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Plexiform Neurofibroma

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https://www.readbyqxmd.com/read/29455242/heightened-cxcr4-and-cxcl12-expression-in-nf1-associated-neurofibromas
#1
Beren Karaosmanoglu, Çetin Y Kocaefe, Figen Söylemezoğlu, Banu Anlar, Ali Varan, İbrahim Vargel, Sükriye Ayter
BACKGROUND: Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited disorder that affects both the skin and the nervous system. NF1 occurs due to the mutations in the NF1 gene. Neurofibromas are the most common Schwann cell-based tumors in NF1 patients, which are mainly categorized into dermal and plexiform neurofibromas. Studies on different tumor types demonstrate that CXCR4 expression increases in tumor tissues and is linked to metastasis and cancer progression. PURPOSE: In the present study, we aimed to analyze the gene expression of CXCR4, and its ligand CXCL12, in human neurofibromas...
February 17, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29449010/a-brief-report-of-plexiform-neurofibroma
#2
Mahdi Khajavi Md, Shahrokh Khoshsirat Md, Lida Ahangarnazari Md, Niloofar Majdinasab Md
Plexiform neurofibroma (PNF) is a rare variant of neurofibromatosis type1 (NF-1), which histopathologically, is a subtype of benign nerve sheath tumors, neurofibromas (NF). It develops as a result of proliferation in all parts of peripheral nervous system and can cause the functional damage, deformities, pain, considerable mortality, and morbidity and even the increasing risk of malignant transformation in some critical cases. Currently, the surgical intervention is the treatment of choice for PNF patients, which due to the tumor invasion, massive growth, and the chance of postoperative regrowth is not possible...
January 10, 2018: Current Problems in Cancer
https://www.readbyqxmd.com/read/29441226/plexiform-neurofibroma-in-the-axilla-with-intraosseous-neurofibroma-in-the-humerus-in-neurofibromatosis-5
#3
Sanjay Mhalasakant Khaladkar, Surbhi Chauhan, Raghav Kalra, Shishir Chauhan
Segmental neurofibromatosis type 5 (NF5) is a rare form of NF, in which the cutaneous and/or neural changes are confined to one region of the body. It is often underdiagnosed or undetected due to the absence of symptoms. Inheritance of NF is different from other types of NF. Intraosseous neurofibromas are rare tumors which develop from nerves supplying the periosteum or nerves following the intraosseous course. Plexiform neurofibroma with associated intraosseous neurofibroma is extremely rare. We report a case of plexiform neurofibroma in the left axilla of a 17-year-old female with associated intraosseous neurofibroma in adjoining left humerus...
2018: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/29435207/supernumerary-molars-and-wisdom-tooth-shape-alterations-in-patients-with-neurofibromatosis-type-1
#4
Reinhard E Friedrich, Anika Reul
Objectives: The purpose of the present study was the systematic investigation of numerical and morphological aberrations of teeth in the wisdom teeth region in neurofibromatosis type 1 patients. Material and Methods: The panoramic radiographs of 179 patients were analysed for supernumerary molars and dysplastic wisdom teeth with special reference to facial tumour type. The results were compared to radiographic findings obtained in panoramic radiographs of age- and sex-matched controls...
October 2017: Journal of Oral & Maxillofacial Research
https://www.readbyqxmd.com/read/29427150/programmed-death-ligand-1-expression-and-tumor-infiltrating-lymphocytes-in-neurofibromatosis-type-1-and-2-associated-tumors
#5
Shiyang Wang, Benjamin Liechty, Seema Patel, Jeffrey S Weber, Travis J Hollmann, Matija Snuderl, Matthias A Karajannis
Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of cancers. Biomarker studies have found positive associations between clinical response rates and PD-L1 expression on tumor cells, as well as the presence of tumor infiltrating lymphocytes (TILs). It is currently unknown whether tumors associated with neurofibromatosis types 1 and 2 (NF1 and NF2) express PD-L1. We performed immunohistochemistry for PD-L1 (clones SP142 and E1L3N), CD3, CD20, CD8, and CD68 in NF1-related tumors (ten dermal and six plexiform neurofibromas) and NF2-related tumors (ten meningiomas and ten schwannomas) using archival formalin-fixed paraffin-embedded tissues...
February 9, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29409029/the-characteristics-of-76-atypical-neurofibromas-as-precursors-to-neurofibromatosis-1-associated-malignant-peripheral-nerve-sheath-tumors
#6
Christine S Higham, Eva Dombi, Aljosja Rogiers, Sucharita Bhaumik, Steven Pans, Steve E J Connor, Markku Miettinen, Raf Sciot, Roberto Tirabosco, Hilde Brems, Andrea Baldwin, Eric Legius, Brigitte C Widemann, Rosalie E Ferner
Background: Neurofibromatosis 1 (NF1) leads to the development of benign and malignant peripheral nerve sheath tumors (MPNST). MPNST have been described to develop in pre-existing benign plexiform neurofibromas (PN) and have a poor prognosis. Atypical neurofibromas (ANF) were recently described as precursor lesions for MPNST, making early detection and management of ANF a possible strategy to prevent MPNST. We aimed to clinically characterize ANF and identify management approaches. Methods: We analyzed clinical, imaging, and pathology findings of all patients with NF1 and ANF at three institutions...
February 2, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29382000/endovascular-management-of-renal-artery-aneurysms-induced-by-neurofibromatosis-type-1-a-case-report
#7
Bihui Zhang, Yinghua Zou, Min Yang, Guochen Niu
RATIONALE: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by cafe au lait macules and neurofibromatosis. Renal artery aneurysms are relatively uncommon. Endovascular techniques are effective in treating renal aneurysms but successful cases are rarely reported in NF-1 adults. PATIENT CONCERNS: The patient was one 23-year-old female presented with hypertension, multiple café-au-lait spots ≥15 mm, and plexiform neurofibroma. Renal artery aneurysms were found by ultrasound...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29356283/intrahepatic-plexiform-neurofibroma-with-neurofibromatosis-type-1
#8
Yoshiki Kusama, Yo Matsui
No abstract text is available yet for this article.
January 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29351992/involvement-of-aryl-hydrocarbon-receptor-in-myelination-and-in-human-nerve-sheath-tumorigenesis
#9
Ghjuvan'Ghjacumu Shackleford, Nirmal Kumar Sampathkumar, Mehdi Hichor, Laure Weill, Delphine Meffre, Ludmila Juricek, Ingrid Laurendeau, Aline Chevallier, Nicolas Ortonne, Frédérique Larousserie, Marc Herbin, Ivan Bièche, Xavier Coumoul, Mathieu Beraneck, Etienne-Emile Baulieu, Frédéric Charbonnier, Eric Pasmant, Charbel Massaad
Aryl hydrocarbon receptor (AHR) is a ligand-activated transcription factor involved in xenobiotic metabolism. Plexiform neurofibromas (PNFs) can transform into malignant peripheral nerve sheath tumors (MPNSTs) that are resistant to existing therapies. These tumors are primarily composed of Schwann cells. In addition to neurofibromatosis type 1 (NF1) gene inactivation, further genetic lesions are required for malignant transformation. We have quantified the mRNA expression levels of AHR and its associated genes in 38 human samples...
January 19, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29290338/genotype-phenotype-correlation-in-nf1-evidence-for-a-more-severe-phenotype-associated-with-missense-mutations-affecting-nf1-codons-844-848
#10
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett, Troy A Becker, Shay Ben-Shachar, Debora R Bertola, Jaishri O Blakeley, Emma M M Burkitt-Wright, Alison Callaway, Melissa Crenshaw, Karin S Cunha, Mitch Cunningham, Maria D D'Agostino, Karin Dahan, Alessandro De Luca, Anne Destrée, Radhika Dhamija, Marica Eoli, D Gareth R Evans, Patricia Galvin-Parton, Jaya K George-Abraham, Karen W Gripp, Jose Guevara-Campos, Neil A Hanchard, Concepcion Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi J Jones, Beth A Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy Mendelsohn, David T Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R Plotkin, Dinel Pond, Kenneth Rosenbaum, Karol Rubin, Laura Russell, Lane S Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W Stockton, Eva Trevisson, Nicole J Ullrich, Meena Upadhyaya, Rick van Minkelen, Helene Verhelst, Margaret R Wallace, Yoon-Sim Yap, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martin, Bruce R Korf, Eric Legius, Ludwine M Messiaen
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons-Leu844, Cys845, Ala846, Leu847, and Gly848-located in the cysteine-serine-rich domain (CSRD)...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29288991/nerve-ultrasound-in-neurofibromatosis-type-1-a-follow-up-study
#11
Johan A Telleman, Menno D Stellingwerff, Geert J Brekelmans, Leo H Visser
OBJECTIVE: To investigate development of sonographic abnormalities and applications of high-resolution ultrasonography (HRUS) in neurofibromatosis type 1 (NF1). METHODS: Sixteen asymptomatic or minimally symptomatic NF1 patients underwent HRUS at inclusion and 1 year follow-up. Upper and lower extremity nerves were investigated. Peripheral nerve involvement was graded. RESULTS: Plexiform neurofibromas (PNFs) were found in 7 patients (43...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29248317/volumetric-mri-in-neurofibromatosis-type-1-nf1-comes-of-age-to-help-determine-initiation-and-monitoring-of-targeted-therapies-for-plexiform-neurofibromas
#12
EDITORIAL
David Viskochil, Luke L Linscott
No abstract text is available yet for this article.
December 13, 2017: Academic Radiology
https://www.readbyqxmd.com/read/29246097/neurofibromatosis-clinical-trial-consortium
#13
Roger J Packer, Michael J Fisher, Gary Cutter, Karen Cole-Plourde, Bruce R Korf
Neurofibromatosis type 1 and type 2, affecting both children and adults, often results in devastating complications. The rapid unravelling of the genetic underpinnings of these unique disorders has led to the development of novel therapies, especially molecular-targeted therapies. To facilitate clinical trial development, the Neurofibromatosis Clinical Trial Consortium (NFCTC) was established in 2006 by the Department of Defense. Over the past decade, the Consortium has successfully completed studies for children and adults with neurofibromatosis type 1 and plexiform neurofibromas, neurocognitive challenges, low-grade gliomas, and malignant peripheral nerve sheath tumors...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29214122/peripheral-nerve-sheath-tumors-of-the-upper-extremity-and-hand-in-patients-with-neurofibromatosis-type-1-topography-of-tumors-and-evaluation-of-surgical-treatment-in-62-patients
#14
Reinhard E Friedrich, Caroline Diekmeier
Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome with a tendency to develop peripheral nerve sheath tumors (PNST). Plexiform neurofibromas (PNF) are detected in a high proportion of affected patients. The tumors can lead to severe disfigurement and are classified as precancerous. This study examines the surgical procedures that have been performed on large PNST of the upper limb and hand, and investigates whether a specific distribution pattern of the tumors can be detected in surgically treated cases...
2017: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://www.readbyqxmd.com/read/29179472/bcrp-expression-in-schwannoma-plexiform-neurofibroma-and-mpnst
#15
Maurits de Vries, Olaf van Tellingen, Andel G L van der Mey, Antonius M G Bunt, Inge Briaire-de Bruijn, Pancras C W Hogendoorn
Background: peripheral nerve sheath tumors comprise a broad spectrum of neoplasms. Vestibular schwannomas and plexiform neurofibromas are symptomatic albeit benign, but a subset of the latter pre-malignant lesions will transform to malignant peripheral nerve sheath tumors (MPNST). Surgery and radiotherapy are the primary strategies to treat these tumors. Intrinsic resistance to drug therapy characterizes all three tumor subtypes. The breast cancer resistance protein BCRP is a transmembrane efflux transporter considered to play a key role in various biological barriers such as the blood brain barrier...
October 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/29177153/poliosis-and-neurofibromatosis-type-1-two-familiar-cases-and-review-of-the-literature
#16
Iria Neri, Giulia Liberati, Bianca Maria Piraccini, Annalisa Patrizi
Two brothers were referred to our clinic for reevaluation of neurofibromatosis type 1 (NF1). Both brothers presented a peculiarity that is not so common in NF1: poliosis overlying plexiform neurofibromas on the scalp. Poliosis overlying plexiform neurofibromas is rarely reported in the literature. The peculiarity of our cases is the familiarity and the presence of poliosis in the same location.
October 2017: Skin Appendage Disorders
https://www.readbyqxmd.com/read/29162506/expression-of-the-braf-l597q-mutation-in-sporadic-neurofibromas-of-the-upper-extremity
#17
Ashkaun Shaterian, Daniela Bota, Amber Leis
The pathogenesis of neurofibromas is poorly understood outside of neurofibromatosis (NF). The BRAF proto-oncogene has been implicated in malignant peripheral nerve sheath tumors (PNSTs), however its role in neurofibromas has not been described. In this study, we identify a BRAF mutation in a 61-year old non-NF patient with a history of sporadic and recurrent neurofibromas localized to the right upper extremity. Despite repeat resections to establish local control, he developed median nerve neuropathy secondary to a 13×4cm plexiform neurofibroma...
November 18, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29142769/plexiform-neurofibroma-of-clitoris
#18
Dhanya Yesodharan, Bindu Sudarsanan, Annie Jojo, Mohan Abraham, Nisha Bhavani, Hima Mathews, Sheela Nampoothiri
The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Though rare, plexiform neurofibroma of clitoris should always be considered as a differential diagnosis in children with clitoromegaly before embarking on detailed investigations.
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29137242/immune-profiling-of-nf1-associated-tumors-reveals-histologic-subtype-distinctions-and-heterogeneity-implications-for-immunotherapy
#19
Kellie B Haworth, Michael A Arnold, Christopher R Pierson, Kwangmin Choi, Nicholas D Yeager, Nancy Ratner, Ryan D Roberts, Jonathan L Finlay, Timothy P Cripe
Successful treatment of neurofibromatosis type 1 (NF1)-associated tumors poses a significant clinical challenge. While the primary underlying genetic defect driving RAS signaling is well described, recent evidence suggests immune dysfunction contributes to tumor pathogenesis and malignant transformation. As immunologic characterizations, prognostic and predictive of immunotherapeutic clinical response in other cancers, are not fully described for benign and malignant NF1-related tumors, we sought to define their immunologic profiles...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29117388/neurofibromatosis-type-1-associated-mpnst-state-of-the-science-outlining-a-research-agenda-for-the-future
#20
REVIEW
Karlyne M Reilly, AeRang Kim, Jaishri Blakely, Rosalie E Ferner, David H Gutmann, Eric Legius, Markku M Miettinen, R Lor Randall, Nancy Ratner, N L Jumbé, Annette Bakker, David Viskochil, Brigitte C Widemann, Douglas R Stewart
Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma for which the only effective therapy is surgery. In 2016, an international meeting entitled "MPNST State of the Science: Outlining a Research Agenda for the Future" was convened to establish short- and long-term research priorities. Key recommendations included the: 1) development of standardized, cost-efficient fluorodeoxyglucose positron emission tomography and whole-body magnetic resonance imaging guidelines to evaluate masses concerning for MPNST; 2) development of better understanding and histologic criteria for the transformation of a plexiform neurofibroma to MPNST; 3) establishment of a centralized database to collect genetic, genomic, histologic, immunohistochemical, molecular, radiographic, treatment, and related clinical data from MPNST subspecialty centers in a standardized manner; 4) creation of accurate mouse models to study the plexiform neurofibroma-to-MPNST transition, MPNST metastasis, and drug resistance; 5) use of trial designs that minimize regulatory requirements, maximize availability to patients, consider novel secondary end points, and study patients with newly diagnosed disease...
August 1, 2017: Journal of the National Cancer Institute
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