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    11103 results match your criteria Neurofibromatosis Type 1

    1 OF 223

    The effect of parental age on NF1 patients in Turkey.
    J Community Genet 2017 Nov 15. Epub 2017 Nov 15.
    Department of Medical Biology, TOBB University of Economics and Technology, Faculty of Medicine, Ankara, Turkey.
    Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature. Read More

    Plexiform Neurofibroma of Clitoris.
    J Pediatr Genet 2017 Dec 2;6(4):244-246. Epub 2017 May 2.
    Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India.
    The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Read More

    Metaplastic spindle cell carcinoma of the breast in a patient with neurofibromatosis type 1.
    Breast J 2017 Nov 15. Epub 2017 Nov 15.
    Department of Pathology, Gyeongsang National University Changwon Hospital, Gyeongsang National University School of Medicine, Changwon, Korea.
    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. Read More

    Limitations of the Pax7-creER(T2) transgene for driving deletion of Nf1 in adult mouse muscle.
    Int J Dev Biol 2017 ;61(8-9):531-536
    Orthopaedic Research and Biotechnology, The Children's Hospital at Westmead, Westmead, NSW, Australia.
    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. Read More

    Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations.
    Brain Tumor Pathol 2017 Nov 14. Epub 2017 Nov 14.
    Department of Neurosurgery, Tohoku University School of Medicine, Sendai, Japan.
    Pilocytic astrocytomas and low-grade gliomas are more common compared with glioblastomas in patients with neurofibromatosis 1 (NF1). A recent genome-wide analysis has shown frequent NF1 gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological features of glioblastomas in NF1 patients (NF1 glioblastomas). We analyzed four NF1 glioblastomas. Read More

    Malignant Peripheral Nerve Sheath Tumor of the Inguinum and Angiosarcoma of the Scalp in a Child with Neurofibromatosis Type 1.
    Case Rep Pathol 2017 24;2017:7542825. Epub 2017 Aug 24.
    Institute of Pathology, School of Medicine, University of Zagreb, Šalata 10, 10000 Zagreb, Croatia.
    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. Read More

    SARC006: Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated Chemotherapy-Naive Malignant Peripheral Nerve Sheath Tumors.
    Sarcoma 2017 12;2017:8685638. Epub 2017 Sep 12.
    Pediatric Oncology Branch, NCI, CCR, Bethesda, MD, USA.
    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%). Read More

    Neurofibromatosis type-1 is a prognostic indicator in human gastric carcinoma.
    Oncotarget 2017 Oct 3;8(47):82910-82919. Epub 2017 Aug 3.
    Department of Oncology, Affiliated Hospital of Shandong Academy of Medical Sciences, Jinan, Shandong, China.
    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. Read More

    Immune profiling of NF1-associated tumors reveals histologic subtype distinctions and heterogeneity: implications for immunotherapy.
    Oncotarget 2017 Oct 30;8(47):82037-82048. Epub 2017 May 30.
    Division of Hematology, Oncology, Blood and Marrow Transplant, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, USA.
    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. Read More

    MEK inhibitors enhance therapeutic response towards ATRA in NF1 associated malignant peripheral nerve sheath tumors (MPNST) in-vitro.
    PLoS One 2017 13;12(11):e0187700. Epub 2017 Nov 13.
    Institute of Neuropathology, University Hospital Münster, Münster, Germany.
    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). Read More

    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.
    J Nucl Med Technol 2017 Nov 10. Epub 2017 Nov 10.
    Radiology Department, Université de Montréal, Canada.
    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. Read More

    Health literacy assessment in adults with neurofibromatosis: electronic and short-form measurement using FCCHL and Health LiTT.
    J Neurooncol 2017 Nov 8. Epub 2017 Nov 8.
    Department of Psychiatry, Behavioral Medicine Service, Massachusetts General Hospital, Harvard Medical School, One Bowdoin Square, 7th floor, Suite 758, Boston, MA, 02114, USA.
    Determining health literacy level is an important prerequisite for effective patient education. We assessed multiple dimensions of health literacy and sociodemographic predictors of health literacy in patients with neurofibromatosis. In 86 individuals with a confirmed diagnosis of neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), or schwannomatosis, we assessed health literacy status using two HL tools-the adapted functional, communicative, and critical health literacy scale (adapted FCCHL) and health literacy assessment using talking touchscreen technology (Health LiTT). Read More

    Pediatric Optic Pathway/Hypothalamic Glioma.
    Neurol Med Chir (Tokyo) 2017 Nov 9. Epub 2017 Nov 9.
    Department of Neurosurgery, Tokyo Women's Medical University.
    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. Read More

    Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future.
    J Natl Cancer Inst 2017 Aug;109(8)
    Rare Tumor Initiative, Laboratory of Pathology, and Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD; Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD; Neurofibromatosis Center, Department of Neurology Guy's Hospital London, London, UK; Department of Neurology, Washington University School of Medicine, St. Louis, MO; Department of Human Genetics, University of Leuven, Leuven, Belgium; Hunstman Cancer Institute, University of Utah, Salt Lake City, UT; Division of Experimental Hematology and Cancer Biology, Department of Pediatrics, Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, OH; Bill and Melinda Gates Foundation, Seattle, WA; Children's Tumor Foundation, New York, NY; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
    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. Read More

    Giant Cell Glioblastoma in a Child with Clinical and Family History of Neurofibromatosis.
    Asian J Neurosurg 2017 Oct-Dec;12(4):779-782
    Department of Pathology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, New Delhi, India.
    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. Read More

    Motor dysfunction in NF1: Mediated by attention deficit or inherent to the disorder?
    Eur J Paediatr Neurol 2017 Oct 20. Epub 2017 Oct 20.
    University Children's Hospital Tübingen, Department of Pediatric Neurology and Developmental Medicine, Hoppe-Seyler-Straße 1, 72076, Tübingen, Germany.
    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. Read More

    Malignant triton tumor of the gluteal region in a patient unaffected by neurofibromatosis: A case report.
    Acta Orthop Traumatol Turc 2017 Oct 27. Epub 2017 Oct 27.
    Ankara University, School of Medicine, Ibn-i Sina Hospital, Department of Orthopedics, Oncology Section, Ankara, Turkey.
    Malignant triton tumor (MTT) is a rare variant of malignant peripheral nerve sheath tumor (MPNST) made up of both malignant schwannoma cells and malignant rhabdomyoblasts. A 26-years-old male patient was admitted with an asymptomatic gluteal mass. Magnetic resonance imaging showed heterogeneous soft tissue mass and he underwent open biopsy. Read More

    Growing Cyst-Like White Matter Lesions in Children With Neurofibromatosis Type 1.
    Pediatr Neurol 2017 Aug 4. Epub 2017 Aug 4.
    Department of Radiology, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, South Korea.
    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. Read More

    Giant phaeochromocytoma presenting with an acute stroke: reappraising phaeochromocytoma surveillance for the neurofibromatosis type 1 phakomatosis.
    BMJ Case Rep 2017 Nov 3;2017. Epub 2017 Nov 3.
    Department of Endocrinology, Tan Tock Seng Hospital, Singapore, Asia.
    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. Read More

    [Neurofibromas in the urogenital system: Report of two cases and literature review.]
    Arch Esp Urol 2017 Nov;70(9):796-799
    Servicio de Urología. Hospital General Universitario de Elche. Elche. Alicante. España.
    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. Read More

    Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification.
    J Dermatol 2017 Nov 18;44(11):1262-1267. Epub 2017 May 18.
    Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago.
    Neurofibromatosis 1 (NF1) is a genetic disease characterized by cutaneous, neurological and osseous complications. Although clinical manifestations of NF1 are variable, there has been no report on evaluation of severity in patients with NF1. To elucidate the grade of severity of NF1, a retrospective study was conducted in 124 NF1 patients at the Department of Dermatology of Tottori University Hospital in 2007-2016. Read More

    Volumetric MRI Analysis of Plexiform Neurofibromas in Neurofibromatosis Type 1: Comparison of Two Methods.
    Acad Radiol 2017 Oct 30. Epub 2017 Oct 30.
    Center for Cancer Research, Pediatric Oncology Branch, National Cancer Institute, 10 Center Drive, CRC Room 1-5750, Bethesda, MD 20892. Electronic address:
    Objectives: Plexiform neurofibromas (PNs) are complex, histologically benign peripheral nerve sheath tumors that are challenging to measure by simple line measurements. Computer-aided volumetric segmentation of PN has become the recommended method to assess response in clinical trials directed at PN. Different methods for volumetric analysis of PN have been developed. Read More

    A Case of Retroperitoneal Malignant Triton Tumor in a Nigerian Boy.
    Niger J Surg 2017 Jul-Dec;23(2):141-144
    Department of Surgery, Paedaitric Surgery Unit, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria.
    Malignant peripheral nerve sheath tumor is a rare tumor occurring in 5%-10% of all malignant soft tissues sarcomas and triton tumor arising from neurofibromatosis type 1 (NF-1) is even rarer with associated high rate of mortality. No case of triton tumor has been reported in Nigeria to the best of our knowledge. We seek to report a case of lately detected retroperitoneal triton tumor presenting in a 12-year-old Nigerian child who was brought with bilateral lower limb weaknesses, weight loss, and a right lumbar mass. Read More

    Correction of Progressive Severe Cervical Kyphosis in a 21-Month-Old Patient With NF1: Surgical Technique and Review of Literature.
    Oper Neurosurg (Hagerstown) 2017 Oct 26. Epub 2017 Oct 26.
    Pediatric Neurosurgical Associates, Children's Healthcare of Atlanta, Georgia.
    Background: Severe cervical kyphosis in the setting of neurofibromatosis type 1 (NF1) is a rare manifestation of the disease in the pediatric population. Dystrophic and immature bone complicate the placement of hardware necessary for surgical correction of alignment and a review of the literature yields 4 cases of pediatric patients with NF1 requiring surgical intervention in which the youngest patient was 10 yr old.

    Objective: To report the case of an 11-mo-old female with NF1 who presented with a plexiform cervical neurofibroma and focal cervical kyphosis. Read More

    Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report.
    Eur J Breast Health 2017 Oct 1;13(4):213-215. Epub 2017 Oct 1.
    Institute of Oncology, Dokuz Eylül University, İzmir, Turkey.
    Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma. Read More

    Fatal acute retropharyngeal hemorrhage in neurofibromatosis type 1.
    Forensic Sci Med Pathol 2017 Dec 28;13(4):436-440. Epub 2017 Oct 28.
    Ontario Forensic Pathology Service & Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
    We report the sudden death of a woman with neurofibromatosis type 1 (NF1). The decedent developed acute respiratory distress and died rapidly despite an emergent cricothyroidotomy. An autopsy with postmortem CT scan was performed to determine the cause of the fatal respiratory collapse and to determine if death was related to neurofibromatosis. Read More

    Ophthalmic manifestations in neurofibromatosis type 1.
    Surv Ophthalmol 2017 Oct 25. Epub 2017 Oct 25.
    Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Illinois, USA. Electronic address:
    Neurofibromatosis type 1 (NF1) is a relatively common multisystemic inherited disease and has been extensively studied by multiple disciplines. While genetic testing and confirmation are available, NF1 remains a clinical diagnosis. Many manifestations of NF1 involve the eye and orbit, and the ophthalmologist, therefore, plays a significant role in the diagnosis and treatment of NF1 patients. Read More

    THSD7A-associated membranous nephropathy in a patient with neurofibromatosis type 1.
    Eur J Med Genet 2017 Oct 25. Epub 2017 Oct 25.
    Renal Division, Department of Internal Medicine, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:
    Target antigens in idiopathic membranous nephropathy (MN) include the phospholipase A2 receptor (PLA2R), and in some cases, the thrombospondin type 1 domain-containing 7A (THSD7A). A notable phenomenon is the high rate of cancer (reported to be as high as 20%) in patients with THSD7A-associated MN. Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by NF1 gene mutation, and clinically characterized by multiple cutaneous neurofibromas and café-au-lait spots. Read More

    Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: a pilot study.
    Sci Rep 2017 Oct 24;7(1):13905. Epub 2017 Oct 24.
    Department of Neuropsychiatry, Graduate School of Medical Sciences, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka, 812-8582, Japan.
    Direct conversion technique to produce induced-neuronal (iN) cells from human fibroblasts within 2 weeks is expected to discover unknown neuronal phenotypes of neuropsychiatric disorders. Here, we present unique gene expression profiles in iN cells from patients with neurofibromatosis type 1 (NF1), a single-gene multifaceted disorder with comparatively high co-occurrence of autism spectrum disorder (ASD). Microarray-based transcriptomic analysis on iN cells from male healthy controls and male NF1 patients (NF1-iN cells) revealed that 149 genes expressions were significantly different (110 upregulated and 39 downregulated). Read More

    Neurofibromatosis type 1 and optic pathway glioma: Molecular interplay and therapeutic insights.
    Pediatr Blood Cancer 2017 Oct 19. Epub 2017 Oct 19.
    Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia.
    Children with neurofibromatosis type 1 (NF1) are predisposed to develop central nervous system neoplasms, the most common of which are low-grade gliomas (LGGs). The absence of human NF1 associated LGG-derived cell lines, coupled with an inability to generate patient-derived xenograft models, represents barriers to profile molecularly targeted therapies for these tumors. Thus, genetically engineered mouse models have been identified to evaluate the interplay between Nf1-deficient tumor cells and nonneoplastic stromal cells to evaluate potential therapies for these neoplasms. Read More

    Long-term Surgical Outcomes After Early Definitive Spinal Fusion for Early-onset Scoliosis With Neurofibromatosis Type 1 at Mean Follow-up of 14 Years.
    J Pediatr Orthop 2017 Oct 18. Epub 2017 Oct 18.
    Department of Orthopaedics and Spine Surgery, Meijo Hospital, Nagoya, Japan.
    Background: Several authors mentioned surgical outcome for scoliosis associated with neurofibromatosis type 1 (NF-1). However, no studies have summarized long-term surgical outcomes after surgical treatment of early-onset scoliosis (EOS) with NF-1. The purpose of this study is to evaluate the long-term surgical outcome after early definitive spinal fusion for EOS in NF-1 patients. Read More

    Inherited and acquired clinical phenotypes associated with neuroendocrine tumors.
    Curr Opin Allergy Clin Immunol 2017 Dec;17(6):431-442
    aDepartment of Pediatrics bDepartment of Internal Medicine, Division of Allergy and Immunology cChildren's Health, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
    Purpose Of Review: Overview of neuroendocrine neoplasms in the context of their associations with primary and secondary immunodeficiency states.

    Recent Findings: Malignancies of neuroendocrine origin are well known to be associated with hereditary syndromes, including multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis. This review includes the X-linked form of hyper-IgM syndrome (XHIGM), due to mutations in the CD40Ligand gene (CD40LG), as an additional inherited disorder with susceptibility to such malignancies, and discusses neuroendocrine tumors (NETs) arising in other immunocompromised states. Read More

    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.
    World J Nucl Med 2017 Oct-Dec;16(4):324-327
    Department of Nuclear Medicine, PGIMER, Chandigarh, India.
    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. Read More

    The reduced osteogenic potential of Nf1-deficient osteoprogenitors is EGFR-independent.
    Bone 2017 Oct 12;106:103-111. Epub 2017 Oct 12.
    Department of Orthopedic Surgery, Baylor College of Medicine, Houston, TX, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States. Electronic address:
    Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by mutations in the NF1 gene. Recalcitrant bone healing following fracture (i.e. 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

    A Collaborative Model for Accelerating the Discovery and Translation of Cancer Therapies.
    Cancer Res 2017 Nov 9;77(21):5706-5711. 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 Dec;33(12):2211
    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

    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

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