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    15917 results match your criteria Neurofibromatosis

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    Supratentorial extraparenchymal schwannoma mimicking parasagittal meningioma: A rare case report.
    Surg Neurol Int 2017 26;8:228. Epub 2017 Sep 26.
    Department of Neurosurgery, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
    Background: Intracranial schwannomas not related to cranial nerves are very rare. Young age, no known history of neurofibromatosis, and seizure as initial symptom have been reported to be associated with intraparenchymal schwannoma.

    Case Description: We report a case of supratentorial parasagittal schwannoma in the right frontal region presenting with seizure episode in a 70-year-old man. Read More

    Pediatric Auditory Brainstem Implantation: Surgical, Electrophysiologic, and Behavioral Outcomes.
    Ear Hear 2017 Oct 11. Epub 2017 Oct 11.
    1Department of Otolaryngology-Head and Neck Surgery, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina;2Boys Town National Research Hospital, Center for Hearing Research, Omaha, Nebraska; 3Department of Neurosurgery, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and 4Department of Otolaryngology-Head and Neck Surgery, Washington University in St. Louis, St. Louis, Missouri.
    Objectives: The objectives of this study were to demonstrate the safety of auditory brainstem implant (ABI) surgery and document the subsequent development of auditory and spoken language skills in children without neurofibromatosis type II (NFII).

    Design: A prospective, single-subject observational study of ABI in children without NFII was undertaken at the University of North Carolina at Chapel Hill. Five children were enrolled under an investigational device exemption sponsored by the investigators. Read More

    Diffuse Intestinal Ganglioneuromatosis Showing Multiple Large Bowel Ulcers in a Patient with Neurofibromatosis Type 1.
    Intern Med 2017 Oct 11. Epub 2017 Oct 11.
    Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Japan.
    A 67-year-old Japanese man with neurofibromatosis type 1 underwent right hemicolectomy owing to abscess formation around the cecum. A pathological analysis revealed diffuse intestinal ganglioneuromatosis in the cecum and colon. Colonoscopy performed eight months after hemicolectomy revealed multiple ulcers throughout the colon and rectum. Read More

    The prognostic value of C-X-C motif chemokine receptor 4 in patients with sporadic malignant peripheral nerve sheath tumors.
    Chin J Cancer 2017 Oct 11;36(1):80. Epub 2017 Oct 11.
    Department of Bone and Soft Tissue Tumor, Tianjin Medical University Cancer Institute & Hospital, Tianjin, 30060, P. R. China.
    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.

    Methods: CXCR4, CXCL12, and Cyclin D1 protein expression in samples from 58 Chinese patients with sporadic MPNST was assessed with immunohistochemical staining. Read More

    Pediatric Low-Grade Gliomas: Next Biologically Driven Steps.
    Neuro Oncol 2017 Aug 2. Epub 2017 Aug 2.
    Gilbert Family Neurofibromatosis Institute.
    Despite the fact that they are not typically life-threatening, low-grade gliomas (LGGs) remain a significant clinical challenge in pediatric neurooncology due to co-morbidities associated with these tumors and/or their treatments, and their propensity to multiply recur. LGGs, in total the most common brain tumors arising in childhood, can often become a chronic problem requiring decades of management. The 2nd international consensus conference on pediatric low-grade gliomas held in Padua, Italy in 2016, was convened in an attempt to advance the pace of translating biological discoveries on LGGs into meaningful clinical benefit. Read More

    A Collaborative Model for Accelerating the Discovery and Translation of Cancer Therapies.
    Cancer Res 2017 Oct 9. Epub 2017 Oct 9.
    Genetics Division, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
    Preclinical studies using genetically engineered mouse models (GEMM) have the potential to expedite the development of effective new therapies; however, they are not routinely integrated into drug development pipelines. GEMMs may be particularly valuable for investigating treatments for less common cancers, which frequently lack alternative faithful models. Here, we describe a multicenter cooperative group that has successfully leveraged the expertise and resources from philanthropic foundations, academia, and industry to advance therapeutic discovery and translation using GEMMs as a preclinical platform. Read More

    A 63-Year-Old Woman With Neurofibromatosis Type 1 and Pulmonary Hypertension With Worsening Hypoxemia.
    Chest 2017 Oct;152(4):e89-e93
    Division of Pulmonary, Critical Care, and Sleep Medicine, Keck School of Medicine of the University of Southern California, Los Angeles, CA.
    Case Presentation: A 63-year-old woman with a history of neurofibromatosis type-1 (NF-1) and pulmonary arterial hypertension (PAH) thought to be secondary to the NF-1 presented with a few weeks of worsening dyspnea on exertion. She took no medications other than sildenafil for her pulmonary hypertension (PH). She denied tobacco, alcohol, and illicit or anorectic drug use. Read More

    Correction to: Sphenoid dysplasia in neurofibromatosis type 1: a new technique for repair.
    Childs Nerv Syst 2017 Oct 7. Epub 2017 Oct 7.
    Department of Neurosurgery, International Neuroscience Institute, Rudolf Pichlmayr Str. 4, 30625, Hannover, Germany.
    The published version of this article unfortunately contained an error. All names of the authors have been published incorrectly. Given in this article are the corrected author names. Read More

    Isolated optic nerve gliomas: a multicenter historical cohort study.
    J Neurosurg Pediatr 2017 Oct 6:1-7. Epub 2017 Oct 6.
    The Gilbert Israeli Neurofibromatosis Center, Dana Children's Hospital.
    OBJECTIVE Isolated optic nerve gliomas (IONGs) constitute a rare subgroup of optic pathway gliomas (OPGs). Due to the rarity of this condition and the difficulty in differentiating IONGs from other types of OPGs in most clinical series, little is known about these tumors. Currently, due to lack of evidence, they are managed the same as any other OPG. Read More

    [Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Oct;34(5):695-698
    Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
    Objective: To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype.

    Methods: Neuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Read More

    Abdominal Imaging Findings in Neurocutaneous Syndromes: Looking Below the Diaphragm.
    AJR Am J Roentgenol 2017 Oct 5:1-12. Epub 2017 Oct 5.
    1 Department of Radiology, Vancouver General Hospital and University of British Columbia, 899 W 12th Ave, Vancouver, BC, Canada V5Z 1M9.
    Objective: Neurocutaneous syndromes are a heterogeneous group of multisystemic disorders. We review the multimodality imaging findings in the disorders with a propensity for intraabdominal disease. We highlight more recently recognized disease patterns and discuss imaging surveillance optimization. Read More

    Hemorrhagic presentation of intracranial pilocytic astrocytomas: literature review.
    Neurosurg Rev 2017 Oct 4. Epub 2017 Oct 4.
    Department of Neurosurgery, Kasturba Medical College, Manipal University, Manipal, 576104, India.
    Pilocytic astrocytomas (PAs) are seemingly innocuous and benign tumors. However, in recent times, many case series have documented high rates of hemorrhage in these neoplasms. We hereby provide a detailed analysis on hemorrhagic pilocytic astrocytomas (HPA) in adults and report one such case managed at our institute. Read More

    [Lisch nodule in neurofibromatosis type 1].
    Pan Afr Med J 2017 21;27:218. Epub 2017 Jul 21.
    Université Mohammed V Souissi, Service d'Ophtalmologie de l'Hôpital Militaire Mohamed V, Hay Riad, Rabat, Maroc.
    Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Read More

    Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient.
    Neurosurgery 2017 Jul 20. Epub 2017 Jul 20.
    Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Central Manchester NHS Foundation Trust, Manchester, United Kingdom.
    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. Read More

    High-Grade Glioma is not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient.
    Neurosurgery 2017 Jul 21. Epub 2017 Jul 21.
    Department of Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Central Manchester NHS Foundation Trust, Manchester, United Kingdom.
    Background: The Manchester criteria for neurofibromatosis type 2 (NF2) include a range of tumors, and gliomas were incorporated in the original description. The gliomas are now widely accepted to be predominantly spinal cord ependymomas.

    Objective: To determine whether these gliomas include any cases of malignant glioma (WHO grade III and IV) through a database review. Read More

    Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors.
    Adv Exp Med Biol 2017 ;987:151-159
    2nd Department of Neurology, School of Medicine, University of Athens, Attikon Hospital, Athens, Greece.
    Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Germline mutations that disrupt the RAS/MAPK pathway are involved in the pathogenesis of both NS and NF1. In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. Read More

    The value of intraoperative EABRs in auditory brainstem implantation.
    Int J Pediatr Otorhinolaryngol 2017 Oct 9;101:158-163. Epub 2017 Aug 9.
    New York University School of Medicine, NYU Langone Medical Center, United States.
    Objective: To compare the intraoperative electrically evoked auditory brainstem response (EABR) morphologies between neurofibromatosis II (NF2) adult auditory brainstem implant (ABI) recipients who had auditory percepts post-operatively and those who did not and between NF2 adult ABI recipients and non-NF2 pediatric ABI recipients.

    Methods: This was a retrospective case series at a single tertiary academic referral center examining all ABI recipients from 1994 to 2016, which included 34 NF2 adults and 11 non-NF2 children. The morphologies of intraoperative EABRs were evaluated for the number of waveforms showing a response, the number of positive peaks in those responses, and the latencies of each of these peaks. Read More

    Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
    Int J Mol Sci 2017 Sep 29;18(10). Epub 2017 Sep 29.
    Medical Genetics, University Hospital of Parma, 43126 Parma, Italy.
    Neurofibromatosis type I, a genetic disorder due to mutations in the NF1 gene, is characterized by a high mutation rate (about 50% of the cases are de novo) but, with the exception of whole gene deletions associated with a more severe phenotype, no specific hotspots and few solid genotype/phenotype correlations. After retrospectively re-evaluating all NF1 gene variants found in the diagnostic activity, we studied 108 patients affected by neurofibromatosis type I who harbored mutations that had not been previously reported in the international databases, with the aim of analyzing their type and distribution along the gene and of correlating them with the phenotypic features of the affected patients. Out of the 108 previously unreported variants, 14 were inherited by one of the affected parents and 94 were de novo. Read More

    Children with 5'-end NF1 gene mutations are more likely to have glioma.
    Neurol Genet 2017 Oct 22;3(5):e192. Epub 2017 Sep 22.
    Department of Neurology (C.A., S.M.M., D.H.G.) and Department of Surgery (F.G.), Washington University in St. Louis, MO.
    Objective: To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).

    Methods: The relationship between the type and location of the germline NF1 mutation and the presence of a glioma was analyzed in 37 participants with NF1 from one institution (Washington University School of Medicine [WUSM]) with a clinical diagnosis of NF1. Odds ratios (ORs) were calculated using both unadjusted and weighted analyses of this data set in combination with 4 previously published data sets. Read More

    Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
    J Med Genet 2017 Sep 27. Epub 2017 Sep 27.
    Reference Center for Inherited Metabolic Disease, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, University Paris Descartes-Sorbonne Paris Cité, Paris, France.
    Background: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism.

    Objectives: To better characterise the natural history of PMM2-CDG.

    Methods: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed. Read More

    Optic Pathway Gliomas Secondary to Neurofibromatosis Type 1.
    Semin Pediatr Neurol 2017 May 10;24(2):92-99. Epub 2017 Apr 10.
    Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
    Children with neurofibromatosis type 1 frequently manifest optic pathway gliomas-low-grade gliomas intrinsic to the visual pathway. This review describes the molecular and genetic mechanisms driving optic pathway gliomas as well as the clinical symptoms of this relatively common genetic condition. Recommendations for clinical management and descriptions of the newest imaging techniques are discussed. Read More

    Incremental value of multiparametric whole-body MR imaging over whole spine magnetic resonance imaging in Neurofibromatosis type I patients.
    World Neurosurg 2017 Sep 19. Epub 2017 Sep 19.
    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. Read More

    Reduced RAC1 activity inhibits cell proliferation and induces apoptosis in neurofibromatosis type 2(NF2)-associated schwannoma.
    Neurol Res 2017 Sep 22:1-8. Epub 2017 Sep 22.
    a Beijing Neurosurgical Institute, Capital Medical University , Beijing , China.
    Objective To study the function and potential mechanism of RAC1 inhibitors in NF2-associated schwannoma. Methods In this study, we the downregulation of RAC1 activity and tumor cell phenotypes by RAC1 inhibitor NSC23766 in vitro. And we further validated the anti-proliferation effect by this RAC1 inhibitor in subcutaneous xenograft tumor model and sciatic nerve model. Read More

    Neurofibromatosis type 1 alternative splicing is a key regulator of Ras/ERK signaling and learning behaviors in mice.
    Hum Mol Genet 2017 Oct;26(19):3797-3807
    Department of Genetics and Genome Sciences.
    Appropriate activation of the Ras/extracellular signal-regulated kinase (ERK) protein signaling cascade within the brain is crucial for optimal learning and memory. One key regulator of this cascade is the Nf1 Ras GTPase activating protein (RasGAP), which attenuates Ras/ERK signaling by converting active Ras is bound to guanosine triphosphate, activating Ras into inactive Ras is bound to guanosine diphosphate, inactivating Ras. A previous study using embryonic stem cells and embryonic stem cell-derived neurons indicated that Nf1 RasGAP activity is modulated by the highly regulated alternative splicing of Nf1 exon 23a. Read More

    Testing the excitation/inhibition imbalance hypothesis in a mouse model of the autism spectrum disorder: in vivo neurospectroscopy and molecular evidence for regional phenotypes.
    Mol Autism 2017 19;8:47. Epub 2017 Sep 19.
    CiBIT, Institute for Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.
    Background: Excitation/inhibition (E/I) imbalance remains a widely discussed hypothesis in autism spectrum disorders (ASD). The presence of such an imbalance may potentially define a therapeutic target for the treatment of cognitive disabilities related to this pathology. Consequently, the study of monogenic disorders related to autism, such as neurofibromatosis type 1 (NF1), represents a promising approach to isolate mechanisms underlying ASD-related cognitive disabilities. Read More

    Neurofibromatosis Type 1 Accompanied by Craniofacial Pain: Literature Review and Descriptive Case.
    J Oral Facial Pain Headache 2017 Sep 20. Epub 2017 Sep 20.
    Neurofibromatosis type 1 (NF-1) is a genetic disease with characteristic neurofibromas and bony dysplasia that manifest throughout the body, including the craniofacial region. NF-1 patients are known to frequently report chronic pain in areas below the head; however, the matter of pain in the craniofacial region in this patient group has not been handled intensively so far, and studies have mainly focused on headaches. This article comprehensively reviews the related literature and reports a case of an NF-1 patient whose chief complaint was headache and pain in the temporomandibular joint area. Read More

    Parasagittal meningioma: A not so benign entity.
    Med Sci Law 2017 Jan 1:25802417732267. Epub 2017 Jan 1.
    School of Medicine, The University of Adelaide, Australia.
    While the majority of intracranial meningiomas have an indolent clinical course, sudden and unexpected death may rarely occur. Two cases are reported to demonstrate rapid clinical deterioration resulting in death in individuals with large, grade I, parasagittal meningiomas. Case 1 was a 46-year-old man with a history of headaches and epilepsy who suddenly collapsed and died. Read More

    Malignant triton tumor: Grand Round presentation of a rare aggressive case thoracolumbar spine tumor.
    Eur Spine J 2017 Sep 18. Epub 2017 Sep 18.
    Department of Spinal Surgery Unit 2, Bordeaux University Hospital, Université de Bordeaux, C.H.U Tripode Pellegrin, Place Amélie Raba Léon, 33076, Bordeaux, France.
    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. Read More

    Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.
    Balkan J Med Genet 2017 Jun 30;20(1):13-20. Epub 2017 Jun 30.
    Department of Child and Adolescent Psychiatry, Trakya University Faculty of Medicine, Edirne, Turkey.
    Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. Read More

    Osteoglycin promotes meningioma development through downregulation of NF2 and activation of mTOR signaling.
    Cell Commun Signal 2017 Sep 18;15(1):34. Epub 2017 Sep 18.
    Center for Skull Base and Pituitary Surgery, Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
    Background: Meningiomas are the most common primary intracranial tumors in adults. While a majority of meningiomas are slow growing neoplasms that may cured by surgical resection, a subset demonstrates more aggressive behavior and insidiously recurs despite surgery and radiation, without effective alternative treatment options. Elucidation of critical mitogenic pathways in meningioma oncogenesis may offer new therapeutic strategies. Read More

    Perioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel-Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1.
    Surgery 2017 Sep 14. Epub 2017 Sep 14.
    Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN. Electronic address:
    Background: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms.

    Methods: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. Read More

    Anti-VEGF treatment improves neurological function in tumors of the nervous system.
    Exp Neurol 2017 Sep 11. Epub 2017 Sep 11.
    Edwin Steele Laboratories, Department of Radiation Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA. Electronic address:
    Research of various diseases of the nervous system has shown that VEGF has direct neuroprotective effects in the central and peripheral nervous systems, and indirect effects on improving neuronal vessel perfusion which leads to nerve protection. In the tumors of the nervous system, VEGF plays a critical role in tumor angiogenesis and tumor progression. The effect of anti-VEGF treatment on nerve protection and function has been recently reported - by normalizing the tumor vasculature, anti-VEGF treatment is able to relieve nerve edema and deliver oxygen more efficiently into the nerve, thus reducing nerve damage and improving nerve function. Read More

    Surgery versus stereotactic radiosurgery for the treatment of multiple meningiomas in neurofibromatosis type 2: illustrative case and systematic review.
    Neurosurg Rev 2017 Sep 13. Epub 2017 Sep 13.
    Department of Neurosurgery, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
    Neurofibromatosis type 2 (NF2) is a genetic neoplastic disorder that presents with hallmark bilateral vestibular schwannomas and multiple meningiomas. Though the current standard of care for meningiomas includes surgery, the multiplicity of meningiomas in NF2 patients renders complete resection of all developing lesions infeasible. Stereotactic radiosurgery (SRS) may be a viable non-invasive therapeutic alternative to surgery. Read More

    Primary Intraosseous Malignant Peripheral Nerve Sheath Tumor of Metacarpal Bones of the Hand in a Patient Without Neurofibromatosis 1: Report of a Rare Case.
    Indian J Med Paediatr Oncol 2017 Apr-Jun;38(2):232-235
    Department of Pathology, All Institute of Medical Sciences, New Delhi, India.
    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. Read More

    Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
    Genes Chromosomes Cancer 2017 Sep 10. Epub 2017 Sep 10.
    Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan.
    NF1 mutations predispose to neurofibromatosis type 1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17. Read More

    Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1.
    J Dermatol 2017 Sep 11. Epub 2017 Sep 11.
    Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago, Japan.
    Neurofibromatosis 1 (NF1) is characterized by cutaneous, neurological and osseous manifestations. Most NF1 patients develop cutaneous neurofibromas. However, time-dependent change with aging and the predilection site of cutaneous neurofibromas remain unclear. Read More

    [A Case of Primary Schwannoma of the Urinary Bladder].
    Hinyokika Kiyo 2017 Aug;63(8):323-328
    The Department of Urology and Andrology, Doctoral Program in Clinical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba.
    A 68-year-old woman presented with a bladder tumor. She was asymptomatic, and the tumor was incidentally detected with radiological imaging performed during treatment of cervical cancer. Magnetic resonance imaging and computed tomography revealed a solitary submucosal tumor located in the anterior wall of the urinary bladder, with homogeneous contrast enhancement. Read More

    Clinicopathological variables of sporadic schwannomas of peripheral nerve in 291 patients and expression of biologically relevant markers.
    J Neurosurg 2017 Sep 8:1-10. Epub 2017 Sep 8.
    Neurosurgery and.
    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. Read More

    A systematic review of radiosurgery versus surgery for neurofibromatosis type 2 vestibular schwannomas.
    World Neurosurg 2017 Sep 4. Epub 2017 Sep 4.
    Department of Neurosurgery, University of California Los Angeles, 300 Stein Plaza, 5th Floor Wasserman Bldg., Los Angeles, CA 90095-6901, USA; Department of Radiation Oncology, University of California Los Angeles, 200 UCLA Medical Plaza, Suite B265, Los Angeles, CA 90095-6951, USA; Department of Head and Neck Surgery, University of California Los Angeles, 200 UCLA Medical Plaza, Suite 550, Los Angeles, CA 90095-6901, USA; Jonsson Comprehensive Cancer Center, University of California Los Angeles, 200 UCLA Medical Plaza, Suite B265, Los Angeles, CA 90095-6951, USA. Electronic address:
    Objective: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas (VS). NF2-associated VS (NF2-VS) are routinely treated with microsurgery; however, stereotactic radiosurgery (SRS) has emerged as an effective alternative in recent decades. To better elucidate the role of SRS in NF2-VS, a systematic review of the literature was conducted to compare outcomes of SRS versus surgery. Read More

    Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature.
    Oncotarget 2017 Aug 18;8(32):52474-52487. Epub 2017 Apr 18.
    Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
    The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression. While less studied, brain tumor (glioma) biology is likewise influenced by non-neoplastic immune system cells (macrophages and microglia) which interact with neoplastic glioma cells to create a unique physiological state (glioma ecosystem) distinct from that found in the normal tissue. To explore this neoplastic ground state, we leveraged several preclinical mouse models of neurofibromatosis type 1 (NF1) optic glioma, a low-grade astrocytoma whose formation and maintenance requires productive interactions between non-neoplastic and neoplastic cells, and employed whole tumor RNA-sequencing and mathematical deconvolution strategies to characterize this low-grade glioma ecosystem as an aggregate of cellular and acellular elements. Read More

    Successful treatment with doxorubicin and ifosfamide for mediastinal malignant peripheral nerve sheath tumor with loss of H3K27me3 expression.
    Thorac Cancer 2017 Sep 6. Epub 2017 Sep 6.
    Department of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
    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. Read More

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