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Plexiform Neurofibroma

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https://www.readbyqxmd.com/read/28089105/selumetinib-for-children-with-plexiform-neurofibromas
#1
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
#2
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
#3
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
#4
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
#5
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...
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
Satvinder Singh Bakshi
No abstract text is available yet for this article.
November 2016: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/27817916/orbital-periorbital-plexiform-neurofibromas-in-children-with-neurofibromatosis-type-1-multidisciplinary-recommendations-for-care
#13
Robert A Avery, James A Katowitz, Michael J Fisher, Gena Heidary, Eva Dombi, Roger J Packer, Brigitte C Widemann
TOPIC: Children and adults with neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a variety of ophthalmologic conditions. Plexiform neurofibromas (PNs) involving the eyelid, orbit, periorbital, and facial structures (orbital-periorbital plexiform neurofibroma [OPPN]) can result in significant visual loss in children. Equally important, OPPNs can cause significant alteration in physical appearance secondary to proptosis, ptosis, and facial disfigurement, leading to social embarrassment and decreased self-esteem...
January 2017: Ophthalmology
https://www.readbyqxmd.com/read/27816720/multivacuolated-mucin-filled-cells-a-unique-cell-characteristic-of-plexiform-neurofibroma-a-report-of-11-cases
#14
Michael Michal, Dmitry V Kazakov, Ladislav Hadravský, Květoslava Michalová, Boris Rychlý, Michal Michal
The authors present 11 cases of plexiform neurofibroma (PN) that featured a very characteristic type of cell appearing as multivacuolated mucin-filled cells (MMFC). The 11 cases were obtained after reviewing 109 cases of PN. Six out of 10 patients showed clinical features of neurofibromatosis type 1 (NF1). The size of PN ranged from 0.8 cm to 11.5 cm in the largest dimension. The lesions represented classical PN in all cases with myxoid, hypocellular stroma. The MMFC were found within the most myxoid tumorous nodules and were haphazardly located, typically featuring a variably sized, multivacuolated cytoplasm divided by a fine septa with a small polygonal nucleus on one side, which was often compressed or slightly indented by the cytoplasmic mucous substances...
November 2, 2016: Human Pathology
https://www.readbyqxmd.com/read/27748759/egfr-stat3-signalling-in-nerve-glial-cells-modifies-neurofibroma-initiation
#15
J Wu, W Liu, J P Williams, N Ratner
Neurofibromatosis type 1 (NF1) is an inherited disease in which affected patients are predisposed to develop benign Schwann cell (SC) tumours called neurofibromas. In the mouse, loss of Nf1 in the SC lineage causes neurofibroma formation. The tyrosine kinase receptor EGFR is expressed in Schwann cell precursors (SCP), which have been implicated in plexiform neurofibroma initiation. To test if EGFR activity affects neurofibroma initiation, size, and/or number, we studied mice expressing human EGFR in SCs and SCP in the context of mice that form neurofibromas...
October 17, 2016: Oncogene
https://www.readbyqxmd.com/read/27666764/low-grade-schwann-cell-neoplasms-with-leptomeningeal-dissemination-clinicopathologic-and-autopsy-findings
#16
Erika F Rodriguez, Jaishri Blakeley, Shannon Langmead, Alessandro Olivi, Anthony Tufaro, Abeer Tabbarah, Gail Berkenblit, Justin M Sacks, Scott D Newsome, Elizabeth Montgomery, Fausto J Rodriguez
Leptomeningeal dissemination of low grade Schwann cell neoplasms is an exceptionally rare occurrence, and has not been well documented in the literature. We encountered two cases of leptomeningeal dissemination of low grade Schwann cell neoplasms. Patient 1 was a 63-year-old woman with NF1 and a progressive low grade MPNST developing from a diffuse/plexiform orbital neurofibroma that arose in childhood. The neoplasm demonstrated local and leptomeningeal dissemination intracranially leading to the patient's death...
September 22, 2016: Human Pathology
https://www.readbyqxmd.com/read/27666129/using-a-qualitative-approach-to-conceptualize-concerns-of-patients-with-neurofibromatosis-type-1-associated-plexiform-neurofibromas-pnf-across-the-lifespan
#17
Jin-Shei Lai, Sally E Jensen, Zabin S Patel, Robert Listernick, Joel Charrow
Neurofibromatosis Type 1 (NF1) plexiform neurofibromas (pNFs) are associated with a variety of symptoms and concerns that affect patients' quality of life (QOL), highlighting the value of incorporating the patients' perspective when evaluating treatment outcomes. To better conceptualize the experience of patients with pNFs, this qualitative study sought to identify the most important outcomes to assess from the perspective of patients, families, and clinicians. Clinicians, patients age 5 years old and above, and parents of patients aged 5-17 years participated in semi-structured interviews to elicit the pNF symptoms/concerns considered most important to assess...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27641440/unusual-location-of-a-plexiform-neurofibroma-in-the-fallopian-tube-a-case-report
#18
Piotr Czuczwar, Anna Stepniak, Piotr Szkodziak, Agnieszka Korolczuk, Tomasz Paszkowski, Slawomir Wozniak
It is rare for neurofibromatosis to occur in the female genital tract. We report a case of a plexiform neurofibroma in the left fallopian tube in a 50-year-old postmenopausal woman. The initial diagnosis was a pedunculated leiomyoma or a fallopian tube tumor. Laparotomy was performed and a solid mass approximately 90 x 60 x 40 mm in size was found in the left fallopian tube. Total abdominal hysterectomy and bilateral salpingo-oophorectomy with an appendectomy, lymphadenectomy and omentectomy was performed. The histopathological diagnosis was plexiform neurofibroma...
November 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27617404/immortalization-of-human-normal-and-nf1-neurofibroma-schwann-cells
#19
Hua Li, Lung-Ji Chang, Debbie R Neubauer, David F Muir, Margaret R Wallace
Neurofibromas, which are benign Schwann cell tumors, are the hallmark feature in the autosomal dominant condition neurofibromatosis 1 (NF1) and are associated with biallelic loss of NF1 gene function. There is a need for effective therapies for neurofibromas, particularly the larger, plexiform neurofibromas. Tissue culture is an important tool for research. However, it is difficult to derive enriched human Schwann cell cultures, and most enter replicative senescence after 6-10 passages, impeding cell-based research in NF1...
October 2016: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/27527645/sleep-and-pulmonary-outcomes-for-clinical-trials-of-airway-plexiform-neurofibromas-in-nf1
#20
Scott R Plotkin, Stephanie D Davis, Kent A Robertson, Srivandana Akshintala, Julian Allen, Michael J Fisher, Jaishri O Blakeley, Brigitte C Widemann, Rosalie E Ferner, Carole L Marcus
OBJECTIVE: Plexiform neurofibromas (PNs) are complex, benign nerve sheath tumors that occur in approximately 25%-50% of individuals with neurofibromatosis type 1 (NF1). PNs that cause airway compromise or pulmonary dysfunction are uncommon but clinically important. Because improvement in sleep quality or airway function represents direct clinical benefit, measures of sleep and pulmonary function may be more meaningful than tumor size as endpoints in therapeutic clinical trials targeting airway PN...
August 16, 2016: Neurology
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