides the decision to pursue definitive neurosurgical resection. Establishing the intraoperative diagnosis by histologic analysis ...
    • 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 ...