Results 61 to 70 of about 31,395 (237)

Malignant transformation in a sciatic plexiform neurofibroma in Neurofibromatosis Type 1 - imaging features that aid diagnosis.

Journal of Radiology Case Reports, 2020
A 41-year-old Asian male with NF1 and bilateral sciatic plexiform neurofibromas, presented with unintentional weight loss, increasing size of a left thigh mass associated with increasing pain and radiculopathy.
D. Chew, Dan Zhao, K. Sittampalam, S. Kumar   +3 more
semanticscholar   +1 more source

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis [PDF]

, 2010
Background Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant ...
German Melean, Alba Marina Hernández, María Carmen Valero, Elisabete Hernández-Imaz, Yolanda Martín, Concepción Hernández-Chico   +5 more
core   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Characterizing the immune microenvironment of malignant peripheral nerve sheath tumor by PD-L1 expression and presence of CD8+ tumor infiltrating lymphocytes. [PDF]

, 2016
BackgroundMalignant peripheral nerve sheath tumor (MPNST) is an aggressive sarcoma with few treatment options. Tumor immune state has not been characterized in MPNST, and is important in determining response to immune checkpoint blockade.
Bernthal, Nicholas, Chmielowski, Bartosz, Crompton, Joseph G, Dry, Sarah, Eilber, Fritz C, Federman, Noah, Jensen, Sarah, Li, Yunfeng, Nelson, Scott, Shurell, Elizabeth, Singh, Arun S, Tumeh, Paul   +11 more
core   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

A case of portal hypertension by presumed as plexiform neurofibroma at the hepatic hilum [PDF]

Clinical and Molecular Hepatology, 2016
Neurofibromas can occur anywhere in the body, but they usually involve the head, neck, pelvis, and extremities. Abdominal visceral involvement is rare, and intrahepatic involvement is even less common.
Kyung Han Lee, Sun Hong Yoo, Gi Tark Noh, Won Suk Heo, Byung Seong Ko, Jung Ah Chio, Hyo Jin Cho, Jin Young Choi, Hee Jun Kim, Won Sohn, Sang Jong Park, Young Min Park   +11 more
doaj   +1 more source

The Plexiform Neurofibroma Microenvironment [PDF]

Cancer Microenvironment, 2012
Dynamic interactions between tumorigenic cells and surrounding cells, including immunomodulatory hematopoietic cells, can dictate tumor initiation, progression, and transformation. Hematopoietic-stromal interactions underpin the plexiform neurofibroma, a debilitating tumor arising in individuals afflicted with Neurofibromatosis type 1 (NF1), a common ...
Feng-Chun, Yang, Karl, Staser, D Wade, Clapp   +2 more
openaire   +2 more sources

Neurofibroma plexiforme en mucosa yugal: presentación de un caso clínico [PDF]

, 2004
Presentamos un caso clínico de neurofibroma plexiforme localizado en región geniana, a nivel submucoso. Su interés radica en que, a pesar de ser el tumor de origen neurógeno más frecuente, es una entidad poco habitual y que rara vez se localiza a nivel ...
Fernández-Alba Luengo, Javier, Gómez Oliveira, G., López-Cedrún Cembranos, José Luis, Martín Sastre, Roberto Javier, Patiño Seijas, Beatriz   +4 more
core   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Plexiform Neurofibroma Involving the Lacrimal Gland

Case Reports in Ophthalmology, 2017
Background: To present a rare case of a 2-year-old girl with neurofibromatosis type 1 (NF1) who presented with ptosis of the right upper eyelid along with a tumor in the eyelid.
Mikael Hofsli, Nico Gampenrieder, Steffen Heegaard   +2 more
doaj   +1 more source