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https://www.readbyqxmd.com/read/28162254/medical-treatment-in-neurofibromatosis-type-2-review-of-the-literature-and-presentation-of-clinical-reports
#1
S Goutagny, M Kalamarides
The understanding of the molecular pathways underlying tumor development in neurofibromatosis type 2 (NF2) is increasing. Thus, repositioning drugs, drug therapies that are already clinically available for various cancers, appear potentially promising for NF2 patients. Based on preclinical data from in vitro or animal models, five different treatments have been proposed for selected NF2 cases. Evaluation of bevacizumab, a monoclonal antibody against VEGF has mainly been reported in retrospective studies; it has been reported to induce hearing improvement and tumor shrinkage in more than 50% of progressive vestibular schwannomas (VS)...
February 2, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28135565/dissecting-clinical-heterogeneity-in-neurofibromatosis-type-1
#2
Courtney L Monroe, Sonika Dahiya, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected children and adults are predisposed to the development of benign and malignant nervous system tumors. Caused by a germline mutation in the NF1 tumor suppressor gene, individuals with NF1 are prone to optic gliomas, malignant gliomas, neurofibromas, and malignant peripheral nerve sheath tumors, as well as behavioral, cognitive, motor, bone, cardiac, and pigmentary abnormalities. Although NF1 is a classic monogenic syndrome, the clinical features of the disorder and their impact on patient morbidity are variable, even within individuals who bear the same germline NF1 gene mutation...
January 24, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28134730/primary-cutaneous-follicular-helper-t-cell-lymphoma-in-a-patient-with-neurofibromatosis-type-1-case-report-and-review-of-the-literature
#3
REVIEW
Anastasia Shamsuyarova, Zaid Kamil, Jan Delabie, Nadya Al-Faraidy, Danny Ghazarian
Patients with neurofibromatosis type 1 (NF-1) have a well-known predisposition for certain types of malignancies, including lymphoproliferative disorders. Cutaneous T-cell lymphoma (CTCL) has been reported in patients with NF-1, although it is considered a rare entity in this subset of patients. Cutaneous follicular helper T-cell lymphoma (CTFHCL) is a recently emerged rare subtype of CTCL with peculiar clinical and histopathological features and represents a diagnostic and therapeutic challenge. Only a few cases of CTFHCL have been reported in the literature...
February 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28128429/-neurofibromatosis-type-2-in-childhood-a-clinical-characterization
#4
C M Hinojosa-Mateo, J A Reche-Sainz, A Hernandez-Nunez, M Ramos-Lopez, A Arpa-Fernandez, D Natera-de Benito
INTRODUCTION: Neurofibromatosis type 2 (NF2) is a dominantly inherited neuroectodermal syndrome that predispose to the development of tumors of the central and peripheral nervous system. Additional features include eye and skin abnormalities. CASE REPORT: A 12-year old male with diagnosis of MF2 according to Baser et al and presentation in childhood was included. A comprehensive bibliographic review of evolution of the diagnostic criteria for NF2 in children was performed...
February 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28123914/bevacizumab-for-treatment-refractory-pain-control-in-neurofibromatosis-patients
#5
Xu W Linda, Lawrence D Recht
Chronic pain is a well-known morbidity associated with neurofibromatosis (NF) for which better therapies are needed. Surgery, radiation, and pain medications have been utilized, but often fail to relieve debilitating pain. One patient at our institution was noted to have near complete resolution of pain after treatment with bevacizumab for progressive neurologic deficit associated with NF2, suggesting its potential as an effective pain control method. We aim to better characterize the use of bevacizumab for pain control in this subset of patients...
December 18, 2016: Curēus
https://www.readbyqxmd.com/read/28111791/association-between-juvenile-myelomonocytic-leukemia-juvenile-xanthogranulomas-and-neurofibromatosis-type-1-case-report-and-review-of-the-literature
#6
REVIEW
Samuel Paulus, Sandra Koronowska, Regina Fölster-Holst
The occurrence of juvenile myelomonocytic leukemia (JMML), juvenile xanthogranuloma (JXG), and neurofibromatosis type 1 (NF1) together is relatively rare. Approximately only 20 cases have been reported in the literature. It is debated whether children with NF1 and JXG are at higher risk of developing JMML than children with NF1 alone. We present the case of a boy primarily diagnosed with NF1 with coexisting JXG who developed JMML at the age of 22 months. The clinical course from initial presentation to final diagnosis is detailed and the genetic features and hematologic characteristics are discussed...
January 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28098509/-compassionate-use-protocol-for-auditory-brainstem-implantation-in-neurofibromatosis-type-2-early-house-ear-institute-experience
#7
Daniel S Roberts, William H Slattery, Brian S Chen, Steve R Otto, Marc S Schwartz, Gregory P Lekovic
OBJECTIVE: To report the preliminary outcomes of auditory brainstem implantation (ABI) under a compassionate use protocol for two ABI devices that are not approved by the US Food and Drug Administration. METHODS: A retrospective review was performed of neurofibromatosis type 2 (NF2) patients who underwent microsurgery for vestibular schwannoma (VS) and placement of either the Cochlear ABI541 or Med-El Synchrony ABIs. Peri-operative and device- related complications were reviewed...
January 18, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28078640/development-of-the-pediatric-quality-of-life-inventory-neurofibromatosis-type-1-module-items-for-children-adolescents-and-young-adults-qualitative-methods
#8
Kavitha Nutakki, James W Varni, Sheila Steinbrenner, Claire B Draucker, Nancy L Swigonski
Health-related quality of life (HRQOL) is arguably one of the most important measures in evaluating effectiveness of clinical treatments. At present, there is no disease-specific outcome measure to assess the HRQOL of children, adolescents and young adults with Neurofibromatosis Type 1 (NF1). This study aimed to develop the items and support the content validity for the Pediatric Quality of Life Inventory™ (PedsQL™) NF1 Module for children, adolescents and young adults. The iterative process included multiphase qualitative methods including a literature review, survey of expert opinions, semi-structured interviews, cognitive interviews and pilot testing...
January 11, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28067895/the-nf1-gene-in-tumor-syndromes-and-melanoma
#9
Maija Kiuru, Klaus J Busam
Activation of the RAS/MAPK pathway is critical in melanoma. Melanoma can be grouped into four molecular subtypes based on their main genetic driver: BRAF-mutant, NRAS-mutant, NF1-mutant, and triple wild-type tumors. The NF1 protein, neurofibromin 1, negatively regulates RAS proteins through GTPase activity. Germline mutations in NF1 cause neurofibromatosis type I, a common genetic tumor syndrome caused by dysregulation of the RAS/MAPK pathway, ie, RASopathy. Melanomas with NF1 mutations typically occur on chronically sun-exposed skin or in older individuals, show a high mutation burden, and are wild-type for BRAF and NRAS...
February 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28052660/outcomes-of-treatment-for-malignant-peripheral-nerve-sheath-tumors-different-clinical-features-associated-with-neurofibromatosis-type-1
#10
In Kyung Hwang, Seung Min Hahn, Hyo Sun Kim, Sang Kyum Kim, Hyo Song Kim, Kyoo-Ho Shin, Chang Ok Suh, Chuhl Joo Lyu, Jung Woo Han
Purpose: Malignant peripheral nerve sheath tumors (MPNSTs) are a rare subtype of sarcoma that occur spontaneously or in association with neurofibromatosis type 1 (NF-1). This study aimed to clinically differentiate these types of MPNSTs. Materials and Methods: The study reviewed 95 patients diagnosed with and treated for MPNST at Yonsei University Health System, Seoul, Korea over a 27-year period. The clinical characteristics, prognostic factors, and treatment outcomes of sporadic (sMPNST) and NF-1 associated MPNST (NF-MPNST) cases were compared...
December 1, 2016: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28001089/the-role-of-the-immune-system-in-neurofibromatosis-type-1-associated-nervous-system-tumors
#11
Souvik Karmakar, Karlyne M Reilly
With the recent development of new anticancer therapies targeting the immune system, it is important to understand which immune cell types and cytokines play critical roles in suppressing or promoting tumorigenesis. The role of mast cells in promoting neurofibroma growth in neurofibromatosis type 1 (NF1) patients was hypothesized decades ago. More recent experiments in mouse models have demonstrated the causal role of mast cells in neurofibroma development and of microglia in optic pathway glioma development...
December 21, 2016: CNS Oncology
https://www.readbyqxmd.com/read/27999927/incidence-and-risk-factors-for-the-misplacement-of-pedicle-screws-in-scoliosis-surgery-assisted-by-o-arm-navigation-analysis-of-a-large-series-of-one-thousand-one-hundred-and-forty-five-screws
#12
Mengran Jin, Zhen Liu, Yong Qiu, Huang Yan, Xiao Han, Zezhang Zhu
PURPOSE: To assess the accuracy of O-arm-navigation-based pedicle screw placement in scoliosis surgery and identify the potential risk factors for the misplacement of pedicle screws. METHODS: One hundred forty four scoliosis patients treated with O-arm-navigation-based pedicle screw instrumentation were enrolled, and 1145 pedicle screws implanted in the apical region of the curves were retrospectively reviewed for accuracy according to post-operative CT images. The potential risk factors and independent predictive factor(s) for the misplaced screws were identified statistically...
December 21, 2016: International Orthopaedics
https://www.readbyqxmd.com/read/27982762/the-response-of-spinal-cord-ependymomas-to-bevacizumab-in-patients-with-neurofibromatosis-type-2
#13
Katrina A Morris, Shazia K Afridi, D Gareth Evans, Anke E Hensiek, Martin G McCabe, Mark Kellett, Dorothy Halliday, Pieter M Pretorius, Allyson Parry
OBJECTIVE People with neurofibromatosis Type 2 (NF2) have a genetic predisposition to nervous system tumors. NF2-associated schwannomas stabilize or decrease in size in over half of the patients while they are receiving bevacizumab. NF2 patients treated with bevacizumab for rapidly growing schwannoma were retrospectively reviewed with regard to ependymoma prevalence and response to treatment. METHODS The records of 95 NF2 patients receiving bevacizumab were retrospectively reviewed with regard to spinal ependymoma prevalence and behavior...
December 16, 2016: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/27943006/hereditary-syndromes-predisposing-to-endocrine-tumors-and-their-skin-manifestations
#14
REVIEW
Constantine A Stratakis
We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27941538/nf1-and-neurofibromin-emerging-players-in-the-genetic-landscape-of-desmoplastic-melanoma
#15
REVIEW
Meera Mahalingam
Neurofibromatosis type I (NF1), a monogenic disorder with an autosomal dominant mode of inheritance, is caused by alterations in the NF1 gene which codes for the protein neurofibromin. Functionally, NF1 is a tumor suppressor as it is GTPase-activating protein that negatively regulates the MAPK pathway. More recently, much attention has focused on the role of NF1 and neurofibromin in melanoma as mutations in NF1 have been found to constitute 1 of the 4 distinct genomic categories of melanoma, with the other 3 comprising BRAF, NRAS, and "triple-wild-type" subtypes...
January 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/27924582/modeling-rasopathies-with-genetically-modified-mouse-models
#16
Isabel Hernández-Porras, Carmen Guerra
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27921248/the-molecular-pathogenesis-of-schwannomatosis-a-paradigm-for-the-co-involvement-of-multiple-tumour-suppressor-genes-in-tumorigenesis
#17
REVIEW
Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N Cooper
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours...
February 2017: Human Genetics
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
#18
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/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#19
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27908211/pheochromocytoma-in-neurofibromatosis-type-1-during-pregnancy
#20
Pablo Remón-Ruiz, Alberto Aliaga-Verdugo, Raquel Guerrero-Vázquez
Pregnant women with neurofibromatosis type 1 (NF-1) have increased complications during gestation, including hypertensive disorders that are sometimes caused by pheochromocytoma. Pheochromocytoma is an extremely rare condition during pregnancy, and the main clinical manifestation is hypertension. If not properly treated, pheochromocytoma has high maternal and fetal mortality rates. Early recognition and adequate clinical management before delivery have led to better outcomes in the last few decades. Despite the association of NF-1 and pheochromocytoma, there are few clinical reports of these two conditions in pregnant patients...
February 2017: Gynecological Endocrinology
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