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Plexiform Neurofibroma

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/29104109/aberrant-expression-of-thyroid-transcription-factor-1-in-schwannomas
#8
Dai-Zhong Wang, Ping Liu, Li Yao, Ying-Hua Hao, Rui-Juan Zhu, Tao Zhang, Xian-Bin Tang
Aberrant expression of thyroid transcription factor-1 (TTF-1) has been observed in tumors arising in locations other than thyroid gland, lung and ventral forebrain. However, TTF-1 expression in schwannomas has not yet been studied. Meanwhile, a few inconsistent changes in protein expression have been identified between schwannomas and other peripheral nerve sheath tumors. We evaluated TTF-1 expression in 161 schwannomas and 43 other peripheral nervous system lesions, including ganglioneuromas (n=8), malignant peripheral nerve sheath tumors (MPNSTs) (n=11), neurofibromas (n=24), and traumatic neuromas (n=9), using immunohistochemistry and verified it using quantitative real-time reverse transcription polymerase chain reaction (qPCR) to explore TTF-1 expression in peripheral nervous system lesions...
November 2, 2017: Human Pathology
https://www.readbyqxmd.com/read/29098729/clinical-severity-in-japanese-patients-with-neurofibromatosis-1-based-on-dnb-classification
#9
Yuko Ehara, Osamu Yamamoto, Kenjiro Kosaki, Yuichi Yoshida
Neurofibromatosis 1 (NF1) is a genetic disease characterized by cutaneous, neurological and osseous complications. Although clinical manifestations of NF1 are variable, there has been no report on evaluation of severity in patients with NF1. To elucidate the grade of severity of NF1, a retrospective study was conducted in 124 NF1 patients at the Department of Dermatology of Tottori University Hospital in 2007-2016. The DNB classification (dermatological, neurological and bone manifestations) in Japan was used for assessment...
November 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29097016/volumetric-mri-analysis-of-plexiform-neurofibromas-in-neurofibromatosis-type-1-comparison-of-two-methods
#10
Wenli Cai, Seth M Steinberg, Miriam A Bredella, Gina Basinsky, Bhanusupriya Somarouthu, Scott R Plotkin, Jeffrey Solomon, Brigitte C Widemann, Gordon J Harris, Eva Dombi
OBJECTIVES: Plexiform neurofibromas (PNs) are complex, histologically benign peripheral nerve sheath tumors that are challenging to measure by simple line measurements. Computer-aided volumetric segmentation of PN has become the recommended method to assess response in clinical trials directed at PN. Different methods for volumetric analysis of PN have been developed. The goal of this study is to test the level of agreement in volume measurements and in interval changes using two separate methods of volumetric magnetic resonance imaging analysis...
October 30, 2017: Academic Radiology
https://www.readbyqxmd.com/read/29080953/fatal-acute-retropharyngeal-hemorrhage-in-neurofibromatosis-type-1
#11
Pierre-Antoine Peyron, Michael S Pollanen
We report the sudden death of a woman with neurofibromatosis type 1 (NF1). The decedent developed acute respiratory distress and died rapidly despite an emergent cricothyroidotomy. An autopsy with postmortem CT scan was performed to determine the cause of the fatal respiratory collapse and to determine if death was related to neurofibromatosis. Postmortem examination revealed the classical external hallmarks of neurofibromatosis, including innumerable cutaneous neurofibromas. In addition, there was a massive retropharyngeal hematoma with fatal extrinsic compression of the airway...
December 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29055717/development-of-3d-culture-models-of-plexiform-neurofibroma-and-initial-application-for-phenotypic-characterization-and-drug-screening
#12
REVIEW
Janice M Kraniak, Anita Chalasani, Margaret R Wallace, Raymond R Mattingly
Plexiform neurofibromas (PNs), which may be present at birth in up to half of children with type 1 neurofibromatosis (NF1), can cause serious loss of function, such as quadriparesis, and can undergo malignant transformation. Surgery is the first line treatment although the invasive nature of these tumors often prevents complete resection. Recent clinical trials have shown promising success for some drugs, notably selumetinib, an inhibitor of MAP kinase kinase (MEK). We have developed three-dimensional (3D) cell culture models of immortalized cells from NF1 PNs and of control Schwann cells (SCs) that we believe mimic more closely the in vivo condition than conventional two-dimensional (2D) cell culture...
October 18, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/29044092/isolated-nonpulsatile-enophthalmos-in-neurofibromatosis-an-uncommon-entity
#13
Swati Singh, Kaustubh Mulay, Vikas Mittal
Isolated enophthalmos is a rarely observed entity in neurofibromatosis (NF). A 12-year-old male presented with right lower eyelid fat prolapse and enophthalmos for the past 7 years. There was no history of antecedent trauma/surgery. Computed tomography of orbit revealed an ill-defined intraconal hyperdense lesion located between lateral and inferior rectus along with an enlarged inferior orbital fissure (IOF). Superior orbital fissure was minimally widened without prolapse of any intracranial contents. Excision biopsy along with repair of widened IOF was performed through inferior transconjunctival route...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29033684/fluorine-18-2-fluoro-2-deoxy-d-glucose-positron-emission-tomography-computed-tomography-masquerading-as-a-case-of-sporadic-malignant-peripheral-nerve-sheath-tumor-of-lower-extremity-presenting-as-massive-lower-limb-edema
#14
Deepa Singh, Rajender Kumar, Ashim Das, Subhash C Varma, Bhagwant R Mittal
Malignant peripheral nerve sheath tumors (MPNSTs) are rare neuroectodermal tumors resulting from the malignant transformation of benign plexiform neurofibromas. The sporadic form of these tumors is rare than familial variants (seen in neurofibromatosis Type 1) and making the diagnosis difficult. We are presenting a case of 40--year-old female with the complaint of progressive swelling of lower limb with initial suspicion of lymphedema and underwent lymphoscintigraphy, magnetic resonance imaging, and finally fluorine-18-2-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography scans were done to rule out mitotic etiology and extent of the disease...
October 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28948502/solitary-plexiform-neurofibroma-of-the-hepatic-artery
#15
Guwei Ji, Ke Wang, Chenyu Jiao, Zefa Lu, Xiangcheng Li
No abstract text is available yet for this article.
September 25, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28928977/giant-scalp-plexiform-neurofibroma-associated-with-nf-1
#16
Sunil Munakomi
Herein we report an interesting image of a giant scalp plexiform neurofibroma associated with neurofibromatosis (NF)-1.
September 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28851321/rare-triad-of-periampullary-carcinoid-duodenal-gastrointestinal-stromal-tumor-and-plexiform-neurofibroma-at-hepatic-hilum-in-neurofibromatosis-type-1-a-case-report
#17
Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni
BACKGROUND: Neurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different types is frequent in neurofibromatosis type 1, simultaneous occurrence of abdominal tumors of three types in very rare. CASE PRESENTATION: A 66-year-old lady with neurofibromatosis type 1 presented with painless progressive jaundice for six months...
August 29, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28813519/expression-and-inhibition-of-brd4-ezh2-and-top2a-in-neurofibromas-and-malignant-peripheral-nerve-sheath-tumors
#18
Azadeh Amirnasr, Rob M Verdijk, Patricia F van Kuijk, Walter Taal, Stefan Sleijfer, Erik A C Wiemer
Malignant peripheral nerve sheath tumors (MPNST) are rare, highly aggressive sarcomas that can occur spontaneously or from pre-existing plexiform neurofibromas in neurofibromatosis type1 (NF1) patients. MPNSTs have high local recurrence rates, metastasize easily, are generally resistant to therapeutic intervention and frequently fatal for the patient. Novel targeted therapeutic strategies are urgently needed. Standard treatment for patients presenting with advanced disease is doxorubicin based chemotherapy which inhibits the actions of the enzyme topoisomerase IIα (TOP2A)...
2017: PloS One
https://www.readbyqxmd.com/read/28798215/spinal-and-paraspinal-plexiform-neurofibromas-in-patients-with-neurofibromatosis-type-1-a-novel-scoring-system-for-radiological-clinical-correlation
#19
M Mauda-Havakuk, B Shofty, S Ben-Shachar, L Ben-Sira, S Constantini, F Bokstein
BACKGROUND AND PURPOSE: Neurofibromatosis type 1 is a common tumor predisposition syndrome. The aim of this study was to characterize the radiologic presentation of patients with neurofibromatosis type 1 with widespread spinal disease and to correlate it to clinical presentation and outcome. MATERIALS AND METHODS: We conducted a historical cohort study of adult patients with neurofibromatosis type 1 with spinal involvement. Longitudinal clinical evaluation included pain and neurologic deficits...
August 10, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28771999/monitoring-of-plexiform-neurofibroma-in-children-and-adolescents-with-neurofibromatosis-type-1-by-18-f-fdg-pet-imaging-is-it-of-value-in-asymptomatic-patients
#20
Amedeo A Azizi, Irene Slavc, Benjamin Emile Theisen, Ivo Rausch, Michael Weber, Wolfgang Happak, Oskar Aszmann, Azadeh Hojreh, Andreas Peyrl, Gabriele Amann, Thomas M Benkoe, Wolfgang Wadsak, Gregor Kasprian, Anton Staudenherz, Marcus Hacker, Tatjana Traub-Weidinger
PURPOSE: About 10% of patients with neurofibromatosis type 1 (NF-1) develop malignant peripheral nerve sheath tumours (MPNST) mostly arising in plexiform neurofibroma (PN); 15% of MPNST arise in children and adolescents. 2-[(18) F]fluoro-2-deoxy-d-glucose ([(18) F]FDG)-PET (where PET is positron emission tomography) is a sensitive method in differentiating PN and MPNST in symptomatic patients with NF-1. This study assesses the value of [(18) F]FDG-PET imaging in detecting malignant transformation in symptomatic and asymptomatic children with PN...
August 3, 2017: Pediatric Blood & Cancer
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