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Dermatologic Manifestations of Neurofibromatosis Type 1 and Emerging Treatments

CANCERS (2023)

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Malignant peripheral nerve sheath tumor: models, biology, and translation

Bandarigoda N. Somatilaka et al.

Summary: This article provides an overview of the biology and genetics of malignant peripheral nerve sheath tumors (MPNSTs), discusses research findings regarding their developmental origin, summarizes the various model systems used to study MPNSTs, and discusses current management strategies and recent developments in translating basic research findings into potential therapies.

ONCOGENE (2022)

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Article Psychology, Multidisciplinary

Sexual Self-Esteem and Psychological Burden of Adults With Neurofibromatosis Type 1

Anna Leidger et al.

Summary: This study investigated the relationship between skin tumors, sexuality, and psychosocial factors in individuals with NF1. The results showed a significant correlation between sexuality, mental health, and depressive symptoms in NF1 patients.

FRONTIERS IN PSYCHOLOGY (2022)

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Letter Dermatology

Neurofibromatosis Type 1 and Risk of Skin Cancer

Pavin Trinh et al.

JAMA DERMATOLOGY (2022)

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Article Dermatology

Neurofibromatosis type 1: New developments in genetics and treatment

Britney N. Wilson et al.

Summary: Neurofibromatosis type 1 is a common disorder that requires early diagnosis for proper guidance on preventive measures. Mutations in the NF1 gene lead to loss of function of the neurofibromin protein, which affects the regulation of the RAS signaling pathway. Treatment options include drugs and radiofrequency therapy.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2021)

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Letter Dermatology

Subungual glomus tumors: Underrecognized clinical findings in neurofibromatosis 1

Shari R. Lipner et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2021)

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Review Oncology

Cutaneous Findings in Neurofibromatosis Type 1

Bengisu Ozarslan et al.

Summary: Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder with a wide range of clinical manifestations and complications. There is still no specific treatment defined, requiring a multidisciplinary approach for optimal care.

CANCERS (2021)

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Article Oncology

FDA Approval Summary: Selumetinib for Plexiform Neurofibroma

Denise Casey et al.

Summary: The FDA approved selumetinib for pediatric patients with neurofibromatosis type 1 who have inoperable plexiform neurofibromas. The approval was based on a single-arm multicenter trial showing clinical improvements and a durable overall response rate. The risks of selumetinib are consistent with MEK inhibitor class effects, with favorable benefit-risk assessment for patients with inoperable plexiform neurofibromas.

CLINICAL CANCER RESEARCH (2021)

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Article Medicine, General & Internal

Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020

Jace P. Landry et al.

Summary: This study investigated the prevalence of neoplasms and outcomes among patients with NF1, finding that these patients develop various tumors at a younger age and more frequently than the general population. Patients with certain neoplasms like undifferentiated pleomorphic sarcoma, high-grade glioma, and malignant peripheral nerve sheath tumor had significantly lower disease-specific survival rates.

JAMA NETWORK OPEN (2021)

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Article Genetics & Heredity

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius et al.

Summary: The study revised the diagnostic criteria for neurofibromatosis type 1 (NF1) and established criteria for Legius syndrome (LGSS) by combining major developments in genetics, ophthalmology, dermatology, and neuroimaging. Consensus on minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS was reached, with recommendations for mosaic forms of these conditions. Continued refinement of these new criteria will be necessary to study their diagnostic properties, reconsider criteria not included, and identify new features of the conditions, hence proposing an initiative to periodically update the diagnostic criteria for NF1 and LGSS.

GENETICS IN MEDICINE (2021)

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Review Biochemistry & Molecular Biology

Toward Understanding the Mechanisms of Malignant Peripheral Nerve Sheath Tumor Development

Teddy Mohamad et al.

Summary: This review article summarizes the natural history of malignant peripheral nerve sheath tumors (MPNSTs), discusses mouse models representing the progression to MPNST, explores the role of the tumor microenvironment in MPNST development, and examines the signaling pathways associated with MPNST development.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Medicine, General & Internal

Recent Advances in the Treatment of Melanoma

Brendan D. Curti et al.

Summary: Improvements in management have led to increased survival rates for melanoma, with advances such as sentinel-node sampling and targeted therapy reducing morbidity and enhancing treatment outcomes for advanced disease.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Article Surgery

Photodynamic Therapy for Benign Cutaneous Neurofibromas Using Aminolevulinic Acid Topical Application and 633 nm Red Light Illumination

Brendan Quirk et al.

Summary: Neurofibromatosis type 1 (NF1) currently lacks effective treatments, but topical photodynamic therapy (PDT) shows potential for treating cutaneous neurofibromas with less invasiveness. This study conducted a phase I trial to examine the absorption and safety of topical aminolevulinic acid (ALA) in neurofibromas, demonstrating specific targeting of neurofibromas and potential for future tissue-sparing treatment modalities.

PHOTOBIOMODULATION PHOTOMEDICINE AND LASER SURGERY (2021)

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Letter Dermatology

Successful treatment of cutaneous (dermal) neurofibromas with imatinib mesylate

Geetika Chhabra et al.

DERMATOLOGIC THERAPY (2020)

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Review Genetics & Heredity

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Christina Bergqvist et al.

ORPHANET JOURNAL OF RARE DISEASES (2020)

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Article Multidisciplinary Sciences

The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1

Lennart Well et al.

PLOS ONE (2020)

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Article Oncology

Longitudinal evaluation of peripheral nerve sheath tumors in neurofibromatosis type 1: growth analysis of plexiform neurofibromas and distinct nodular lesions

Srivandana Akshintala et al.

NEURO-ONCOLOGY (2020)

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Article Oncology

The Use of MEK Inhibitors in Neurofibromatosis Type 1-Associated Tumors and Management of Toxicities

Laura J. Klesse et al.

ONCOLOGIST (2020)

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Article Oncology

Glomus tumors with malignant features of the extremities: a case series

Taylor R. Wood et al.

CLINICAL SARCOMA RESEARCH (2020)

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Review Orthopedics

An exceptional case of malignant glomus tumor and a review of the literature

Federico Sacchetti et al.

ACTA ORTHOPAEDICA ET TRAUMATOLOGICA TURCICA (2019)

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Review Clinical Neurology

Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study

Akram Sanagoo et al.

BMC NEUROLOGY (2019)

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Article Medicine, General & Internal

The Diagnosis and Management of Neurofibromatosis Type 1

K. Ina Ly et al.

MEDICAL CLINICS OF NORTH AMERICA (2019)

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Article Medicine, Research & Experimental

Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1

Bahir H. Chamseddin et al.

JCI INSIGHT (2019)

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Article Genetics & Heredity

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Douglas R. Stewart et al.

GENETICS IN MEDICINE (2018)

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Article Oncology

Programmed death ligand 1 expression and tumor infiltrating lymphocytes in neurofibromatosis type 1 and 2 associated tumors

Shiyang Wang et al.

JOURNAL OF NEURO-ONCOLOGY (2018)

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Article Clinical Neurology

Cutaneous neurofibromas Current clinical and pathologic issues

Nicolas Ortonne et al.

NEUROLOGY (2018)

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Meeting Abstract Oncology

SPRINT: Phase II study of the MEK 1/2 inhibitor selumetinib (AZD6244, ARRY-142886) in children with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PN).

Andrea M. Gross et al.

JOURNAL OF CLINICAL ONCOLOGY (2018)

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Article Pharmacology & Pharmacy

Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial

John M. Slopis et al.

DRUGS IN R&D (2018)

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Article Psychology, Developmental

Psychosocial functioning, self-image, and quality of life in children and adolescents with neurofibromatosis type 1

S. Cipolletta et al.

CHILD CARE HEALTH AND DEVELOPMENT (2018)

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Article Dermatology

The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study

Carmen Liy-Wong et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2017)

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Article Medicine, Research & Experimental

The NF1 gene in tumor syndromes and melanoma

Maija Kiuru et al.

LABORATORY INVESTIGATION (2017)

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Article Multidisciplinary Sciences

Whole-genome landscapes of major melanoma subtypes

Nicholas K. Hayward et al.

NATURE (2017)

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Article Oncology

Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations

Ioana Cosgarea et al.

ONCOTARGET (2017)

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Article Multidisciplinary Sciences

The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation

Andrew S. Brohl et al.

SCIENTIFIC REPORTS (2017)

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Article Hematology

Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E)

Joonhee Park et al.

BLOOD (2017)

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Article Dermatology

Primary Cutaneous Follicular Helper T-cell Lymphoma in a Patient With Neurofibromatosis Type 1: Case Report and Review of the Literature

Anastasia Shamsuyarova et al.

AMERICAN JOURNAL OF DERMATOPATHOLOGY (2017)

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Editorial Material Dermatology

Clinical Characteristics of Pruritus in Neurofibromatosis 1

Emilie Brenaut et al.

ACTA DERMATO-VENEREOLOGICA (2016)

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Article Clinical Neurology

Methylation-based classification of benign and malignant peripheral nerve sheath tumors

Manuel Roehrich et al.

ACTA NEUROPATHOLOGICA (2016)

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Article Surgery

The use of electrodessication in the treatment of cutaneous neurofibromatosis: A retrospective patient satisfaction outcome assessment

C. G. Lutterodt et al.

JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY (2016)

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Article Medicine, General & Internal

Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas

Eva Dombi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2016)

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Review Pediatrics

Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis

Jesse Lee Kresak et al.

JOURNAL OF PEDIATRIC GENETICS (2016)

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Article Pathology

Malignant Peripheral Nerve Sheath Tumor (MPNST) Arising in Diffuse-type Neurofibroma Clinicopathologic Characterization in a Series of 9 Cases

Inga-Marie Schaefer et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2015)

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Review Pathology

Clinical and Histopathological Diagnosis of Glomus Tumor: An Institutional Experience of 138 Cases

Marco Mravic et al.

INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY (2015)

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Article Genetics & Heredity

Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

Michael Krauthammer et al.

NATURE GENETICS (2015)

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Article Dermatology

Glomus tumors in individuals with neurofibromatosis type 1

Monique G. Kumar et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2014)

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Article Engineering, Biomedical

Comparative study of CO2- and Er:YAG laser ablation of multiple cutaneous neurofibromas in von Recklinghausen's disease

Lukas K. Kriechbaumer et al.

LASERS IN MEDICAL SCIENCE (2014)

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Article Pediatrics

Sirolimus Improves Pain in NF1 Patients With Severe Plexiform Neurofibromas

Camille Hua et al.

PEDIATRICS (2014)

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Article Oncology

The NF1 gene revisited - from bench to bedside

Yoon-Sim Yap et al.

ONCOTARGET (2014)

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Article Dermatology

Juvenile Xanthogranuloma and Nevus Anemicus in the Diagnosis of Neurofibromatosis Type 1

Faustine Ferrari et al.

JAMA DERMATOLOGY (2014)

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Article Surgery

Glomus Tumors and Neurofibromatosis: A Newly Recognized Association

Bridget Harrison et al.

PLASTIC AND RECONSTRUCTIVE SURGERY-GLOBAL OPEN (2014)

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Article Oncology

Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study

O. O. Seminog et al.

BRITISH JOURNAL OF CANCER (2013)

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The Association Between Glomus Tumors and Neurofibromatosis

Bridget Harrison et al.

JOURNAL OF HAND SURGERY-AMERICAN VOLUME (2013)

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Editorial Material Dermatology

Successful Treatment of Multiple Cutaneous Neurofibromas Using a Combination of Shave Excision and Laser Photothermocoagulation with a 1,444-nm Neodymium-Doped Yttrium Aluminum Garnet Laser

Hee Joo Kim et al.

DERMATOLOGIC SURGERY (2012)

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Article Dermatology

Carbon Dioxide Laser Treatment of Cutaneous Neurofibromas

Yi Zhen Chiang et al.

DERMATOLOGY AND THERAPY (2012)

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Article Dermatology

Melanoma survival in the United States, 1992 to 2005

Lori A. Pollack et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2011)

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Article Dermatology

Decreased expression of neurofibromin contributes to epithelial-mesenchymal transition in neurofibromatosis type 1

Yoshimi Arima et al.

EXPERIMENTAL DERMATOLOGY (2010)

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Article Genetics & Heredity

Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1

Douglas R. Stewart et al.

JOURNAL OF MEDICAL GENETICS (2010)

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Article Oncology

Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association

Hilde Brems et al.

CANCER RESEARCH (2009)

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Article Engineering, Biomedical

Non-excision treatment of multiple cutaneous neurofibromas by laser photocoagulation

Tarek F. Elwakil et al.

LASERS IN MEDICAL SCIENCE (2008)

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Article Cardiac & Cardiovascular Systems

NF1 regulates a ras-dependent vascular smooth muscle proliferative injury response

Junwang Xu et al.

CIRCULATION (2007)

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Article Surgery

Multicenter study of wound healing in neurofibromatosis and neurofibroma

Takeshi Miyawaki et al.

JOURNAL OF CRANIOFACIAL SURGERY (2007)

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Article Biochemistry & Molecular Biology

The tumor suppressor neurofibromin confers sensitivity to apoptosis by Ras-dependent and Ras-independent pathways

S. Shapira et al.

CELL DEATH AND DIFFERENTIATION (2007)

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Article Dermatology

NF1 tumor suppressor in epidermal wound healing with special focus on wound healing in patients with type 1 neurofibromatosis

J Koivunen et al.

ARCHIVES OF DERMATOLOGICAL RESEARCH (2005)

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Article Oncology

Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NFI patients

M Lammert et al.

BMC CANCER (2005)

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Article Oncology

Cutaneous malignant melanoma and neurofibromatosis type 1

B Guillot et al.

MELANOMA RESEARCH (2004)

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Article Genetics & Heredity

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

DGR Evans et al.

JOURNAL OF MEDICAL GENETICS (2002)

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Article Dermatology

Neurofibromatosis type 1 and mycosis fungoides

P Braam et al.

INTERNATIONAL JOURNAL OF DERMATOLOGY (2002)

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Letter Dermatology

Carbon dioxide laser for removal of multiple cutaneous neurofibromas

JC Moreno et al.

BRITISH JOURNAL OF DERMATOLOGY (2001)

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