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Plexiform schwannoma

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https://www.readbyqxmd.com/read/29427150/programmed-death-ligand-1-expression-and-tumor-infiltrating-lymphocytes-in-neurofibromatosis-type-1-and-2-associated-tumors
#1
Shiyang Wang, Benjamin Liechty, Seema Patel, Jeffrey S Weber, Travis J Hollmann, Matija Snuderl, Matthias A Karajannis
Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of cancers. Biomarker studies have found positive associations between clinical response rates and PD-L1 expression on tumor cells, as well as the presence of tumor infiltrating lymphocytes (TILs). It is currently unknown whether tumors associated with neurofibromatosis types 1 and 2 (NF1 and NF2) express PD-L1. We performed immunohistochemistry for PD-L1 (clones SP142 and E1L3N), CD3, CD20, CD8, and CD68 in NF1-related tumors (ten dermal and six plexiform neurofibromas) and NF2-related tumors (ten meningiomas and ten schwannomas) using archival formalin-fixed paraffin-embedded tissues...
February 9, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29322178/early-genetic-diagnosis-of-neurofibromatosis-type-2-from-skin-plaque-plexiform-schwannomas-in-childhood
#2
Elisabeth Castellanos, Adrià Plana, Cristina Carrato, Meritxell Carrió, Inma Rosas, Emilio Amilibia, Francesc Roca-Ribas, Cristina Hostalot, Alicia Castillo, Andrea Ros, Ariadna Quer, Juan Luis Becerra, Hector Salvador, Conxi Lázaro, Ignacio Blanco, Eduard Serra, Isabel Bielsa
Importance: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen in patients with NF2, normally appearing either at birth or early childhood, providing an opportunity for early NF2 detection and testing...
January 10, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29246097/neurofibromatosis-clinical-trial-consortium
#3
Roger J Packer, Michael J Fisher, Gary Cutter, Karen Cole-Plourde, Bruce R Korf
Neurofibromatosis type 1 and type 2, affecting both children and adults, often results in devastating complications. The rapid unravelling of the genetic underpinnings of these unique disorders has led to the development of novel therapies, especially molecular-targeted therapies. To facilitate clinical trial development, the Neurofibromatosis Clinical Trial Consortium (NFCTC) was established in 2006 by the Department of Defense. Over the past decade, the Consortium has successfully completed studies for children and adults with neurofibromatosis type 1 and plexiform neurofibromas, neurocognitive challenges, low-grade gliomas, and malignant peripheral nerve sheath tumors...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29179472/bcrp-expression-in-schwannoma-plexiform-neurofibroma-and-mpnst
#4
Maurits de Vries, Olaf van Tellingen, Andel G L van der Mey, Antonius M G Bunt, Inge Briaire-de Bruijn, Pancras C W Hogendoorn
Background: peripheral nerve sheath tumors comprise a broad spectrum of neoplasms. Vestibular schwannomas and plexiform neurofibromas are symptomatic albeit benign, but a subset of the latter pre-malignant lesions will transform to malignant peripheral nerve sheath tumors (MPNST). Surgery and radiotherapy are the primary strategies to treat these tumors. Intrinsic resistance to drug therapy characterizes all three tumor subtypes. The breast cancer resistance protein BCRP is a transmembrane efflux transporter considered to play a key role in various biological barriers such as the blood brain barrier...
October 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/29104109/aberrant-expression-of-thyroid-transcription-factor-1-in-schwannomas
#5
Dai-Zhong Wang, Ping Liu, Li Yao, Ying-Hua Hao, Rui-Juan Zhu, Tao Zhang, Xian-Bin Tang
Aberrant expression of thyroid transcription factor-1 (TTF-1) has been observed in tumors arising in locations other than thyroid gland, lung and ventral forebrain. However, TTF-1 expression in schwannomas has not yet been studied. Meanwhile, a few inconsistent changes in protein expression have been identified between schwannomas and other peripheral nerve sheath tumors. We evaluated TTF-1 expression in 161 schwannomas and 43 other peripheral nervous system lesions, including ganglioneuromas (n=8), malignant peripheral nerve sheath tumors (MPNSTs) (n=11), neurofibromas (n=24), and traumatic neuromas (n=9), using immunohistochemistry and verified it using quantitative real-time reverse transcription polymerase chain reaction (qPCR) to explore TTF-1 expression in peripheral nervous system lesions...
November 2, 2017: Human Pathology
https://www.readbyqxmd.com/read/28979871/plexiform-schwannoma-of-the-finger-a-case-report-and-literature-review
#6
Nafiseh Mortazavi, Kambiz Novin, Farahnaz Bidari Zerehpoosh, Managol Sadatsafavi
A 49-year-old woman with a long history of a subcutaneous mass on the dorsal side of her 4(th) finger of the right hand visited a dermatologist because of slight enlargement of the mass. Her past medical history was notable only for a mitral valvuloplasty performed 20 years earlier. Physical examination revealed a small, round, firm subcutaneous mass on the dorsal side of her proximal interphalangeal joint of the right 4(th) finger. The mass was immobile and nontender and its overlying skin was intact. An excisional biopsy was done for the patient and the specimen was sent for pathologic evaluation...
September 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28487042/recurrent-plexiform-schwannoma-involving-the-carotid-canal
#7
Kei Ijichi, Masahiro Muto, Ayako Masaki, Shingo Murakami
Plexiform schwannoma (PS) is a rare variety of benign nerve sheath tumor characterized by a multinodular plexiform growth pattern. PS is usually confined to the head and neck or skin. The pre-operative diagnosis of PS is difficult, and this has lead to a common misdiagnosis as a schwannoma. In addition, studies have indicated that an incomplete resection of PS often results in tumor recurrence. Here we describe a rare case of PS presented in the parapharyngeal space. Our case involved a 36-year-old man with swelling of the pharynx, who presented with a soft cervical mass...
May 6, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28420320/pediatric-non-vestibular-schwannoma
#8
Cory Broehm, Alyaa Al-Ibraheemi, Karen J Fritchie
While the clinicopathologic features of pediatric vestibular schwannomas, often in the context of neurofibromatosis type 2 (NF2), have been well studied, there is less data regarding the characteristics of pediatric non-vestibular schwannomas (NVS). Additionally, the rate of loss of SMARCB1/INI1 expression in this population has not been systematically evaluated. Our institutional archives were searched for cases of NVS arising in patients 18 years or younger. Clinicopathologic features including SMARCB1/INI1 status were assessed for each case...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28315612/ultrasound-assessment-of-peripheral-nerve-pathology-in-neurofibromatosis-type-1-and-2
#9
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...
May 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28235631/clinicopathological-features-of-peripheral-nerve-sheath-tumors-involving-the-eye-and-ocular-adnexa
#10
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. Most 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 PNST (n=1)...
May 2017: Human Pathology
https://www.readbyqxmd.com/read/27818132/plexiform-schwannoma-an-unusual-clitoral-mass
#11
Anne G Sammarco, Noor M Abualnadi, Elizabeth A Andraska, Paige V Tracy, Mitchell B Berger, Hope K Haefner
Acquired clitoral enlargement is a rare condition resulting from a variety of etiologies, including tumors and excess androgens. Few cases of nonmalignant schwannoma, a benign tumor of the peripheral nerve sheath, have been reported in the literature as causes of clitoral enlargement in patients without known neurofibromatosis. These painless, slow-growing tumors rarely recur once excised. We present the initial investigation of a patient with a large clitoral schwannoma and subsequent treatment with partial vulvectomy...
March 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27809595/plexiform-schwannoma-of-the-thoracolumbar-spine-a-rare-clinical-entity-a-case-report
#12
Victor Lam Shin Cheung, John Provias, Aleksa Cenic
Plexiform schwannomas are peripheral nerve sheath tumours rarely found in the spine. We present a case of a 65-year-old male with a spinal plexiform schwannoma in order to add to the general fund of knowledge regarding the natural history, diagnosis and surgical management of this extremely rare clinical entity.
April 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/27696205/gastric-plexiform-schwannoma-in-association-with-neurofibromatosis-type-2
#13
REVIEW
Satoru Kudose, Michael Kyriakos, Michael Magdi Awad
Plexiform schwannoma (PS) is an uncommon variant of schwannoma characterized by a multinodular (plexiform) growth pattern. It comprises up to 5 % of all schwannomas. The association between PS and neurofibromatosis type 1 or type 2 (NF1/NF2) is only rarely reported. Most cases of PS occur in the skin and subcutaneous soft tissue, with only a few reports of digestive tract involvement. We describe an 18-year-old male with NF2 who had bilateral vestibular schwannomas and multiple cutaneous PSs, and a 3-year history of abdominal pain...
December 2016: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/27402223/peripheral-nerve-sheath-tumors-arising-in-salivary-glands-a-clinicopathologic-study
#14
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
#15
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/26990975/loss-of-h3k27-tri-methylation-is-a-diagnostic-marker-for-malignant-peripheral-nerve-sheath-tumors-and-an-indicator-for-an-inferior-survival
#16
Arjen H G Cleven, Ghadah A Al Sannaa, Inge Briaire-de Bruijn, Davis R Ingram, Matt van de Rijn, Brian P Rubin, Maurits W de Vries, Kelsey L Watson, Kelia E Torres, Wei-Lien Wang, Sjoerd G van Duinen, Pancras C W Hogendoorn, Alexander J Lazar, Judith V M G Bovée
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that can show overlapping features with benign neurofibromas as well as high-grade sarcomas. Additional diagnostic markers are needed to aid in this often challenging differential diagnosis. Recently mutations in two critical components of the polycomb repressor 2 (PRC2) complex, SUZ12 and EED, were reported to occur specifically in MPNSTs while such mutations are absent in neurofibromas, both in the setting of neurofibromatosis (NF) and sporadic cases...
June 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/26960263/utility-of-positron-emission-tomography-in-schwannomatosis
#17
Bryan Lieber, ByoungJun Han, Jeffrey Allen, Girish Fatterpekar, Nitin Agarwal, Noojan Kazemi, David Zagzag
Schwannomatosis is characterized by multiple non-intradermal schwannomas with patients often presenting with a painful mass in their extremities. In this syndrome malignant transformation of schwannomas is rare in spite of their large size at presentation. Non-invasive measures of assessing the biological behavior of plexiform neurofibromas in neurofibromatosis type 1 such as positron emission tomography (PET), CT scanning and MRI are well characterized but little information has been published on the use of PET imaging in schwannomatosis...
August 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/26857854/methylation-based-classification-of-benign-and-malignant-peripheral-nerve-sheath-tumors
#18
Manuel Röhrich, Christian Koelsche, Daniel Schrimpf, David Capper, Felix Sahm, Annekathrin Kratz, Jana Reuss, Volker Hovestadt, David T W Jones, Melanie Bewerunge-Hudler, Albert Becker, Joachim Weis, Christian Mawrin, Michel Mittelbronn, Arie Perry, Victor-Felix Mautner, Gunhild Mechtersheimer, Christian Hartmann, Ali Fuat Okuducu, Mirko Arp, Marcel Seiz-Rosenhagen, Daniel Hänggi, Stefanie Heim, Werner Paulus, Jens Schittenhelm, Rezvan Ahmadi, Christel Herold-Mende, Andreas Unterberg, Stefan M Pfister, Andreas von Deimling, David E Reuss
The vast majority of peripheral nerve sheath tumors derive from the Schwann cell lineage and comprise diverse histological entities ranging from benign schwannomas and neurofibromas to high-grade malignant peripheral nerve sheath tumors (MPNST), each with several variants. There is increasing evidence for methylation profiling being able to delineate biologically relevant tumor groups even within the same cellular lineage. Therefore, we used DNA methylation arrays for methylome- and chromosomal profile-based characterization of 171 peripheral nerve sheath tumors...
June 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/26837650/dermal-and-subcutaneous-plexiform-soft-tissue-neoplasms
#19
Hillary Elwood, Janis Taube
This article presents an overview of soft tissue tumors that have a plexiform histomorphology. The more commonly encountered entities, including plexiform fibrohistiocytic tumor, cellular neurothekeoma, dermal nerve sheath myxoma, plexiform schwannoma, and plexiform neurofibroma, are discussed in detail, and other tumors are noted. Information on clinical features, microscopic findings, ancillary studies, differential diagnosis, and prognosis is provided for each entity.
September 2011: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/26424990/a-rare-case-of-plexiform-schwannoma-of-the-lower-lip-treatment-and-management
#20
Subha Dhua
An 18-year-old female presented with a swelling on the lower lip, which was insidious in onset and gradually progressive. The mass was completely excised under local anaesthesia. Complete histopathologic and immunohistochemical studies were conducted. The Antoni A areas were found along with typical verocay bodies composed of palisading nuclei and surrounding spaces filled with eosinophilic filaments. No necrosis was noted and there were no atypical mitotic figures. In the Antoni B region, a closely textured matrix with areas of edema, myxomatous changes, cystic degeneration and dilated vessels were noted...
May 2015: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
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