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https://www.readbyqxmd.com/read/28207875/correction-whole-exome-sequencing-of-growing-and-non-growing-cutaneous-neurofibromas-from-a-single-patient-with-neurofibromatosis-type-1
#1
Daniel L Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot
[This corrects the article DOI: 10.1371/journal.pone.0170348.].
2017: PloS One
https://www.readbyqxmd.com/read/28203199/plexiform-neurofibroma-involving-the-lacrimal-gland
#2
Mikael Hofsli, Nico Gampenrieder, Steffen Heegaard
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. METHODS: A magnetic resonance imaging scan of the orbit revealed a solid tumor located extraconally at the site of the right lacrimal gland. A transcranial orbitotomy was performed. RESULTS: Histopathological examination demonstrated expanded nerve branches/fascicles cut in various planes in between normal lacrimal gland acini...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28168076/coexistence-of-juvenile-like-polyp-with-neurofibroma-at-the-gastroesophageal-junction-in-an-adult-with-neurofibromatosis-type-i
#3
Namrah Aijaz, Peter Draganov, Atif Iqbal, Xiuli Liu
A 23-year-old Caucasian male with Neurofibromatosis Type I (NF-I) was found to have a submucosal nodule at the gastroesophageal junction (GEJ) and underwent endoscopic submucosal dissection. Histological examination revealed two different lesions within the nodule. The dominant lesion was inflammatory/hyperplastic (juvenile-like) polyp with obliterative vasculopathy while the smaller lesion was a neurofibroma. Gastric/GEJ lesions in NF-I are very rare with only seven cases reported in the literature. Three cases of juvenile-like gastric polyps (located in the antrum, greater curvature, and fundus) have been reported in adult NF-I patients...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28166752/a-rare-case-of-bilateral-cervical-vagal-neurofibromas-role-of-high-resolution-ultrasound
#4
Bin Liu, Yuanding Zhang, Lili Zhang, Fan Zhang, Hongyu Li, Shuang Li, Yafang Liu, Jie Du, Lirong Zhao
BACKGROUND: Neurofibromas originating from vagus nerves are rarely reported in the literature. In particular, plexiform neurofibromas of the bilateral cervical vagus nerve are extremely rare. CASE PRESENTATION: A 21-year-old female presented with a 2-year history of swelling on the right side of her neck. Physical examination revealed a soft-tissue mass on the right side of her neck. Ultrasonography (US) and magnetic resonance (MR) imaging showed a tumor centered in the right carotid sheath between the internal jugular vein and the common carotid artery...
February 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28164057/tubercular-tenosynovitis-of-hand-a-rare-presentation
#5
Aditya Jain, Rajesh Rohilla, Ashish Devgan, Jitendra Wadhwani
INTRODUCTION: Tuberculosis tenosynovitis of the wrist and hand is an unusual condition. It mimics a number of other clinical conditions such as ganglion, De quervan's disease, carpal tunnel syndrome, granulomatous gout, neurofibroma, and haemangioma. CASE REPORT: We present case of 58-year-old male patient with swelling over thenar region of left hand where the initial fine needle aspiration cytology (FNAC) report suggested diagnosis of ganglion/synovial cyst, but the patient did not improve with conservative treatment...
September 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28163183/a-femoral-common-vein-aneurysm-in-a-patient-with-neurofibromatosis-syndrome-type-1
#6
C Seinturier, S Blaise, F Thony, J L Magne, G Pernod
Neurofibromatosis type I (NFI), also called Von Recklinghausen disease, is an autosomal dominant disease secondary to a genetic mutation on the long arm of chromosome 17. This disorder affects neural crest cells. Cutaneous clinical forms are the most frequent with multiple benign skin neurofibromas, associated with café au lait skin spots and iris hamartomas. Vascular abnormalities in NF1 are rare but have also been well described. The most frequent abnormalities are characterized by arterial aneurysm degeneration, stenosis, and malformations...
February 2, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28145924/characteristics-of-pediatric-cheek-mass
#7
Ye Seul Eom, So Young Lim
PURPOSE: Patients with cheek mass are often referred to our medical center's department of plastic surgery. Most patients with deep cheek mass have the characteristic of a slowly growing, painless mass. We reviewed the lesion's pathology of this complex anatomic area in the pediatric population, focusing on differential diagnosis and the recent surgical strategies. METHODS: We retrospectively reviewed 56 patients visiting our department from 2009 to 2016. Data analysis included the patients' lesion characteristics, clinical presentation, presumptive diagnosis, results of preoperative investigations, pathological diagnosis, and treatment details...
January 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28135565/dissecting-clinical-heterogeneity-in-neurofibromatosis-type-1
#8
Courtney L Monroe, Sonika Dahiya, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected children and adults are predisposed to the development of benign and malignant nervous system tumors. Caused by a germline mutation in the NF1 tumor suppressor gene, individuals with NF1 are prone to optic gliomas, malignant gliomas, neurofibromas, and malignant peripheral nerve sheath tumors, as well as behavioral, cognitive, motor, bone, cardiac, and pigmentary abnormalities. Although NF1 is a classic monogenic syndrome, the clinical features of the disorder and their impact on patient morbidity are variable, even within individuals who bear the same germline NF1 gene mutation...
January 24, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28125937/thoracic-compression-myelopathy-due-to-the-progression-of-dystrophic-scoliosis-the-presence-of-a-paraspinal-tumor-and-high-and-excessive-amplitude-movement-of-the-shoulder
#9
Takashi Kurosawa, Takashi Yurube, Kenichiro Kakutani, Koichiro Maeno, Koki Uno, Masahiro Kurosaka, Kotaro Nishida
The authors present a case of 45-year-old man with neurofibromatosis type 1 (NF-1) and thoracic scoliosis, previously undergoing fusion surgery, who developed myelopathy. This patient further complained of lightning pain when he extended and horizontally abducted the convex-side shoulder. Radiological examination revealed the progression of dystrophic scoliosis with opened spinal canals and the presence of a neurofibroma behind the spinal cord at the apical levels. Delayed development of spinal instability can occur due to dystrophy even postoperatively in patients with NF-1...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28125156/application-of-the-laser-diode-with-central-wavelength-975%C3%A2-nm-for-the-therapy-of-neurofibroma-and-hemangiomas
#10
Jacek Szymanczyk, Miroslaw Sawczak, Witold Cenian, Katarzyna Karpienko, Malgorzata Jedrzejewska-Szczerska, Adam Cenian
No abstract text is available yet for this article.
January 1, 2017: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/28124441/confirmation-of-mutation-landscape-of-nf1-associated-malignant-peripheral-nerve-sheath-tumors
#11
Pierre Sohier, Armelle Luscan, Angharad Lloyd, Kevin Ashelford, Ingrid Laurendeau, Audrey Briand-Suleau, Dominique Vidaud, Nicolas Ortonne, Eric Pasmant, Meena Upadhyaya
The commonest tumors associated with neurofibromatosis type 1 (NF1) are benign peripheral nerve sheath tumors, called neurofibromas. Malignant transformation of neurofibromas into aggressive MPNSTs may occur with a poor patient prognosis. A co-operative role of SUZ12 or EED inactivation, along with NF1, TP53, and CDKN2A loss-of-function, has been proposed to drive progression to MPNSTs. An exome sequencing analysis of eight MPNSTs, one plexiform neurofibroma, and seven cutaneous neurofibromas was undertaken...
January 25, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28122801/interesting-association-of-neurofibroma-with-diffuse-cystic-lung-disease-nf-dld
#12
Sharath P Madhyastha, Vinaya Gopalaswamy, Charan Thej Reddy, Raviraja V Acharya
No abstract text is available yet for this article.
January 25, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28103501/congenital-embryonal-rhabdomyosarcoma-multiple-lesions
#13
Heidarali Esmaeili, Mahzad Azimpouran
INTRODUCTION: Congenital or neonatal rhabdomyosarcoma (RMS) is a rare soft tissue tumor with the most common sites of origin in genitourinary tract, head, and neck regions and extremities are less commonly involved. PRESENTATION OF CASE: In this paper, a case of embryonal RMS with skin lesions, lymph nodes metastasis, and bone marrow metastasis is reported for a 1-month old female patient. DISCUSSION: This study presents how within 8-months of chemotherapy, the lesions got subsided and the patient became disease free...
January 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28099461/whole-exome-sequencing-of-growing-and-non-growing-cutaneous-neurofibromas-from-a-single-patient-with-neurofibromatosis-type-1
#14
Daniel L Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot
The growth behaviors of cutaneous neurofibromas in patients with Neurofibromatosis type 1 are highly variable. The role of the germline NF1 mutation, somatic NF1 mutation and mutations at modifying loci, are poorly understood. We performed whole exome sequencing of three growing and three non-growing neurofibromas from a single individual to assess the role of acquired somatic mutations in neurofibroma growth behavior. 1-11 mutations were identified in each sample, including two deleterious NF1 mutations. No trends were present between the types of somatic mutations identified and growth behavior...
2017: PloS One
https://www.readbyqxmd.com/read/28093344/unusual-intracerebral-presentation-of-a-myxoid-neurofibroma-a-case-report
#15
Marcos Devanir Silva da Costa, Karina Hoshino, João Norberto Stavale, Oreste Paulo Lanzoni, Sergio Cavalheiro, Manoel Antonio Paiva Neto
BACKGROUND: Neurofibromas are benign nerve sheath tumors that usually affect peripheral nerves and are related to Neurofibromatosis type 1; however, they have not been described as a cause of intraparenchymal brain tumor. CASE DESCRIPTION: We report a case of intracranial myxoid neurofibroma in a 19-year-old female patient manifested as an intense and progressive cephalea, followed by nausea, vomiting, and photo- and phonophobia. Computerized tomography and magnetic resonance imaging showed an extent expansive left frontoparietal parafalcine/parasagittal tumor...
January 13, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28089105/selumetinib-for-children-with-plexiform-neurofibromas
#16
Talha Khan Burki
No abstract text is available yet for this article.
January 6, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28068329/the-primacy-of-nf1-loss-as-the-driver-of-tumorigenesis-in-neurofibromatosis-type-1-associated-plexiform-neurofibromas
#17
A Pemov, H Li, R Patidar, N F Hansen, S Sindiri, S W Hartley, J S Wei, A Elkahloun, S C Chandrasekharappa, J F Boland, S Bass, J C Mullikin, J Khan, B C Widemann, M R Wallace, D R Stewart
Neurofibromatosis type 1 (NF1) is a common tumor-predisposition disorder due to germline mutations in the tumor suppressor gene NF1. A virtually pathognomonic finding of NF1 is the plexiform neurofibroma (PN), a benign, likely congenital tumor that arises from bi-allelic inactivation of NF1. PN can undergo transformation to a malignant peripheral nerve sheath tumor, an aggressive soft-tissue sarcoma. To better understand the non-NF1 genetic contributions to PN pathogenesis, we performed whole-exome sequencing, RNASeq profiling and genome-wide copy-number determination for 23 low-passage Schwann cell cultures established from surgical PN material with matching germline DNA...
January 9, 2017: Oncogene
https://www.readbyqxmd.com/read/28067315/kank1-inhibits-cell-growth-by-inducing-apoptosis-though-regulating-cxxc5-in-human-malignant-peripheral-nerve-sheath-tumors
#18
Zhibin Cui, Yingjia Shen, Kenny H Chen, Suresh K Mittal, Jer-Yen Yang, GuangJun Zhang
Malignant peripheral nerve sheath tumors (MPNSTs) are a type of rare sarcomas with a poor prognosis due to its highly invasive nature and limited treatment options. Currently there is no targeted-cancer therapy for this type of malignancy. Thus, it is important to identify more cancer driver genes that may serve as targets of cancer therapy. Through comparative oncogenomics, we have found that KANK1 was a candidate tumor suppressor gene (TSG) for human MPNSTs. Although KANK1 is known as a cytoskeleton regulator, its tumorigenic function in MPNSTs remains largely unknown...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28050470/neurofibromatosis-type-1-presenting-with-ophthalmic-features-a-case-series
#19
Gunjan Jain, Vaibhav Kumar Jain, Indra Kumar Sharma, Reena Sharma, Neeraj Saraswat
Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder involving multiple systems and affects approximately 1 out of 3000 persons. Ocular manifestations are lisch nodules, plexiform neurofibroma, optic pathway gliomas. The proper diagnosis of NF-1 is a crucial task for a clinician due to the various clinical manifestations including vision and life threatening malignancies in few patients, which may arise in the different phases of life. The authors report three cases of NF-1, presenting with ophthalmic symptoms in teenager boys...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28050327/isolated-schwannoma-of-the-upper-eyelid-margin-in-a-50-year-old-male
#20
Mehmet Serdar Dervişoğulları, Yüksel Totan, Ümran Yıldırım
Schwannomas (neurilemmomas) are benign neurogenic tumours of peripheral nerves. They originate from Schwann cells, which form the neural sheath. Although Schwannomas and neurofibromas are the most common primary peripheral nerve tumours, Schwannomas are rarely observed in ophthalmic areas. When they occur, ocular Schwannomas are usually located in the orbit, uveal tract and conjunctiva. Isolated eyelid Schwannomas are reported infrequently. Herein, we describe a case of eyelid Schwannoma in a 50-year-old man...
December 2016: Turkish Journal of Ophthalmology
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