Results 41 to 50 of about 31,395 (237)

Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene [PDF]

, 2013
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.
Aronow, Bruce J, Giovannini, Marco, Hardiman, Atira, Jegga, Anil G, Jessen, Walter J, Kaiser, Sergio, Lazaro, Conxi, Li, Hua, Lopez, Eva, Mehta, Tapan, Miller, Shyra J, Muir, David, Nielsen, Gunnlaugur Petur, Page, Grier, Ratner, Nancy, Serra, Eduard, Sites, Emily, Stemmer-Rachamimov, Anat, Upadhyaya, Meena, Wallace, Margaret R   +19 more
core   +1 more source

Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas.

Cell Reports, 2022
Plexiform neurofibromas (pNFs) are developmental tumors that appear in neurofibromatosis type 1 individuals, constituting a major source of morbidity and potentially transforming into a highly metastatic sarcoma (MPNST). pNFs arise after NF1 inactivation
Helena Mazuelas, Míriam Magallón-Lorenz, J. Fernández-Rodríguez, Itziar Uriarte-Arrazola, Y. Richaud-Patin, Ernest Terribas, A. Villanueva, E. Castellanos, I. Blanco, Á. Raya, Jakub Chojnacki, H. Heyn, C. Romagosa, C. Lázaro, Bernat Gel, M. Carrió, E. Serra   +16 more
semanticscholar   +1 more source

ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma. [PDF]

J Clin Oncol
PURPOSE Pharmacologic therapies for neurofibromatosis type 1-associated plexiform neurofibromas (NF1-PNs) are limited; currently, none are US Food and Drug Administration–approved for adults.
Moertel CL, Hirbe AC, Shuhaiber HH, Bielamowicz K, Sidhu A, Viskochil D, Weber MD, Lokku A, Smith LM, Foreman NK, Hajjar FM, McNall-Knapp RY, Weintraub L, Antony R, Franson AT, Meade J, Schiff D, Walbert T, Ambady P, Bota DA, Campen CJ, Kaur G, Klesse LJ, Maraka S, Moots PL, Nevel K, Bornhorst M, Aguilar-Bonilla A, Chagnon S, Dalvi N, Gupta P, Khatib Z, Metrock LK, Nghiemphu PL, Roberts RD, Robison NJ, Sadighi Z, Stapleton S, Babovic-Vuksanovic D, Gershon TR, ReNeu Trial Investigators, ReNeu Study Investigators.   +41 more
europepmc   +2 more sources

Hypervascular neurofibromas in a case of neurofibromatosis type 1: a case report [PDF]

, 2011
Neurofibromatosis type 1 is one of the most frequently inherited diseases affecting 1:3500 newborn. The diagnosis of Neurofibromatosis type 1 is not dilemmatic because of typical clinical features.
Gogineni, Subhas Babu, Kashyap, Roopashri Rajesh   +1 more
core   +1 more source

Retroperitoneal Malignant Peripheral Nerve Sheath Tumour: A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
Malignant nerve sheath tumours (MPNST) are rare neoplasias and retroperitoneal cases are fairly rare and clinically difficult to be detected, but they are very agressive neoplasias. MPNST are frequently seen in head, neck and upper extremities.
Ayse Nur Deger, Mehmet Akif Bayar, Muzaffer Caydere, Hakki Deger, Mahir Tayfur   +4 more
doaj   +1 more source

Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report [PDF]

, 2016
Elephantiasis neuromatosa (EN) can arise from a plexiform neurofibroma of the superficial and deep nerves developing from a hyperproliferation of the perineural connective tissue infiltrating adjacent fat and muscles.
Dealis, Cristina, Loschi, Pietro, Mandel, Victor Desmond, Martorana, Davide, Pecchi, Annarita, Pellacani, Giovanni, Pollio, Annamaria, Ponti, Giovanni, Seidenari, Stefania, Tomasi, Aldo   +9 more
core   +1 more source

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]

, 2018
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F, Coutts, Alexander W, Dahiya, Sonika, Dombi, Eva, Fahrenkrug, Scott C, Fisher, James, Giovannini, Marco, Gutmann, David H, Isakson, Sara H, Kirstein, Mark N, Largaespada, David A, Messiaen, Ludwine, Moertel, Christopher L, Pluhar, G Elizabeth, Ratner, Nancy, Rizvi, Tilat, Rizzardi, Anthony E, Stemmer-Rachamimov, Anat O, Vitte, Jeremie, Watson, Adrienne L, Widemann, Brigitte C, Williams, Kyle B   +21 more
core   +2 more sources

Voluminous Plexiform Neurofibroma of the Foot in a Newborn - A Case Report Orthopedic-Traumatology Surgery Department - Batna Hospital Laboratory of Acquired and Constitutional Genetic Diseases (MAGECA) Faculty of Medicine -Batna 2 University

Foot & Ankle Surgery: Techniques, Reports & Cases, 2022
Neurofibromas are the cardinal dermatological signs of neurofibromatosis type I or Von Recklinghausen disease; also, they are benign tumors of the nerve sheaths.
Prof. Nacer Khernane, Prof. Hachani Khadraoui, Dr. Sofiane Fortas, Dr. Abir Chamia, Prof. Chaouki Derdous   +4 more
doaj   +1 more source

TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death [PDF]

, 2019
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise most commonly in the setting of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome.
Bu, Xianzhang, Godec, Abigail, Hirbe, Angela C, Qin, Wenjing, Shao, Jieya, Tao, Yu, Zhang, Xiaochun, Zhu, Cuige   +7 more
core   +2 more sources

Plexiform neurofibroma of the submandibular gland in patient with von Recklinghausen's disease

Rare Tumors, 2011
Plexiform neurofibroma of the submandibular gland is an extremely rare tumor. Herein, we report a case of plexiform neurofibroma in a patient with a von Recklinghausen's disease (NF-1) who presented with a submandibular mass mimicking a submandibular ...
Hassan Al Bisher, Ravi Kant, Ahmed Aldamati, Aysha Ahmed Badar   +3 more
doaj   +1 more source