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Plexiform Neurofibroma

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https://www.readbyqxmd.com/read/28315612/ultrasound-assessment-of-peripheral-nerve-pathology-in-neurofibromatosis-type-1-and-2
#1
Natalie Winter, Tim W Rattay, Hubertus Axer, Eva Schäffer, Bernhard F Décard, Isabel Gugel, Martin Schuhmann, Alexander Grimm
OBJECTIVE: The neurofibromatoses (NF) type 1 and 2 are hereditary tumor predisposition syndromes caused by germline mutations in the NF1 and NF2 tumor suppressor genes. In NF1 and 2, peripheral nerve tumors occur regularly. For further characterizing nerve ultrasound was performed in patients with NF1 and 2. METHODS: Patients with established diagnosis of NF1 (n=27) and NF2 (n=10) were included. Ultrasound of peripheral nerves and cervical roots was performed during routine follow-up visits...
February 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28235631/clinicopathologic-features-of-peripheral-nerve-sheath-tumors-involving-the-eye-and-ocular-adnexa
#2
Mingjuan L Zhang, Maria J Suarez, Thomas M Bosley, Fausto J Rodriguez
Peripheral nerve sheath tumors (PNSTs) are known to occur in the orbit and comprise 4% of all orbital tumors, but have not been well-studied in contemporary literature. Ninety specimens involving the eye and ocular adnexa (1979-2015) from 67 patients were studied. The mean age was 32.5years. Locations included orbit (58.9%), eyelid (60.0%) and other ocular adnexa. A large majority of specimens were neurofibromas (70.0%), followed by schwannomas (11.1%), neuromas (11.1%), granular cell tumors (n=4), nerve sheath myxomas (n=2), and malignant peripheral nerve sheath tumor (n=1)...
February 21, 2017: Human Pathology
https://www.readbyqxmd.com/read/28230061/neurofibromatosis-type-1
#3
REVIEW
David H Gutmann, Rosalie E Ferner, Robert H Listernick, Bruce R Korf, Pamela L Wolters, Kimberly J Johnson
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life...
February 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28217149/congenital-extra-calvarial-plexiform-neurofibroma-in-occipito-cervical-region-with-occipital-bone-defect-with-neurofibromatosis-type-1-and-segmental-neurofibromatosis-case-report-and-review-of-literature
#4
REVIEW
Vivek Kumar Kankane, Gaurav Jaiswal, Tarun Kumar Gupta
Plexiform neurofibroma (PNF) of the scalp is an extremely rare lesion reported in association with neurofibromatosis (NF). Occipital location of PNF is even more infrequent; we reported one pediatric case of PNF in occipito-cervical region with multiple small occipital bone defects and associated with NF-1.
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28213670/emerging-genotype-phenotype-relationships-in-patients-with-large-nf1-deletions
#5
REVIEW
Hildegard Kehrer-Sawatzki, Victor-Felix Mautner, David N Cooper
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germline type-1 NF1 microdeletions frequently exhibit dysmorphic facial features, overgrowth/tall-for-age stature, significant delay in cognitive development, large hands and feet, hyperflexibility of joints and muscular hypotonia...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28203199/plexiform-neurofibroma-involving-the-lacrimal-gland
#6
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/28166752/a-rare-case-of-bilateral-cervical-vagal-neurofibromas-role-of-high-resolution-ultrasound
#7
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/28124441/confirmation-of-mutation-landscape-of-nf1-associated-malignant-peripheral-nerve-sheath-tumors
#8
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 cooperative 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...
May 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28089105/selumetinib-for-children-with-plexiform-neurofibromas
#9
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
#10
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/28050470/neurofibromatosis-type-1-presenting-with-ophthalmic-features-a-case-series
#11
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/28036318/unanticipated-compression-of-the-trachea-in-a-5-month-old-undergoing-an-mri-for-evaluation-of-neurofibromatosis
#12
Uduak Ursula Williams, Acsa M Zavala, Antoinette Van Meter, Elizabeth Rebello, Jens Tan, Pascal Owusu-Agyemang
Neurofibromatosis type 1 is an autosomal-dominant disorder with the tendency toward the formation of tumors. Plexiform neurofibromas are the most common type of tumors seen in neurofibromatosis type 1. Approximately 50% occur in the head and neck region with a 5% incidence of airway involvement. We describe the case of a 5 month old with a plexiform neurofibroma of the neck who developed complete airway obstruction on induction of anesthesia. Magnetic resonance imaging revealed a skull base neurofibroma extending to the hypopharynx and resulting in deviation of the airway...
January 1, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28029918/activity-of-selumetinib-in-neurofibromatosis-type-1-related-plexiform-neurofibromas
#13
Eva Dombi, Andrea Baldwin, Leigh J Marcus, Michael J Fisher, Brian Weiss, AeRang Kim, Patricia Whitcomb, Staci Martin, Lindsey E Aschbacher-Smith, Tilat A Rizvi, Jianqiang Wu, Rachel Ershler, Pamela Wolters, Janet Therrien, John Glod, Jean B Belasco, Elizabeth Schorry, Alessandra Brofferio, Amy J Starosta, Andrea Gillespie, Austin L Doyle, Nancy Ratner, Brigitte C Widemann
Background Effective medical therapies are lacking for the treatment of neurofibromatosis type 1-related plexiform neurofibromas, which are characterized by elevated RAS-mitogen-activated protein kinase (MAPK) signaling. Methods We conducted a phase 1 trial of selumetinib (AZD6244 or ARRY-142886), an oral selective inhibitor of MAPK kinase (MEK) 1 and 2, in children who had neurofibromatosis type 1 and inoperable plexiform neurofibromas to determine the maximum tolerated dose and to evaluate plasma pharmacokinetics...
December 29, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27932436/multifactorial-pathological-hip-subluxation-in-neurofibromatosis-type-1-nf1-due-to-intra-articular-plexiform-neurofibroma-lumbar-radiculopathy-and-neurofibromatous-polyneuropathy
#14
Waqar Waheed, Diego F Diego F Lemos, Nelms Nathaniel Nelms, Rup Tandan
Neurofibromatosis type-1 (NF1) is a multisystem disorder with very rare descriptions of hip instability. We report a case of a 37-year-old man with known NF1 and childhood-onset of left foot drop, who developed persistent left hip pain following a minor trauma. Physical examination revealed left-sided mild foot drop, hip abductor weakness, bilateral sensory loss in feet and an antalgic gait. Work-up revealed anterolateral subluxation of the left femoral head along with left hip plexiform neurofibroma (PN), dysplastic and degenerative changes, neurofibromatous neuropathy and chronic left L5 radiculopathy...
December 8, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27914685/protein-gene-product-9-5-pgp9-5-expression-in-benign-cutaneous-mesenchymal-histiocytic-and-melanocytic-lesions-comparison-with-cellular-neurothekeoma
#15
Grace Y Wang, Rosalynn M Nazarian, Lili Zhao, Alexandra C Hristov, Rajiv M Patel, Douglas R Fullen, May P Chan
Cellular neurothekeoma (CNTK) frequently enters the differential diagnosis of a benign dermal cellular proliferation. Diagnosis often relies on immunohistochemistry including the use of protein gene product 9.5 (PGP9.5). A previous study demonstrated PGP9.5 expression across a wide variety of soft tissue neoplasms. We explored the utility of this antibody in distinguishing CNTK from other benign dermal-based lesions. A cohort of CNTK (n=7) and benign cutaneous lesions of neural (n=28), fibrohistiocytic (n=23), fibroblastic (n=25), histiocytic (n=18), myofibroblastic (n=7), smooth muscle (n=14), and melanocytic (n=12) differentiations were immunostained with PGP9...
January 2017: Pathology
https://www.readbyqxmd.com/read/27913089/a-combined-one-stage-surgical-approach-of-orbital-tumor-debulking-lid-reconstruction-and-ptosis-repair-in-children-with-orbitotemporal-neurofibromatosis
#16
Shay Keren, Gad Dotan, Ran Ben-Cnaan, Leah Leibovitch, Igal Leibovitch
BACKGROUND AND AIM: To describe a series of children with neurofibromatosis type 1 (NF1) and a plexiform neurofibroma of the orbit with ptosis who underwent a combined one-stage surgery for tumor debulking, lid reconstruction, and ptosis repair. METHODS: A retrospective review of 6 cases of combined one-step surgeries for orbital plexiform neurofibroma with ptosis. RESULTS: The study included 6 children (4 boys, mean age 3.4 years). Follow-up time was at least 9 months...
November 11, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/27862945/analysis-of-copy-number-variants-in-11-pairs-of-monozygotic-twins-with-neurofibromatosis-type-1
#17
Emily R Sites, Teresa A Smolarek, Lisa J Martin, David H Viskochil, David A Stevenson, Nicole J Ullrich, Ludwine M Messiaen, Elizabeth K Schorry
Phenotypic variability among individuals with neurofibromatosis type 1 (NF1) has long been a challenge for clinicians and an enigma for researchers. Members of the same family and even identical twins with NF1 often demonstrate variable disease expression. Many mechanisms for this variability have been proposed. We have performed an exploratory study of copy number variants (CNVs) as a possible source of phenotypic variability in NF1. We enrolled 11 pairs of monozygotic (MZ) twins with NF1 and their parents, catalogued their clinical characteristics, and utilized a single nucleotide polymorphism (SNP) microarray to identify CNVs in blood and saliva...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27857458/magnetic-resonance-neurographic-confirmation-of-extensive-plexiform-neurofibroma-in-neurofibromatosis-1-presenting-as-ambiguous-genitalia
#18
Ishan Kumar, Ashish Verma, Ritu Ojha, Priyanka Aggarwal, Ram C Shukla, Arvind Srivastava
Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis. We report such a case of ambiguous genitalia in a 7-year-old female child presenting with clitoromegaly since birth, in which magnetic resonance imaging (MRI) revealed the presence of extensive neurofibromatosis in the clitoris and lumbosacral regions. We emphasize the central role of MRI in evaluation of hormonal and non-hormonal causes of ambiguous genitalia...
July 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/27833986/dermal-plexiform-spindle-cell-lipoma
#19
José Fernando Val-Bernal, Sandra Hermana
Spindle cell lipoma located in the dermis is uncommon. The plexiform variant of this tumor is rare. In fact, only six cases of this variant have been described previously. We report herein a case of dermal plexiform spindle cell lipoma with prominent myxoid matrix. A 47-year-old male patient presented with a solitary, 2.2 cm-cutaneous mass in the right buttock region that had slowly increased in size for over one year. The dermal lesion was characterized by a mixture of mature adipocytes, spindle shaped cells and inconspicuous ropey collagen bundles in a mucinous background...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27824540/plexiform-neurofibroma
#20
Satvinder Singh Bakshi
No abstract text is available yet for this article.
November 2016: Cleveland Clinic Journal of Medicine
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