keyword
MENU ▼
Read by QxMD icon Read
search

Plexiform Neurofibroma

keyword
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
#1
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...
November 30, 2016: 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
November 3, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27816720/multivacuolated-mucin-filled-cells-a-unique-cell-characteristic-of-plexiform-neurofibroma-a-report-of-11-cases
#8
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
#9
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
#10
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
#11
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...
September 26, 2016: 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
#12
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...
September 19, 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27617404/immortalization-of-human-normal-and-nf1-neurofibroma-schwann-cells
#13
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
#14
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
https://www.readbyqxmd.com/read/27526236/initial-exploration-on-temporal-branch-of-facial-nerve-function-preservation-in-plexiform-neurofibroma-resection
#15
Xiaojie Hu, Melia Bogari, Andy Tan, Xiaoyan Gao, Yang Gao, Hui Chen, Wei Li, Yunbo Jin, Gang Ma, Xiaoxi Lin
BACKGROUND: Large temporal plexiform neurofibroma (PNF) is an irritating problem that causes facial disfigurement. Surgical resection of PNF is the only effective way to remove the tumor as well as to improve the patient's facial appearance. However, temporal branch of the facial nerve (TBFN) in the tumor is prone to be destroyed during PNF removal. Thus, TBFN palsy is the inevitable complication after surgery and might induce other malformation and dysfunction. Therefore, the aim of this study is to reconstruct a nearly normal face contour while preserving the facial nerve function...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27510726/phase-ii-trial-of-pegylated-interferon-alfa-2b-in-young-patients-with-neurofibromatosis-type-1-and-unresectable-plexiform-neurofibromas
#16
Regina I Jakacki, Eva Dombi, Seth M Steinberg, Stewart Goldman, Mark W Kieran, Nicole J Ullrich, Ian F Pollack, Anne Goodwin, Peter E Manley, Jason Fangusaro, Rudy Allen, Brigitte C Widemann
BACKGROUND: There is no proven medical therapy for plexiform neurofibromas (PNs). We undertook a phase II trial of pegylated interferon (PI) to evaluate response and time to progression (TTP). METHODS: PI was administered as a subcutaneous injection to patients with neurofibromatosis type 1‒related PN, stratified by the presence of symptoms (asymptomatic: stratum 1, symptomatic: stratum 2) or documented imaging progression (stratum 3). Patients in strata 1 and 2 received PI for up to one year if stable, 2 years for those with clinical (stratum 2) or imaging response (≥20% decrease in volume)...
August 10, 2016: Neuro-oncology
https://www.readbyqxmd.com/read/27487361/neurofibroma-around-the-ear-canal-report-of-three-cases
#17
Bülent Satar, Yusuf Hıdır, Mehmet Burak Aşık, Ümit Aydın, Mustafa Gerek, İbrahim Yavan
Facial nerve neurofibromas are an uncommon entity, particularly in the intraparotid region. Three cases are presented herein, including the first reported case of both an intratemporal and intraparotid facial nerve malignant neurofibroma. To the best of our knowledge, this is the first medical publication to describe a neurofibroma involving both the intratemporal and intraparotid regions. The aim of this clinical record was to present the surgical experiences in three cases of intratemporal and intraparotid facial neurofibroma...
August 2016: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/27402223/peripheral-nerve-sheath-tumors-arising-in-salivary-glands-a-clinicopathologic-study
#18
Sahejmeet S Guraya, Richard A Prayson
Primary salivary gland peripheral nerve sheath tumors (PNST) are uncommon. This study is a retrospective, clinicopathologic review of 9 cases of PNST (5 neurofibromas, 3 schwannomas and 1 malignant peripheral nerve sheath tumor (MPNST)) arising from the salivary glands, encountered between 1990 and 2015. All patients with neurofibromas were male (ages 1-62 years) and had a single parotid lesion of which 2 were diffuse, 2 plexiform and one mixed diffuse/plexiform. Four had a history of neurofibromatosis I. Four of 5 presented with symptoms related to mass effect including facial swelling, facial drooping, and dysphagia...
August 2016: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/27365950/morphological-spectrum-of-peripheral-nerve-sheath-tumors-an-insight-into-world-health-organization-2013-classification
#19
Panduranga Chikkannaiah, Mythri M Boovalli, Velusamy Nathiyal, Srinivasamurthy Venkataramappa
INTRODUCTION: Peripheral nerve sheath tumors (PNSTs) are neuroectodermal in origin. Now these tumors are classified under World Health Organization (WHO) classification of tumors of soft tissue and bone 2013. OBJECTIVE: To study the morphological spectrum of PNST and to study the secondary degenerative changes associated with it. MATERIALS AND METHODS: This study was conducted from January 2010 to June 2015. The gross details of tumor and patient's demographic profiles were reviewed...
July 2016: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/27363215/anesthetic-management-in-patient-with-neurofibromatosis-a-case-report-and-literature-review
#20
REVIEW
F T Mendonça, I Barreto de Moura, D Pellizzaro, B J Grossi, R Carvalho Diniz
OBJECTIVE: We report the anesthesia management of a 15 years-old patient with neurofibromatosis type 1, scheduled for resection of a tumor located in the occipitocervical region. In addition, we review the pertaining literature, emphasizing the anesthetic implications of neurofibromatosis manipulation. CASE : A 15-years-old female patient, with Neurofibromatosis type 1 was diagnosed with a large tumor in occipitocervical region suggestive of a plexiform neurofibroma. She presented with cervical instability, difficulty in positioning due to the large cervical mass and other predictors of airway difficulty...
2016: Acta Anaesthesiologica Belgica
keyword
keyword
74837
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"