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David H Gutmann - One of the best experts on this subject based on the ideXlab platform.

  • optic pathway gliomas in Neurofibromatosis Type 1
    Journal of Child Neurology, 2018
    Co-Authors: Cynthia J Campen, David H Gutmann
    Abstract:

    Neurofibromatosis Type 1 (NF1) is one of the most common brain tumor predisposition syndromes, in which affected children are prone to the development of low-grade gliomas. While NF1-associated gliomas can be found in several brain regions, the majority arise in the optic nerves, chiasm, tracts, and radiations (optic pathway gliomas; OPGs). Owing to their location, 35-50% of affected children present with reduced visual acuity. Unfortunately, despite tumor stabilization following chemotherapy, vision does not improve in most children. For this reasons, more effective therapies are being sought that reflect a deeper understanding of the NF1 gene and the use of authenticated Nf1 genetically-engineered mouse strains. The implementation of these models for drug discovery and validation has galvanized molecularly-targeted clinical trials in children with NF1-OPG. Future research focused on defining the cellular and molecular factors that underlie optic glioma development and progression also has the potential to provide personalized risk assessment strategies for this pediatric population.

  • Neurofibromatosis Type 1
    Nature Reviews Disease Primers, 2017
    Co-Authors: David H Gutmann, Bruce R. Korf, Rosalie E Ferner, Robert Listernick, Pamela L Wolters, Kimberly J Johnson
    Abstract:

    Neurofibromatosis Type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with Neurofibromatosis Type 1 develop pigmentary lesions (cafe-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life. With the identification of NF1 and the generation of accurate preclinical mouse strains that model some of these clinical features, therapies that target the underlying molecular and cellular pathophysiology for Neurofibromatosis Type 1 are becoming available. Although no single treatment exists, current clinical management strategies include early detection of disease phenoTypes (risk assessment) and biologically targeted therapies. Similarly, new medical and behavioural interventions are emerging to improve the quality of life of patients. Although considerable progress has been made in understanding this condition, numerous challenges remain; a collaborative and interdisciplinary approach is required to manage individuals with Neurofibromatosis Type1 and to develop effective treatments.

  • Neurofibromatosis Type 1
    Handbook of Clinical Neurology, 2015
    Co-Authors: Jacqueline L Anderson, David H Gutmann
    Abstract:

    Neurofibromatosis Type 1 (NF1), previously known as von Recklinghausen disease, is a neurogenetic disorder distinct from Neurofibromatosis Type 2 (NF2). Approximately 1:2500 to 1:3500 individuals worldwide are affected, regardless of ethnicity or race. The classic manifestations of NF1 include cafe-au-lait macules, skinfold freckling, neurofibromas, brain tumors, iris hamartomas, and characteristic bony lesions. In addition, patients with NF1 are at increased risk for learning and intellectual disabilities, aqueductal stenosis, pheochromocytoma, vascular dysplasia, scoliosis, and cancer. In this chapter, we discuss the clinical and molecular features of NF1 as well as how insights into its underlying molecular pathophysiology have revealed new targets for therapeutic drug design.

  • Neurofibromatosis Type 1 a multidisciplinary approach to care
    Lancet Neurology, 2014
    Co-Authors: Angela C Hirbe, David H Gutmann
    Abstract:

    Summary Neurofibromatosis Type 1 is a relatively common inherited disorder. Patients have a high predisposition to develop both benign and malignant tumours. Although many manifestations of Neurofibromatosis Type 1 affect the nervous system, other organs and tissues can also be affected. Because of the varying features and clinical heterogeneity inherent to this disorder, patients can present to different medical and surgical specialists and, therefore, the association of clinical symptoms with Neurofibromatosis Type 1 might not be appreciated. Thus, for prompt diagnosis and to provide optimum care for patients with Neurofibromatosis Type 1, clinicians must be aware of the diverse clinical features of this disorder. We advocate a multidisciplinary approach to care, entailing a dedicated team of specialists throughout the lifetime of the patient. As our understanding of this disorder deepens through basic laboratory and clinical investigations, swift implementation of new effective treatments becomes feasible.

  • glomus tumors in individuals with Neurofibromatosis Type 1
    Journal of The American Academy of Dermatology, 2014
    Co-Authors: Monique G Kumar, Ryan J Emnett, Susan J Bayliss, David H Gutmann
    Abstract:

    Background Glomus tumors have recently been reported in individuals with the Neurofibromatosis Type 1 (NF1) cancer disposition syndrome. We compare the clinical and molecular features of these painful hamartomas in a series of sporadic and NF1-associated cases. Objective We sought to evaluate the association of NF1 with glomus tumors and to compare NF1-associated glomus tumors with sporadic glomus tumors. Methods We conducted a retrospective cohort study of all individuals with a histopathologic diagnosis of glomus tumor at a large tertiary care center from January 1998 to January 2013. Charts were reviewed for a coexisting diagnosis of NF1. Results A total of 42 glomus tumors were identified in 34 individuals. Twelve (28.6%) were found in 6 patients with NF1. In 28 individuals with 30 sporadic tumors, there was no coexisting medical condition. Although multifocal tumors (16.7%) and tumor recurrence (33.3%) were more common in association with NF1, these trends did not reach statistical significance. NF1-associated glomus tumors exhibited no neurofibromin immunoreactivity, whereas their sporadic counterparts retained neurofibromin expression. Limitations The retrospective design resulted in incomplete data capture. Conclusions Detection of glomus tumors should raise suspicion for a concurrent diagnosis of NF1.

Moncef Mokni - One of the best experts on this subject based on the ideXlab platform.

  • rare triad of periampullary carcinoid duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in Neurofibromatosis Type 1 a case report
    BMC Cancer, 2017
    Co-Authors: Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni
    Abstract:

    Background Neurofibromatosis Type 1 is a relatively common inherited disorder. Patients with Neurofibromatosis Type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different Types is frequent in Neurofibromatosis Type 1, simultaneous occurrence of abdominal tumors of three Types in very rare.

  • Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in Neurofibromatosis Type 1: a case report
    BMC, 2017
    Co-Authors: Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni
    Abstract:

    Abstract Background Neurofibromatosis Type 1 is a relatively common inherited disorder. Patients with Neurofibromatosis Type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different Types is frequent in Neurofibromatosis Type 1, simultaneous occurrence of abdominal tumors of three Types in very rare. Case presentation A 66-year-old lady with Neurofibromatosis Type 1 presented with painless progressive jaundice for six months. Laboratory investigations revealed iron deficiency anemia and conjugated hyperbilirubinemia. Tumor markers were normal. Abdominal computed tomography showed a 3 × 2 cm heterogenous mass in the periampullary region with mild dilation of the common bile duct and another 2 × 1.7 cm mass in the fourth portion of the duodenum. Endoscopic biopsy confirmed the diagnosis of periampullary carcinoid. At surgery, multiple small nodules were detected at the hepatic hilum. Frozen section suggested them to be neurofibromas. Patient underwent pancreatoduodenectomy and had uneventful recovery with no recurrence at two months. Microscopic examination of the resected specimen confirmed presence of three tumors: periampullary well differentiated neuroendocrine tumor, gastrointestinal stromal tumor of the fourth part of duodenum and plexiform neurofibroma at the hepatic hilum. Conclusion Patients of Neurofibromatosis Type 1 with abdominal symptoms should be treated with high index of clinical suspicion and thoroughly evaluated to rule out multiple tumors

Bruce R. Korf - One of the best experts on this subject based on the ideXlab platform.

  • health supervision for children with Neurofibromatosis Type 1
    Pediatrics, 2019
    Co-Authors: David T Miller, David Viskochil, Elizabeth K Schorry, Debra Freedenberg, Nicole J Ullrich, Bruce R. Korf
    Abstract:

    Neurofibromatosis Type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The condition is usually recognized in early childhood, when pigmentary manifestations emerge. Although NF1 is associated with marked clinical variability, most children affected follow patterns of growth and development within the normal range. Some features of NF1 can be present at birth, but most manifestations emerge with age, necessitating periodic monitoring to address ongoing health and developmental needs and minimize the risk of serious medical complications. In this report, we provide a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of NF1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the health and quality of life of a child affected.

  • Neurofibromatosis Type 1
    Nature Reviews Disease Primers, 2017
    Co-Authors: David H Gutmann, Bruce R. Korf, Rosalie E Ferner, Robert Listernick, Pamela L Wolters, Kimberly J Johnson
    Abstract:

    Neurofibromatosis Type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with Neurofibromatosis Type 1 develop pigmentary lesions (cafe-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life. With the identification of NF1 and the generation of accurate preclinical mouse strains that model some of these clinical features, therapies that target the underlying molecular and cellular pathophysiology for Neurofibromatosis Type 1 are becoming available. Although no single treatment exists, current clinical management strategies include early detection of disease phenoTypes (risk assessment) and biologically targeted therapies. Similarly, new medical and behavioural interventions are emerging to improve the quality of life of patients. Although considerable progress has been made in understanding this condition, numerous challenges remain; a collaborative and interdisciplinary approach is required to manage individuals with Neurofibromatosis Type1 and to develop effective treatments.

  • Neurofibromatosis Type 1
    Journal of The American Academy of Dermatology, 2009
    Co-Authors: Kevin P Boyd, Bruce R. Korf, Amy Theos
    Abstract:

    Neurofibromatosis Type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While no medical therapies for NF1 are currently available, trials are ongoing to discover and test medical treatments for the various manifestations of NF1, primarily plexiform neurofibromas, learning disabilities, and optic pathway gliomas. In addition, mutational analysis has become available on a clinical basis and is useful for diagnostic confirmation in individuals who do not fulfill diagnostic criteria or when a prenatal diagnosis is desired. There are several disorders that may share overlapping features with NF1; in 2007, a disorder with cutaneous findings similar to NF1 was described. This paper addresses the dermatologist's role in diagnosis and management of NF1 and describes the variety of cutaneous and extracutaneous findings in NF1 to which the dermatologist may be exposed. Learning objectives After completing this learning activity, participants should be able to discuss the indications and limitations of genetic testing in Neurofibromatosis Type 1, distinguish common and uncommon cutaneous findings, and recognize the dermatologist's role in diagnosis and management.

  • Neurofibromatosis Type 1 revisited
    Pediatrics, 2009
    Co-Authors: Virginia Williams, Bruce R. Korf, David H Gutmann, John T Lucas, Michael A Babcock, Bernard L Maria
    Abstract:

    Neurofibromatosis Type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of 1 per 2500 to 3000 individuals. Caused by a germ-line‐ inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical features of Neurofibromatosis Type 1. Moreover, improved understanding of how the Neurofibromatosis Type 1 protein, neurofibromin, regulates cell growth recently provided insight into the pathogenesis of the disease and has led to the development of new therapies. In this review, we describe the clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with Neurofibromatosis Type 1. Pediatrics 2009;123:124‐133

  • Pathophysiology of Neurofibromatosis Type 1.
    Annals of internal medicine, 2006
    Co-Authors: Amy Theos, Bruce R. Korf
    Abstract:

    Neurofibromatoses are inherited disorders, designated as Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2, and schwannomatosis, that tend to result in benign tumors of the nerve sheath. Muc...

Nihed Abdessayed - One of the best experts on this subject based on the ideXlab platform.

  • rare triad of periampullary carcinoid duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in Neurofibromatosis Type 1 a case report
    BMC Cancer, 2017
    Co-Authors: Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni
    Abstract:

    Background Neurofibromatosis Type 1 is a relatively common inherited disorder. Patients with Neurofibromatosis Type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different Types is frequent in Neurofibromatosis Type 1, simultaneous occurrence of abdominal tumors of three Types in very rare.

  • Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in Neurofibromatosis Type 1: a case report
    BMC, 2017
    Co-Authors: Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni
    Abstract:

    Abstract Background Neurofibromatosis Type 1 is a relatively common inherited disorder. Patients with Neurofibromatosis Type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different Types is frequent in Neurofibromatosis Type 1, simultaneous occurrence of abdominal tumors of three Types in very rare. Case presentation A 66-year-old lady with Neurofibromatosis Type 1 presented with painless progressive jaundice for six months. Laboratory investigations revealed iron deficiency anemia and conjugated hyperbilirubinemia. Tumor markers were normal. Abdominal computed tomography showed a 3 × 2 cm heterogenous mass in the periampullary region with mild dilation of the common bile duct and another 2 × 1.7 cm mass in the fourth portion of the duodenum. Endoscopic biopsy confirmed the diagnosis of periampullary carcinoid. At surgery, multiple small nodules were detected at the hepatic hilum. Frozen section suggested them to be neurofibromas. Patient underwent pancreatoduodenectomy and had uneventful recovery with no recurrence at two months. Microscopic examination of the resected specimen confirmed presence of three tumors: periampullary well differentiated neuroendocrine tumor, gastrointestinal stromal tumor of the fourth part of duodenum and plexiform neurofibroma at the hepatic hilum. Conclusion Patients of Neurofibromatosis Type 1 with abdominal symptoms should be treated with high index of clinical suspicion and thoroughly evaluated to rule out multiple tumors

Mounir Trimech - One of the best experts on this subject based on the ideXlab platform.

  • rare triad of periampullary carcinoid duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in Neurofibromatosis Type 1 a case report
    BMC Cancer, 2017
    Co-Authors: Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni
    Abstract:

    Background Neurofibromatosis Type 1 is a relatively common inherited disorder. Patients with Neurofibromatosis Type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different Types is frequent in Neurofibromatosis Type 1, simultaneous occurrence of abdominal tumors of three Types in very rare.

  • Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in Neurofibromatosis Type 1: a case report
    BMC, 2017
    Co-Authors: Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni
    Abstract:

    Abstract Background Neurofibromatosis Type 1 is a relatively common inherited disorder. Patients with Neurofibromatosis Type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different Types is frequent in Neurofibromatosis Type 1, simultaneous occurrence of abdominal tumors of three Types in very rare. Case presentation A 66-year-old lady with Neurofibromatosis Type 1 presented with painless progressive jaundice for six months. Laboratory investigations revealed iron deficiency anemia and conjugated hyperbilirubinemia. Tumor markers were normal. Abdominal computed tomography showed a 3 × 2 cm heterogenous mass in the periampullary region with mild dilation of the common bile duct and another 2 × 1.7 cm mass in the fourth portion of the duodenum. Endoscopic biopsy confirmed the diagnosis of periampullary carcinoid. At surgery, multiple small nodules were detected at the hepatic hilum. Frozen section suggested them to be neurofibromas. Patient underwent pancreatoduodenectomy and had uneventful recovery with no recurrence at two months. Microscopic examination of the resected specimen confirmed presence of three tumors: periampullary well differentiated neuroendocrine tumor, gastrointestinal stromal tumor of the fourth part of duodenum and plexiform neurofibroma at the hepatic hilum. Conclusion Patients of Neurofibromatosis Type 1 with abdominal symptoms should be treated with high index of clinical suspicion and thoroughly evaluated to rule out multiple tumors