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Malignant nerve sheath tumor

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https://www.readbyqxmd.com/read/29033684/fluorine-18-2-fluoro-2-deoxy-d-glucose-positron-emission-tomography-computed-tomography-masquerading-as-a-case-of-sporadic-malignant-peripheral-nerve-sheath-tumor-of-lower-extremity-presenting-as-massive-lower-limb-edema
#1
Deepa Singh, Rajender Kumar, Ashim Das, Subhash C Varma, Bhagwant R Mittal
Malignant peripheral nerve sheath tumors (MPNSTs) are rare neuroectodermal tumors resulting from the malignant transformation of benign plexiform neurofibromas. The sporadic form of these tumors is rare than familial variants (seen in neurofibromatosis Type 1) and making the diagnosis difficult. We are presenting a case of 40--year-old female with the complaint of progressive swelling of lower limb with initial suspicion of lymphedema and underwent lymphoscintigraphy, magnetic resonance imaging, and finally fluorine-18-2-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography scans were done to rule out mitotic etiology and extent of the disease...
October 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29020982/the-prognostic-value-of-c-x-c-motif-chemokine-receptor-4-in-patients-with-sporadic-malignant-peripheral-nerve-sheath-tumors
#2
Chao Zhang, Fang-Yuan Chang, Wen-Ya Zhou, Ji-Long Yang
BACKGROUND: Recent studies indicate that C-X-C motif chemokine receptor 4 (CXCR4) and its ligand, C-X-C motif chemokine ligand 12 (CXCL12), stimulate expression of the cell cycle regulatory protein Cyclin D1 in neurofibromatosis 1-associated malignant peripheral nerve sheath tumor (MPNST) cells and promote their proliferation. In this study, we measured the expression of CXCR4, CXCL12, and Cyclin D1 proteins in sporadic MPNST tissues from Chinese patients and investigated their prognostic values...
October 11, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/28991373/novel-enriched-pathways-in-superficial-malignant-peripheral-nerve-sheath-tumors-mpnst-and-spindle-desmoplastic-melanomas-sdm
#3
George Jour, Nicole K Andeen, Rami Al -Rohil, Phyu P Aung, Meenakshi Mehrotra, Dzifa Duose, Benjamin Hoch, Zolt Argenyi, Rajyalakshmi Luthra, Ignacio I Wistuba, Victor G Prieto
Superficial malignant peripheral nerve sheath tumor (MPNST) is a rare, soft tissue neoplasm that shares morphological features and some molecular events with spindle and desmoplastic melanoma (SDM). Herein we sought to identify molecular targets for therapy using targeted RNA/DNA sequencing and gene expression of key immunological players. DNA and RNA from formalin-fixed, paraffin-embedded (FFPE) tissue were extracted and processed. Massive high-throughput deep parallel sequencing was performed using the Oncomine comprehensive panel enabling detection of relevant SNVs, CNVs, gene fusions, and indels from 143 unique genes on the Ion torrent sequencer for clinical trial research programs...
October 9, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28991098/five-year-old-boy-with-behavioral-changes-and-papilledema
#4
Radha Ram, Jeremy Y Jones, Carrie A Mohila, Veeral S Shah
A 5-year-old boy had initial symptoms of behavioral changes, nausea, vomiting, headache, weight loss, and progressive vision failure. Brain MRI revealed abnormal signal intensity in both optic nerves, the optic chiasm, the right medial temporal lobe, and tissues surrounding the right supraclinoid internal carotid artery with associated leptomeningeal and spinal cord enhancement. After nondiagnostic dural and spinal arachnoid biopsies, a temporal lobe biopsy was diagnostic for a rare malignant peripheral nerve sheath tumor...
October 5, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28976138/leiomyosarcoma-of-maxilla-a-case-report-with-review-of-literature
#5
Renuka Gupta, Madhusudan Astekar, Ramakant Dandriyal, Manjunath Bs
One challenging feature of head and neck pathology is that a dizzying array of spindle cell lesions occurs here which ranges all the way from reactive, very aggressive forms to malignant lesions. Leiomyosarcoma is one such malignant tumour of mesenchymal origin exhibiting smooth muscle differentiation; presenting generally nonspecific signs and symptoms. Here we present a case of leiomyosarcoma in a 21 year old female patient associated with single reddish pink swelling present in the posterior right maxillary tuberosity region with moderate facial asymmetry...
September 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28973692/malignant-peripheral-nerve-sheath-tumors-are-not-a-feature-of-neurofibromatosis-type-2-in-the-unirradiated-patient
#6
Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Simon K Lloyd, Simon R Freeman, Omar N Pathmanaban, Mark Kellett, Rupert Obholzer, Shazia Afridi, Patrick Axon, Dorothy Halliday, Allyson Parry, Owen M Thomas, Roger D Laitt, Martin G McCabe, Stavros Stivaros, Sara Erridge, D Gareth Evans
BACKGROUND: The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebellopontine angle nerve sheath tumors were malignant. OBJECTIVE: To determine whether MPNST occurred spontaneously in NF2 by reviewing our NF2 database. METHODS: The prospective database consists of 1253 patients with NF2...
July 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28939538/incremental-value-of-multiparametric-whole-body-mr-imaging-over-whole-spine-magnetic-resonance-imaging-in-neurofibromatosis-type-i-patients
#7
Lihua Zhang, Dessouky Riham, Yin Xi, Avneesh Chhabra, Lu Q Le
AIM: To determine the incremental value of multiparametric whole-body (WBMRI) over whole spine magnetic resonance imaging (WSMRI) in neurofibromatosis type1 (NF1) patients. METHODS: A consecutive series of 30 patients with known NF1 underwent WBMRI screening using anatomic, diffusion and contrast imaging over a 30-month period. 13/30 patients also had WSMRI. Tumors were classified per location and morphology and were software segmented to determine numbers and volumes...
September 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28926683/salvage-rates-and-prognostic-factors-after-relapse-in-children-and-adolescents-with-malignant-peripheral-nerve-sheath-tumors
#8
Luca Bergamaschi, Gianni Bisogno, Carla Manzitti, Paolo D'Angelo, Giuseppe Maria Milano, Angela Scagnellato, Mirko Cappelletti, Stefano Chiaravalli, Patrizia Dall'Igna, Rita Alaggio, Antonio Ruggiero, Martina Di Martino, Maria Carmen Affinita, Marta Pierobon, Alberto Garaventa, Michela Casanova, Andrea Ferrari
BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST) is one of the most common nonrhabdomyosarcoma soft tissue sarcomas encountered in pediatric age, and it is generally characterized by poor outcome, particularly for relapsing patients. MATERIALS AND METHODS: This study considered 73 patients <21 years of age with relapsing MPNST observed among 120 patients enrolled in Italian pediatric protocols from 1979 to 2004. With the aim of possibly establishing a risk-adapted stratification, patients' outcome was examined using univariate and multivariate analysis based on clinical features at onset, first-line treatments, clinical findings at the time of first relapse, and second-line treatments...
September 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28924675/malignant-triton-tumor-grand-round-presentation-of-a-rare-aggressive-case-thoracolumbar-spine-tumor
#9
Soufiane Ghailane, Sandra Fauquier, Sébastien Lepreux, Jean-Charles Le Huec
INTRODUCTION: We report a rare and aggressive case of malignant triton tumor (MTT) at the thoracolumbar junction with foraminal extension mistreated as schwannoma. MATERIALS AND METHODS: A 70-year-old man with a 2-year history of lower back pain and left L4 radiculopathy with no history of neurofibromatosis. RESULTS: Pre-operative MRI suggested a typical schwannoma. Upon complete marginal resection, histological findings revealed a MTT. The patient presented with a local and regional recurrence and died 10 months after surgery...
September 18, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28914875/-a-malignant-peripheral-nerve-sheath-tumor-developed-from-the-auditory-nerve-a-case-report-and-a-literature-review
#10
V N Shimanskiy, K V Shevchenko, M V Ryzhova, S V Tanyashin, D A Odamanov, V K Poshataev
We present a rare clinical case of a patient with a malignant peripheral nerve sheath tumor developed from the auditory nerve as well as a literature review, including 30 reported cases of this disease.
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/28903419/development-of-zebrafish-medulloblastoma-like-pnet-model-by-talen-mediated-somatic-gene-inactivation
#11
Jaegal Shim, Jung-Hwa Choi, Moon-Hak Park, Hyena Kim, Jong Hwan Kim, Seon-Young Kim, Dongwan Hong, Sunshin Kim, Ji Eun Lee, Cheol-Hee Kim, Jeong-Soo Lee, Young-Ki Bae
Genetically engineered animal tumor models have traditionally been generated by the gain of single or multiple oncogenes or the loss of tumor suppressor genes; however, the development of live animal models has been difficult given that cancer phenotypes are generally induced by somatic mutation rather than by germline genetic inactivation. In this study, we developed somatically mutated tumor models using TALEN-mediated somatic gene inactivation of cdkn2a/b or rb1 tumor suppressor genes in zebrafish. One-cell stage injection of cdkn2a/b-TALEN mRNA resulted in malignant peripheral nerve sheath tumors with high frequency (about 39%) and early onset (about 35 weeks of age) in F0 tp53(e7/e7) mutant zebrafish...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28900340/primary-intraosseous-malignant-peripheral-nerve-sheath-tumor-of-metacarpal-bones-of-the-hand-in-a-patient-without-neurofibromatosis-1-report-of-a-rare-case
#12
Bharti Devnani, Ahitagni Biswas, Sameer Bakhshi, Shah Alam Khan, Asit Ranjan Mridha, Shipra Agarwal
Malignant peripheral nerve sheath tumor (MPNST) usually arises in peripheral nerve sheath cells. The intraosseous location of MPNST is rare. Mandible is the most common site of bony involvement. Involvement of bones of the hand is quite unusual. We report a case of MPNST involving metacarpal bones of the left hand treated with surgery followed by adjuvant radiation and chemotherapy and review the pertinent literature.
April 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28898989/role-of-histone-h3k27-trimethylation-loss-as-a-marker-for-malignant-peripheral-nerve-sheath-tumor-in-fine-needle-aspiration-and-small-biopsy-specimens
#13
Jeffrey K Mito, Xiaohua Qian, Leona A Doyle, Jason L Hornick, Vickie Y Jo
Objectives: Accurate diagnosis of malignant peripheral nerve sheath tumor (MPNST) is often challenging on fine-needle aspiration (FNA) or core needle biopsy. Recurrent mutations in EED and SUZ12, which encode subunits of polycomb repressive complex 2 (PRC2), have been identified in 70% to 92% of MPNSTs; PRC2 inactivation leads to loss of trimethylation of lysine 27 of histone H3 (H3K27me3). We evaluated the utility of H3K27me3 immunohistochemistry for distinguishing MPNST from its cytomorphologic mimics...
August 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28885122/clinicopathological-variables-of-sporadic-schwannomas-of-peripheral-nerve-in-291-patients-and-expression-of-biologically-relevant-markers
#14
Eric D Young, Davis Ingram, William Metcalf-Doetsch, Dilshad Khan, Ghadah Al Sannaa, Francois Le Loarer, Alexander J F Lazar, John Slopis, Keila E Torres, Dina Lev, Raphael E Pollock, Ian E McCutcheon
OBJECTIVE While sporadic peripheral schwannomas (SPSs) are generally well treated with surgery, their biology is not well understood. Consequently, treatment options are limited. The aim of this study was to provide a comprehensive description of SPS. The authors describe clinicopathological features and treatment outcomes of patients harboring these tumors, and they assess expression of biomarkers using a clinically annotated tissue microarray. Together, these data give new insight into the biology and management of SPS...
September 8, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28884110/malignant-triton-tumor-a-rare-cause-of-sciatic-pain-and-foot-drop
#15
Maribel R Gomes, Alexandre M P Sousa, Roberto J A Couto, Marco M B Oliveira, João L M Moura, Carlos A Vilela
Malignant peripheral nerve sheath tumors (MPNST) are very rare and are frequently localized in the buttocks, thigh, arm, or paraspinal region; one variant is the malignant Triton tumor, with rhabdomyosarcomatous differentiation. The authors present a challenging differential diagnosis of a sciatic pain and foot drop in a woman with history of lumbar disk herniation, which was found to be caused by a Triton tumor of the sciatic nerve. She underwent surgical excision, followed by radiation and chemotherapy. Malignant Triton tumor cases have rarely been described and reported in the literature...
June 2017: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/28876532/successful-treatment-with-doxorubicin-and-ifosfamide-for-mediastinal-malignant-peripheral-nerve-sheath-tumor-with-loss-of-h3k27me3-expression
#16
Noriko Seno, Toshirou Fukushima, Daisuke Gomi, Takashi Kobayashi, Nodoka Sekiguchi, Hidehiro Matsushita, Takesumi Ozawa, Yoshiko Tsukahara, Keiko Mamiya, Tomonobu Koizumi, Kenji Sano
Malignant peripheral nerve sheath tumor (MPNST) in the thorax is an extremely rare disease, and half of all cases of MPNST are associated with neurofibromatosis type I. Sporadic intrathoracic MPNST is difficult to diagnose and treat. Because of the rarity of intrathoracic MPNST, the optimal method of diagnosis and the efficacy of chemotherapy are unknown. Herein, we present a case of inoperable mediastinal MPNST, in which the diagnosis was immunohistochemically made by the loss of H3K27me3 expression in a transbronchial needle biopsy specimen...
September 6, 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/28870819/-type-1-neurofibromatosis-onset-of-two-tumors-before-the-age-of-5years
#17
M Remillieux, C Durand, H Sartelet, C Piolat, E Bourgeois, P Pommier, F Hameury, K Dieterich, D Vidaud, C Perret
Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant genetic disorder that predisposes to the development of benign and malignant tumors. Mutation of the NF1 gene affects the RAS-MAPK signaling pathway and leads to a dysfunction in cell proliferation and induces tumor development. Epidemiology of cancer in children with NF1 is very different from the general pediatric population, which requires regular and specific monitoring. Neurofibroma is the most frequent benign tumor. It can be very invalidating depending on the size and location of the tumor...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28859862/the-promise-of-signal-transduction-in-genetically-driven-sarcomas-of-the-nerve
#18
REVIEW
AeRang Kim, Christine A Pratilas
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome. Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft tissue sarcomas arising from peripheral nerve sheaths, and the most commonly lethal feature associated with NF1. The hallmark of NF1 and NF1-related MPNST is the loss of neurofibromin expression. Loss of neurofibromin is considered a tumor-promoting event, and leads to constitutive activation of RAS and its downstream effectors. However, RAS activation alone is not sufficient for MPNST formation, and additional tumor suppressors and signaling pathways have been implicated in tumorigenesis of MPNST...
August 30, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28855982/peritoneal-metastases-of-rare-carcinomas-treated-with-cytoreductive-surgery-and-hipec-a-single-center-case-series
#19
Andreas Brandl, Christina Barbara Zielinski, Wieland Raue, Johann Pratschke, Beate Rau
INTRODUCTION: In selected cases, cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) is an established treatment for patients suffering from peritoneal metastases from colorectal, ovarian, gastric or appendiceal origin. The effectiveness of this extensive has not been elucidated within other rare diseases by now. METHODS: We conducted a retrospective analysis of patients treated with CRS for peritoneal carcinomatosis during the period between July 2010 and September 2015...
October 2017: Annals of Medicine and Surgery
https://www.readbyqxmd.com/read/28846462/immunohistochemical-markers-for-prospective-studies-in-neurofibromatosis-1-porcine-models
#20
David K Meyerholz, Georgina K Ofori-Amanfo, Mariah R Leidinger, J Adam Goeken, Rajesh Khanna, Jessica C Sieren, Benjamin W Darbro, Dawn E Quelle, Jill M Weimer
Neurofibromatosis type 1 (NF1) is a common, cancer-predisposing disease caused by mutations in the NF1 tumor gene. Patients with NF1 have an increased risk for benign and malignant tumors of the nervous system (e.g., neurofibromas, malignant peripheral nerve sheath tumors, gliomas) and other tissues (e.g., leukemias, rhabdomyosarcoma, etc.) as well as increased susceptibility to learning disabilities, chronic pain/migraines, hypertension, pigmentary changes, and developmental lesions (e.g., tibial pseudoarthrosis)...
October 2017: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
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