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Neurofibromatosis type 1

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https://www.readbyqxmd.com/read/29140965/long-term-hearing-preservation-after-resection-of-vestibular-schwannoma-a-systematic-review-and-meta-analysis
#1
Syed F Ahsan, Farhan Huq, Michael Seidman, Andrew Taylor
OBJECTIVE: The objective is to perform a systematic review and meta-analysis of the literature on the long-term results of hearing preservation after vestibular schwannoma resection. DATA SOURCES: Ovid/Medline, PubMed, Embase, and the Cochrane library from January 1980 to January 2015. STUDY SELECTION: Inclusion criteria: age ≥18 years, minimum 10 patients in the treatment group, hearing preserving microsurgery, no previous radiation treatment, serviceable hearing at immediate postop follow-up, hearing outcomes reported using Gardner Robinson or the American Academy of Otolaryngology-Head and Neck Surgeons hearing grading scales, and average follow-up of 5 years...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29139585/metaplastic-spindle-cell-carcinoma-of-the-breast-in-a-patient-with-neurofibromatosis-type-1
#2
Han Shin Lee, Eun Jung Jung, Ju Yeon Kim, Eun Jin Song, Chi Young Jeong, Young Tae Ju, Young Joon Lee, Soon Chan Hong, Bo Hwa Choi, Hyang Im Lee
We report a unique case of a 67-year-old woman with neurofibromatosis type 1, who was also diagnosed with metaplastic spindle cell carcinoma of the left breast. She had many neurofibromatosis lesions on her body, as well as the mass in the left breast. After the breast mass was diagnosed as a malignant mesenchymal tumor by core needle biopsy, the patient underwent left modified radical mastectomy. Subsequently, the pathological analysis of the tumor showed it to be a metaplastic spindle cell carcinoma. The co-occurrence of neurofibromatosis type 1 and breast cancer, in particular metaplastic spindle cell carcinoma, is very rare...
November 15, 2017: Breast Journal
https://www.readbyqxmd.com/read/29139538/limitations-of-the-pax7-creer-t2-transgene-for-driving-deletion-of-nf1-in-adult-mouse-muscle
#3
Matthew A Summers, Kathy Mikulec, Lauren Peacock, David G Little, Aaron Schindeler
Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder that results in a variety of characteristic manifestations. Prior studies have shown reduced muscle size and global skeletal muscle weakness in children with NF1. This associated weakness can lead to significant challenges impacting on quality of life. Pre-clinical studies using a muscle-specific NF1 knockout mouse have linked this weakness to an underlying primary metabolic deficiency in the muscle. However, the neonatal lethality of this strain prevents analysis of the role of NF1 in adult muscle...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/29138703/malignant-peripheral-nerve-sheath-tumor-of-the-inguinum-and-angiosarcoma-of-the-scalp-in-a-child-with-neurofibromatosis-type-1
#4
Marija Milković Periša, Tihana Džombeta, Jasminka Stepan Giljević, Božo Krušlin
Benign and malignant tumors are common in the setting of neurofibromatosis type 1 (NF1). Malignant peripheral nerve sheath tumor (MPNST) and angiosarcoma are rare tumors in children and adolescents and mostly occur in young patients in relation to NF1. Both histological types can be present in the same tumor mass in patients with NF1. We present a case of 12.5-year-old girl with NF1 who first presented with MPNST of the right inguinal region and 1.5 years later with unrelated angiosarcoma of the scalp.
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/29138631/sarc006-phase-ii-trial-of-chemotherapy-in-sporadic-and-neurofibromatosis-type-1-associated-chemotherapy-naive-malignant-peripheral-nerve-sheath-tumors
#5
Christine S Higham, Seth M Steinberg, Eva Dombi, Arie Perry, Lee J Helman, Scott M Schuetze, Joseph A Ludwig, Arthur Staddon, Mohammed M Milhem, Daniel Rushing, Robin L Jones, Michael Livingston, Stewart Goldman, Christopher Moertel, Lars Wagner, David Janhofer, Christina M Annunziata, Denise Reinke, Lauren Long, David Viskochil, Larry Baker, Brigitte C Widemann
Background: Worse chemotherapy response for neurofibromatosis type 1- (NF1-) associated compared to sporadic malignant peripheral nerve sheath tumors (MPNST) has been reported. Methods: We evaluated the objective response (OR) rate of patients with AJCC Stage III/IV chemotherapy-naive NF1 MPNST versus sporadic MPNST after 4 cycles of neoadjuvant chemotherapy, 2 cycles of ifosfamide/doxorubicin, and 2 cycles of ifosfamide/etoposide. A Simon optimal two-stage design was used (target response rate 40%)...
2017: Sarcoma
https://www.readbyqxmd.com/read/29137312/neurofibromatosis-type-1-is-a-prognostic-indicator-in-human-gastric-carcinoma
#6
Debao Liu, Yueying Zhang, Yan Li, Kaixi Fan
We investigated whether the Neurofibromatosis type-1(NF1) gene was of prognostic relevance to gastric cancer (GC) patients. Immunohistochemical staining of 160 matched GC tumor and adjacent normal tissue samples showed that 58.1% (93/160) of GC samples were NF1-positive as compared to 94.4% (151/160) of normal tissue samples (χ(2)=58.05, P <0.001). qRT-PCR analysis revealed that NF1 mRNA expression is lower in GC tissues than normal tissues (χ(2)=34.23, P <0.001). Moreover, NF1 protein and mRNA levels were associated with T stage (P <0...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29137242/immune-profiling-of-nf1-associated-tumors-reveals-histologic-subtype-distinctions-and-heterogeneity-implications-for-immunotherapy
#7
Kellie B Haworth, Michael A Arnold, Christopher R Pierson, Kwangmin Choi, Nicholas D Yeager, Nancy Ratner, Ryan D Roberts, Jonathan L Finlay, Timothy P Cripe
Successful treatment of neurofibromatosis type 1 (NF1)-associated tumors poses a significant clinical challenge. While the primary underlying genetic defect driving RAS signaling is well described, recent evidence suggests immune dysfunction contributes to tumor pathogenesis and malignant transformation. As immunologic characterizations, prognostic and predictive of immunotherapeutic clinical response in other cancers, are not fully described for benign and malignant NF1-related tumors, we sought to define their immunologic profiles...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29131833/mek-inhibitors-enhance-therapeutic-response-towards-atra-in-nf1-associated-malignant-peripheral-nerve-sheath-tumors-mpnst-in-vitro
#8
Susan Fischer-Huchzermeyer, Anna Dombrowski, Gordon Wilke, Verena Stahn, Anna Streubel, Victor Felix Mautner, Anja Harder
OBJECTIVE: Neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome characterized by an increased risk of malignant peripheral nerve sheath tumors (MPNST). Chemotherapy of MPNST is still insufficient. In this study, we investigated whether human tumor Schwann cells derived from NF1 associated MPNST respond to all-trans retinoic acid (ATRA). We analyzed effects of ATRA and MEK inhibitor (MEKi) combination therapy. METHODS: MPNST cell lines S462, T265, NSF1 were treated with ATRA and MEKi U0126 and PD0325901...
2017: PloS One
https://www.readbyqxmd.com/read/29130106/molecular-alterations-of-the-nf2-gene-in-hepatocellular-carcinoma-and-intrahepatic-cholangiocarcinoma
#9
Ning Zhang, Zhang Zhao, Jiang Long, Hai Li, Bei Zhang, Guangyong Chen, Xiaojin Li, Tingxia Lv, Wei Zhang, Xiaojuan Ou, Anjian Xu, Jian Huang
Neurofibromatosis type 2 with mutations in the neurofibromin 2 (NF2) gene, encoding the Merlin protein, is an autosomal dominant disorder characterized by enhanced cancer predisposition, particularly tumors of the central nervous system. Recent animal studies indicate that disruption of NF2/Merlin function in oval cells, which are hepatic progenitor cells, may lead to the development of primary liver cancers including hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC); however, its role in human primary liver cancer remains unclear...
December 2017: Oncology Reports
https://www.readbyqxmd.com/read/29127250/malignant-peripheral-nerve-sheath-tumours-of-the-pericardium-in-a-patient-with-neurofibromatosis-type-1-the-diagnostic-value-of-18f-fdg-pet-ct-and-i-123-mibg-spect-ct
#10
Mathieu Charest, Josephine Pressacco, Jaramie Thomas-Gittens
A 25 year old female with known neurofibromatosis type 1 with a large anterior mediastinal mass was investigated. F18-FDG PET-CT revealed a radiotracer avid anterior mediastinal mass with SUVmax of 4.3 and demonstrating a hypoactive center. The Iodine-123 MIBG SPECT-CT study performed subsequently did not demonstrate any uptake, thereby excluding for the most part the diagnoses of paraganglioma or neuroblastoma. At final pathology, a malignant peripheral nerve sheath tumour (MPNST) of the pericardium with areas of chondrosarcomatous and angiosarcomatous differentiation was diagnosed...
November 10, 2017: Journal of Nuclear Medicine Technology
https://www.readbyqxmd.com/read/29125145/the-2017-doyne-lecture-the-orbit-as-a-window-to-systemic-disease
#11
REVIEW
A A McNab
A very large number of disorders affect the orbit, and many of these occur in the setting of systemic disease. This lecture covers selected aspects of orbital diseases with systemic associations in which the author has a particular clinical or research interest. Spontaneous orbital haemorrhage often occurs in the presence of bleeding diatheses. Thrombosis of orbital veins and ischaemic necrosis of orbital and ocular adnexal tissues occur with thrombophilic disorders, vasculitis, and certain bacterial and fungal infections...
November 10, 2017: Eye
https://www.readbyqxmd.com/read/29118993/cellular-characteristics-of-keratin-19-positive-canine-hepatocellular-tumours-explain-its-aggressive-behaviour
#12
Renee G van Sprundel, Ted Sgam van den Ingh, Baukje A Schotanus, Monique E van Wolferen, Louis C Penning, Jan Rothuizen, Bart Spee
The expression of the hepatic progenitor cell marker keratin 19 (K19) in canine hepatocellular carcinomas is linked with a poor prognosis. To better understand this aggressive behaviour, K19-positive hepatocellular carcinomas (n=5) and K19-negative hepatocellular adenomas (n=6) were immunohistochemically stained for proteins involved in malignant tumour development. The K19-positive carcinomas showed marked positivity for platelet-derived growth factor receptor alpha polypeptide (PDGFRα), laminin, integrin beta-1/CD29, B-cell-specific Moloney murine leukaemia virus Integration site 1, glypican-3 (GPC-3) and prominin-1/CD133, in contrast with K19-negative hepatocellular adenomas...
2017: Veterinary Record Open
https://www.readbyqxmd.com/read/29118304/pediatric-optic-pathway-hypothalamic-glioma
#13
Yasuo Aihara, Kentaro Chiba, Seiichiro Eguchi, Kosaku Amano, Takakazu Kawamata
Optic pathway/hypothalamic gliomas (OP/HGs) are rare astrocytic tumors that appear more commonly among young children and often are unresectable. They comprise approximately 2% of all central nervous system tumors and account for 3-5% of pediatric intracranial tumors. Initial manifestations are often visual disturbances, endocrinopathies and hypothalamic dysfunction such as the diencephalic syndrome, and sometimes hydrocephalus due to cerebrospinal fluid (CSF) outflow obstruction. In many cases, the tumors are diagnosed late in the clinical course because they silently enlarge...
November 9, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/29117388/neurofibromatosis-type-1-associated-mpnst-state-of-the-science-outlining-a-research-agenda-for-the-future
#14
Karlyne M Reilly, AeRang Kim, Jaishri Blakely, Rosalie E Ferner, David H Gutmann, Eric Legius, Markku M Miettinen, R Lor Randall, Nancy Ratner, N L Jumbé, Annette Bakker, David Viskochil, Brigitte C Widemann, Douglas R Stewart
Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma for which the only effective therapy is surgery. In 2016, an international meeting entitled "MPNST State of the Science: Outlining a Research Agenda for the Future" was convened to establish short- and long-term research priorities. Key recommendations included the: 1) development of standardized, cost-efficient fluorodeoxyglucose positron emission tomography and whole-body magnetic resonance imaging guidelines to evaluate masses concerning for MPNST; 2) development of better understanding and histologic criteria for the transformation of a plexiform neurofibroma to MPNST; 3) establishment of a centralized database to collect genetic, genomic, histologic, immunohistochemical, molecular, radiographic, treatment, and related clinical data from MPNST subspecialty centers in a standardized manner; 4) creation of accurate mouse models to study the plexiform neurofibroma-to-MPNST transition, MPNST metastasis, and drug resistance; 5) use of trial designs that minimize regulatory requirements, maximize availability to patients, consider novel secondary end points, and study patients with newly diagnosed disease...
August 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29114311/giant-cell-glioblastoma-in-a-child-with-clinical-and-family-history-of-neurofibromatosis
#15
Ishita Pant, Wajid Nazir, Vinita Ujjawal, Sujata Chaturvedi
We report a case of giant cell glioblastoma (GCG) in a 13-year-old child with clinical features and family history of neurofibromatosis type 1 (NF1). To the best of our knowledge, only two cases of GCG have been reported in a scenario of NF1, and only one of that was in a pediatric age group. A report on our case is presented here along with a review of literature.
October 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29111114/motor-dysfunction-in-nf1-mediated-by-attention-deficit-or-inherent-to-the-disorder
#16
Karin Haas-Lude, Magdalena Heimgärtner, Sarah Winter, Victor-Felix Mautner, Ingeborg Krägeloh-Mann, Karen Lidzba
AIM: Attention deficit and compromised motor skills are both prevalent in Neurofibromatosis type 1 (NF1), but the relationship is unclear. We investigated motor function in children with NF1 and in children with Attention Deficit/Hyperactivity Disorder (ADHD), and explored if, in patients with NF1, attention deficit influences motor performance. METHODS: Motor performance was measured using the Movement Assessment Battery for Children (M-ABC) in 71 children (26 with NF1 plus ADHD, 14 with NF1 without ADHD, and 31 with ADHD without NF1) aged 6-12 years...
October 20, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29109888/melanotic-schwannomas-are-rarely-seen-pigmented-tumors-with-unpredictable-prognosis-and-challenging-diagnosis
#17
Elif Keskin, Sumeyye Ekmekci, Ozgur Oztekin, Gulden Diniz
Melanotic Schwannoma (MS) is rarely seen and potentially malignant neoplasm that is categorized as a variant of Schwannoma. MS most frequently involves intracranial structures followed by posterior nerve roots in the spinal canal. Approximately 50% of the cases with MS have psammomatous calcifications and this type of MS is related to Carney complex with autosomal dominant inheritance. Most cases of MS are benign, though 10% of them are malignant with metastatic potential. MS mimics melanoma and the differential diagnosis should be made excluding other melanin producing neoplasms especially melanoma...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/29107435/growing-cyst-like-white-matter-lesions-in-children-with-neurofibromatosis-type-1
#18
Ji Eun Kim, Jung-Eun Cheon, In-One Kim, Young-Hun Choi, Woo Sun Kim
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with prominent neurocutaneous manifestations. The most common intracranial imaging finding of NF1 on brain magnetic resonance imaging (MRI) is the high-signal intensity foci without a mass effect or growth in size. PATIENT DESCRIPTION: We describe two children with NF1 in whom brain MRI showed growing cystic lesions and adjacent white matter signal abnormalities, which were confirmed as non-neoplastic cystic degeneration and reactive gliosis...
August 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29102976/giant-phaeochromocytoma-presenting-with-an-acute-stroke-reappraising-phaeochromocytoma-surveillance-for-the-neurofibromatosis-type-1-phakomatosis
#19
Yingshan Lee, Leon Yuan Rui Tan, Yong Howe Ho, Melvin Khee Shing Leow
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder associated with reduced lifespan attributed largely to malignancy and vascular causes. One of the tumours associated with NF1 is phaeochromocytoma. The phaeochromocytoma has earned the moniker, a 'great mimicker', due to its varied means of presentation. We present a patient with NF1 who was diagnosed with a giant 20 cm phaeochromocytoma after suffering from an ischaemic stroke. Current guidelines do not advocate surveillance of phaeochromocytoma in asymptomatic patients with NF1, unlike other genetic syndromes associated with phaeochromocytoma...
November 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29099382/-neurofibromas-in-the-urogenital-system-report-of-two-cases-and-literature-review
#20
María Asunción Costa-Martínez, Matías Prieto Vita, Liliana Elisabeth Garcés Proaño, Carlos Carro Rubias, Manuel Ángel Ortiz Gorraiz, Ernesto De Nova Sánchez
OBJECTIVE: We introduce two cases of a 46 and 66-year-old patient, both diagnosed with pelvic neurofibroma (One located in a seminal vesicle, the other in the bladder). The first patient had been diagnosed with Neurofibromatosis type 1 while the other was diagnosed with a sporadic neurofibroma. METHODS: During a study for lower urinary tract symptoms referred, these patients were diagnosed seminal vesicle and bladder neurofibroma, respectively, using image and histological tests...
November 2017: Archivos Españoles de Urología
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