keyword
https://read.qxmd.com/read/38534080/an-algorithmic-approach-to-the-management-of-peripheral-nerve-tumours
#1
REVIEW
Tim Hems, Antonina Parafioriti, Binu P Thomas, Andrea Di Bernardo
This article reviews the pathology and management of peripheral nerve tumours, including a framework for investigation and decision-making. Most tumours are benign, including schwannomas and neurofibromas, but malignant peripheral nerve sheath tumours can occur. The risk of malignant change is remote for schwannomas but higher for neurofibromas, particularly in neurofibromatosis type 1. Magnetic resonance imaging is useful for defining the relationship of a swelling with adjacent nerves but is not definitive for tissue diagnosis...
March 27, 2024: Journal of Hand Surgery, European Volume
https://read.qxmd.com/read/38533410/epidemiology-and-outcomes-of-neurofibromatosis-type-1-nf-1-multicenter-tertiary-experience
#2
JOURNAL ARTICLE
Mohammed Almuqbil, Fatimah Yaseen Alshaikh, Waleed Altwaijri, Duaa Baarmah, Raid Harb Hommady, Maryam Yaseen Alshaikh, Fares Alammari, Meshal Alhussain, Reem Almotawa, Faris Alqarni, Amna Kashgari, Rayan Alkhodair, Jumanah N Alkhater, Lujeen Nasser Alkhater, Sawsan A Alharthi, Mada Abdulkarim Alsadi, Ahmed AlRumayyan
PURPOSE: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. PATIENTS AND METHODS: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia...
2024: Journal of Multidisciplinary Healthcare
https://read.qxmd.com/read/38508203/-interdisciplinary-treatment-of-tumorous-and-tumour-like-lesions-of-peripheral-nerves
#3
JOURNAL ARTICLE
Nora Franziska Dengler, Maria Teresa Pedro, Jonas Kolbenschlag
Tumorous or tumour-like lesions of peripheral nerves are generally rare, heterogeneous and challenging to diagnose and treat. They may become apparent by a palpable swelling (lump) near nerves, sensory and/or motor deficits, pain to touch or neuropathic pain. In 91% of cases, tumours are benign. The differentiation of entities and their characteristics as well as a function-preserving resection strategy are highly relevant. Misdiagnosis and inadequate treatment can lead to severe deficits and pain syndromes...
February 2024: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://read.qxmd.com/read/38506024/-neurofibromatosis-type-2-in-the-otorhinolaryngological-practice
#4
JOURNAL ARTICLE
M V Subbotina, A V Berseneva
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disease (frequency 1 in 25-90 000) characterized by the formation of tumors of the central nervous system due to a mutation in the NF2 gene on chromosome 22q12. Bilateral vestibular schwannomas are recognized as absolute diagnostic criteria of NF2 and occur in 95% of patients, are accompanied by hearing impairment, manifest at the age of 18-24 years. Skin manifestations can precede vestibular schwannomas for several years and predict the course of the disease: neurofibromas, cafe-au-lait macules, hypopigmented spots, recently described mesh capillary malformations...
2024: Vestnik Otorinolaringologii
https://read.qxmd.com/read/38503969/utility-of-lef1-to-differentiate-desmoid-fibromatosis-from-its-histologic-mimics
#5
JOURNAL ARTICLE
Soma Jobbagy, Santiago Lozano-Calderon, John T Mullen, G Petur Nielsen, Yin P Hung, Ivan Chebib
Diagnosis of desmoid-type fibromatosis (DF) may be challenging on biopsy due to morphologic overlap with reactive fibrosis (scar) and other uniform spindle cell neoplasms. Evaluation of nuclear β-catenin, a surrogate of Wnt pathway activation, is often difficult in DF due to weak nuclear expression and high background membranous/cytoplasmic staining. Lymphoid enhancer-factor 1 (LEF1) is a recently characterized effector partner of β-catenin which activates the transcription of target genes. We investigated the performance of LEF1 and β-catenin immunohistochemistry in a retrospective series of 156 soft tissue tumors, including 35 DF, 3 superficial fibromatosis, and 121 histologic mimics (19 soft tissue perineurioma, 8 colorectal perineurioma, 4 intraneural perineurioma, 26 scars, 23 nodular fasciitis, 6 low-grade fibromyxoid sarcomas, 6 angioleiomyomas, 5 neurofibromas, 5 dermatofibrosarcoma protuberans, 3 low-grade myofibroblastic sarcomas, 3 synovial sarcomas, 3 inflammatory myofibroblastic tumors, 2 schwannomas, and 1 each of Gardner-associated fibroma, radiation-associated spindle cell sarcoma, sclerotic fibroma, dermatofibroma, and glomus tumor)...
March 19, 2024: Virchows Archiv: An International Journal of Pathology
https://read.qxmd.com/read/38502338/efficacy-and-safety-of-selumetinib-in-patients-with-neurofibromatosis-type-1-and-inoperable-plexiform-neurofibromas-a-systematic-review-and-meta-analysis
#6
REVIEW
Yahui Han, Biyun Li, Xiaokun Yu, Jianing Liu, Wei Zhao, Da Zhang, Jiao Zhang
BACKGROUND: The approval of selumetinib in patients with neurofibromatosis type 1(NF1) and inoperable plexiform neurofibromas (PN) has reshaped the landscape of clinical management of the disease, and further comprehensive evaluation of the drug's efficacy and safety is needed. METHODS: Original articles reporting on the efficacy and safety of elumetinib in patients with NF1 were comprehensively searched in the Pubmed database, Embase database, Cochrane Library, and Web of Science database and screened for inclusion of studies that met the criteria...
March 19, 2024: Journal of Neurology
https://read.qxmd.com/read/38499890/the-plexiqol-a-patient-reported-outcome-measure-on-quality-of-life-in-neurofibromatosis-type-1-associated-plexiform-neurofibroma-translation-cultural-adaptation-and-validation-into-the-dutch-language-for-the-netherlands
#7
JOURNAL ARTICLE
Britt A E Dhaenens, Sarah A van Dijk, Walter Taal, D Christine Noordhoek, Anna Coffey, Stephen P McKenna, Rianne Oostenbrink
BACKGROUND: Half of the patients with Neurofibromatosis type 1 (NF1) develop one or more tumours called plexiform neurofibromas, which can have a significant impact on Quality of Life (QoL). The PlexiQoL questionnaire is a disease-specific QoL measure for adults with NF1-associated plexiform neurofibromas. The aim of this study was to adapt and validate a Dutch version of the PlexiQoL for the Netherlands. METHODS: The PlexiQoL was translated using the dual-panel methodology, followed by cognitive debriefing interviews to assess face and content validity...
March 18, 2024: Journal of Patient-Reported Outcomes
https://read.qxmd.com/read/38496191/a-case-of-neurofibroma-in-the-supraumbilical-region-undergoing-cystic-myxomatous-degeneration-an-unusual-presentation
#8
Yogesh B Manek, Suhas Jajoo, Chandrashekhar Mahakalkar, Shivani Kshirsagar
Primary umbilical neoplasms are exceptionally rare. Neurofibromas histologic findings vary from collagenous to myxoid matrix according to the neoplastic elements differentiation. We present a case of neurofibroma in the supraumbilical region undergoing cystic myxomatous degeneration. A 75-year-old female presented to the department with a complaint of swelling above the umbilicus for the last three years. The swelling was excised and grossly was a single, irregular, reddish-yellow cystic mass measuring 4.5 × 4 x 3 cm...
February 2024: Curēus
https://read.qxmd.com/read/38481300/robotic-resection-for-splenic-artery-aneurysm-associated-with-neurofibromatosis-type-1-a-case-report
#9
JOURNAL ARTICLE
Akihiko Ueda, Kenta Saito, Hiromichi Murase, Tomokatsu Kato, Hiroyuki Imafuji, Mamoru Morimoto, Ryo Ogawa, Hiroki Takahashi, Yoichi Matsuo, Shuji Takiguchi
BACKGROUND: Neurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other symptoms in the bones, eyes, and nervous system. Due to its connection with vascular fragility, neurofibromatosis type 1 has been reported to be associated with vascular lesions, such as aneurysms. However, there have been few reports of abdominal visceral aneurysms associated with neurofibromatosis type 1. Furthermore, there have been no reports of robotic treatment of aneurysms associated with neurofibromatosis type 1...
March 14, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38480589/pediatric-orbital-lesions-neoplastic-extraocular-soft-tissue-lesions
#10
JOURNAL ARTICLE
Samantha K Gerrie, Helen M Branson, Christopher J Lyons, Eman Marie, Heena Rajani, Cassidy S Frayn, Emily C M Hughes, Oscar M Navarro
Pediatric neoplastic extraocular soft-tissue lesions in the orbit are uncommon. Early multimodality imaging work-up and recognition of the key imaging features of these lesions allow narrowing of the differential diagnoses in order to direct timely management. In this paper, the authors present a multimodality approach to the imaging work-up of these lesions and highlight the use of ocular ultrasound as a first imaging modality where appropriate. We will discuss vascular neoplasms (congenital hemangioma, infantile hemangioma), optic nerve lesions (meningioma, optic nerve glioma), and other neoplastic lesions (plexiform neurofibroma, teratoma, chloroma, rhabdomyosarcoma, infantile fibrosarcoma, schwannoma)...
March 14, 2024: Pediatric Radiology
https://read.qxmd.com/read/38473354/the-nf1-immune-microenvironment-dueling-roles-in-neurofibroma-development-and-malignant-transformation
#11
REVIEW
Emily E White, Steven D Rhodes
Neurofibromatosis type 1 (NF1) is a common genetic disorder resulting in the development of both benign and malignant tumors of the peripheral nervous system. NF1 is caused by germline pathogenic variants or deletions of the NF1 tumor suppressor gene, which encodes the protein neurofibromin that functions as negative regulator of p21 RAS. Loss of NF1 heterozygosity in Schwann cells (SCs), the cells of origin for these nerve sheath-derived tumors, leads to the formation of plexiform neurofibromas (PNF)-benign yet complex neoplasms involving multiple nerve fascicles and comprised of a myriad of infiltrating stromal and immune cells...
February 29, 2024: Cancers
https://read.qxmd.com/read/38471245/epilepsy-in-neurofibromatosis-type-1-prevalence-phenotype-and-genotype-in-adults
#12
JOURNAL ARTICLE
Julien Hébert, Robert J De Santis, Lubna Daniyal, Shabber Mannan, Eduardo Ng, Emily Thain, Maria Carolina Sanabria-Salas, Raymond H Kim, Vera Bril, Aylin Y Reid
PURPOSE: Studies have shown an increased risk of epilepsy in patients with neurofibromatosis type 1 (NF1). However, most reports focus on the pediatric population. In this study, we describe the trajectory of patients with NF1 and epilepsy beyond childhood. METHODS: Patients with NF1 ≥18 years-old consecutively seen at a multidisciplinary neurofibromatosis clinic during a four-year period were prospectively enrolled and offered routine EEG, MRI, and genetic testing...
March 2, 2024: Epilepsy Research
https://read.qxmd.com/read/38469797/double-balloon-enteroscopy-for-the-detection-of-gist-in-a-patient-with-neurofibromatosis-type-1
#13
JOURNAL ARTICLE
Liliangzi Guo, Jie-Li Chen, Li-Sheng Wang, Jun Yao
NF1 is an autosomal dominant hereditary disease, with a prevalence of at least 1 in 4000-5000 population. The diagnosis criteria of NF1 included typical manifestations such as café-au-lait spots, frecking in the axilla or inguinal region, multiple neurofibromas, Lisch nodeules, and distinctive osseous lesions. Genetic testing shows NF1 mutation. It is essential for tumor surveillance in NF1 patients because their life expectancy is about 54 years due to malignancy. A case of NF-1 patient receive laparoscopic small bowel resection and finally diagnosed as adenocarcinoma and ganglioneuroma...
March 12, 2024: Revista Española de Enfermedades Digestivas
https://read.qxmd.com/read/38468867/discrimination-of-benign-atypical-and-malignant-peripheral-nerve-sheath-tumors-in-neurofibromatosis-type-1-using-diffusion-weighted-mri
#14
JOURNAL ARTICLE
Inka Ristow, Michael G Kaul, Maria Stark, Antonia Zapf, Christoph Riedel, Alexander Lenz, Victor F Mautner, Said Farschtschi, Ivayla Apostolova, Gerhard Adam, Peter Bannas, Johannes Salamon, Lennart Well
BACKGROUND: Neurofibromatosis type 1 (NF1) is associated with the development of benign (BPNST) and malignant (MPNST) peripheral nerve sheath tumors. Recently described atypical neurofibromas (ANF) are considered pre-malignant precursor lesions to MPNSTs. Previous studies indicate that diffusion-weighted magnetic resonance imaging (DW-MRI) can reliably discriminate MPNSTs from BPNSTs. We therefore investigated the diagnostic accuracy of DW-MRI for the discrimination of benign, atypical, and malignant peripheral nerve sheath tumors...
2024: Neuro-oncology advances
https://read.qxmd.com/read/38462474/curved-axillary-incision-with-video-assisted-thoracoscopic-surgery-an-alternative-approach-for-teenage-female-with-large-apical-chest-wall-tumor
#15
JOURNAL ARTICLE
Ryoichiro Doi, Hiromi Ichikawa, Keitaro Matsumoto, Koichi Tomoshige, Ryusuke Machino, Shinji Okano, Takeshi Nagayasu
Primary chest wall tumors are rare, their common clinical features are not well known, and surgical resection remains the main treatment. Apical chest wall tumors require large skin incisions and dissection of the chest wall muscles, making it difficult to maintain cosmetic appearance, respiratory function, and support of the upper extremity. There are few treatment options and no studies have reported on thoracotomy that spares muscles and preserves cosmetic superiority. However, in benign chest wall tumors in young patients, it is necessary to consider radicality, cosmetic superiority, and muscle sparing...
2024: Annals of Thoracic and Cardiovascular Surgery
https://read.qxmd.com/read/38459636/diffuse-neurofibroma-with-hypertrichosis-in-a-toddler
#16
Robert P Bower, Paul Leiphart, Thomas Samson, Klaus F Helm, Andrea Zaenglein
Diffuse neurofibroma is a rare type of neurofibroma uncommonly reported in infancy. It is a slow growing tumor originating in the peripheral nerve sheath. We present the case of a 17-month-old boy with diffuse neurofibroma of the scalp associated with hypertrichosis. His genetic and clinical workup for neurofibromatosis was negative.
March 8, 2024: Pediatric Dermatology
https://read.qxmd.com/read/38458648/c5ar-plus-mek-inhibition-durably-targets-the-tumor-milieu-and-reveals-tumor-cell-phagocytosis
#17
JOURNAL ARTICLE
Melissa R Perrino, Niousha Ahmari, Ashley Hall, Mark Jackson, Youjin Na, Jay Pundavela, Sara Szabo, Trent M Woodruff, Eva Dombi, Mi-Ok Kim, Jörg Köhl, Jianqiang Wu, Nancy Ratner
Plexiform neurofibromas (PNFs) are nerve tumors caused by loss of NF1 and dysregulation of RAS-MAPK signaling in Schwann cells. Most PNFs shrink in response to MEK inhibition, but targets with increased and durable effects are needed. We identified the anaphylatoxin C5a as increased in PNFs and expressed largely by PNF m acrophages. We defined pharmacokinetic and immunomodulatory properties of a C5aR1/2 antagonist and tested if peptide antagonists augment the effects of MEK inhibition. MEK inhibition recruited C5AR1 to the macrophage surface; short-term inhibition of C5aR elevated macrophage apoptosis and Schwann cell death, without affecting MEK-induced tumor shrinkage...
May 2024: Life Science Alliance
https://read.qxmd.com/read/38457580/conjunctival-myxoma-a-case-report-and-review-of-a-rare-tumor
#18
JOURNAL ARTICLE
Seong Eun Lee, Sung Bok Lee, Kyunghee Kim, Jae Yun Sung
RATIONALE: Conjunctival myxoma is a rare benign tumor, which can mimic more common conjunctival lesions such as a cyst, lymphangioma, amelanotic nevus, neurofibroma, amelanotic melanoma, or lipoma. We describe a patient with the conjunctival myxoma, who was initially misdiagnosed as a conjunctival cyst. This case report includes intraoperative photographs and various immunohistochemical staining images. PATIENTS CONCERNS: A 55-year-old woman presented with a painless mass in the superotemporal conjunctiva of the left eye, which she had noticed 1 month ago...
March 8, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38448973/correlation-between-large-rearrangements-and-patient-phenotypes-in-nf1-deletion-syndrome-an-update-and-review
#19
JOURNAL ARTICLE
Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya
About 5-10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low copy repeats. This "type-1" deletion is associated with a severe clinical phenotype in NF1 patients, with several phenotypic manifestations including learning disability, a much earlier development of cutaneous neurofibromas, an increased tumour risk, and cardiovascular malformations...
March 6, 2024: BMC Medical Genomics
https://read.qxmd.com/read/38443693/impact-of-trametinib-on-the-neuropsychological-profile-of-nf1-patients
#20
JOURNAL ARTICLE
Eve Lalancette, Édith Cantin, Marie-Ève Routhier, Chantal Mailloux, Marie-Claude Bertrand, Dorsa Sadat Kiaei, Valérie Larouche, Uri Tabori, Cynthia Hawkins, Benjamin Ellezam, Jean-Claude Décarie, Yves Théoret, Marie-Élaine Métras, Tara McKeown, Luis H Ospina, Stéphanie Vairy, Vijay Ramaswamy, Hallie Coltin, Serge Sultan, Geneviève Legault, Éric Bouffet, Lucie Lafay-Cousin, Juliette Hukin, Craig Erker, Maxime Caru, Mathieu Dehaes, Nada Jabado, Sébastien Perreault, Sarah Lippé
PURPOSE: The use of trametinib in the treatment of pediatric low-grade gliomas (PLGG) and plexiform neurofibroma (PN) is being investigated in an ongoing multicenter phase II trial (NCT03363217). Preliminary data shows potential benefits with significant response in the majority of PLGG and PN and an overall good tolerance. Moreover, possible benefits of MEK inhibitor therapy on cognitive functioning in neurofibromatosis type 1 (NF1) were recently shown which supports the need for further evaluation...
March 5, 2024: Journal of Neuro-oncology
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