scholarly journals Neurofibromatosis Type 1 with Massive Ventricular Polyposis: First Report in the Medical Literature

2018 ◽  
Vol 6 (1) ◽  
pp. 71-73 ◽  
Author(s):  
Georgi Tchernev ◽  
Anastasiya Atanasova Chokoeva ◽  
Uwe Wollina ◽  
Torello Lotti ◽  
Georgi Konstantinov Maximov ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurological Disorders ◽  
Autosomal Dominant ◽  
Medical Literature ◽  
Neurofibromatosis Type ◽  
Cutaneous Manifestations ◽  
Attentional Disorders ◽  
Nf1 Gene ◽  
Gastrointestinal Manifestation

BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders. The incidence of gastrointestinal manifestations of NF 1 is relatively low, compared to neurological disorders, presenting approximately in 5 to 25% of the patient, but later in life.CASE REPORT: We present a patient with NF1, ventricular polyposis and attentional disorders with cognitive phenotype, while both of her daughters also present with cutaneous manifestations of NF1.CONCLUSION: To the best of our knowledge, this is the first reported case of NF1 with ventricular polyposis as a gastrointestinal manifestation in the mother and NF1 with no signs of inner organ involvement in both of her daughters.

scholarly journals Pulmonary Hypertension and Neurofibromatosis Type 1: A Case Report with the Revision of Literature

2019 ◽  
Vol 14 (5) ◽  
Author(s):  
Walter Serra
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Molecular Mechanisms ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Nerve Sheath ◽  
Nf1 Gene ◽  
Pulmonary Arterial ◽  
Group 5

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations of the NF1 gene that can lead to the development of benign neurofibroma-like tumours and Malignant Peripheral Nerve Sheath Tumours (MPNST). Pulmonary Arterial Hypertension (PAH) is a rare but severe complication associated with NF1 (PAH-NF). PH-NF1 is classified as group 5 PH, defined as “PH with unclear and/or multifactorial mechanisms”, because the mechanisms of PH remain poorly understood. A better understanding of the genetic and molecular mechanisms underlying the disease may require new ways to develop specific therapies. We present the clinical outcomes of a 51-year old female previously diagnosed with NF1, who presented with progressively worsening dyspnea.

scholarly journals A novel disease-causing NF1 variant in a Croatian family with neurofibromatosis type 1

2019 ◽  
Vol 2 (2) ◽  
pp. 21-27
Author(s):  
Kristina Gotovac Jercic ◽  
Tamara Zigman ◽  
Sanja Delin ◽  
Goran Krakar ◽  
Vlasta Duranovic ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Phenotypic Variability ◽  
Neurofibromatosis Type ◽  
Chromosome 17 ◽  
Accurate Identification ◽  
Sequencing Technologies ◽  
Nf1 Gene ◽  
Novel Variant

Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous syndrome with the estimated prevalence ranging from 1 in 3000 to 1 in 4000 individuals and wide phenotypical variability. NF1 is caused by autosomal dominant heterozygous mutations in the neurofibromin gene which is located on the chromosome 17 (17q11.2). Phenotypically, NF1 patients have a very heterogeneous clinical phenotype. In this study, a novel frameshift NF1 variant was identified in a Croatian family with NF1 (mother and two daughters). The novel variant c. 4482_4483delTA leads to sequence change that creates a premature translational stop signal (p.His1494Glnfs*7) in the NF1 gene. Our study showed that even when the same germline NF1 variant has been identified, there is still huge phenotypic variability in patients even within the same family, and it makes prognosis of the disease more complex. The development of next-generation sequencing technologies which allow rapid and accurate identification of disease-causing mutations becomes crucial for molecular characterization of NF1 patients as well as for patient follow-up, in the context of genetic counseling and clinical management of patients.

scholarly journals Malignant Peripheral Nerve Sheath Tumor in an Army Reservist With Neurofibromatosis Type 1

2020 ◽  
Author(s):  
Chung-Ting J Kou ◽  
Matthew Rendo ◽  
Devin R Broadwater ◽  
Bradley Beeler
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Negative Regulator ◽  
Ras Signaling ◽  
Nerve Sheath Tumor ◽  
Cutaneous Manifestations ◽  
Nerve Sheath ◽  
Café Au Lait Spots ◽  
Nf1 Gene

Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant condition affecting 1 in 3,500 people resulting from an NF1 gene mutation that encodes the nonfunctional protein neurofibromin mutant. Neurofibromin is a negative regulator of RAS signaling involved in cell survival and proliferation. NF1 typically presents at birth or in early childhood with multiple light brown (café au lait) spots and axillary freckling. With age, patients may develop scattered neurofibromas as well as additional neurological and malignant abnormalities. Additionally, the nonfunctional protein neurofibromin mutant may be involved in the pathogenesis of peripheral malignant nerve sheath tumors, which is a rare and life-threatening complication of NF1. While a disqualifying condition for military duty, it may not initially be clinically apparent until complications develop. Here, we present a case of malignant peripheral sheath in an U.S. Army African American reservist with NF1 in whom cutaneous manifestations of NF1 such as café au lait spots and axillary freckling were not identified on the initial military entrance processing examination.

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1993 ◽  
Vol 92 (4) ◽  
pp. 429-430 ◽  
Author(s):  
Conxi L�zaro ◽  
Antonia Gaona ◽  
Ganfeng Xu ◽  
Robert Weiss ◽  
Xavier Estivill
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Repeat Polymorphism ◽  
Nf1 Gene

scholarly journals Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

2021 ◽  
Author(s):  
Nahla Abdel‐Aziz ◽  
Ghada El‐Kamah ◽  
Rabab Khairat ◽  
Hanan Mohamed ◽  
Yehia Gad ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Mutational Spectrum ◽  
Nf1 Gene

A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

1994 ◽  
Vol 94 (1) ◽  
pp. 97-100 ◽  
Author(s):  
Sven Hoffmeyer ◽  
Günter Assum ◽  
Dieter Kaufmann ◽  
Kirsten Schwenk ◽  
Winfrid Krone
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

scholarly journals An Update on Neurofibromatosis Type 1-Associated Gliomas

Cancers ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 114 ◽  
Author(s):  
Lobbous ◽  
Bernstock ◽  
Coffee ◽  
Friedman ◽  
Metrock ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Central Nervous System Neoplasms ◽  
Therapeutic Landscape ◽  
Nervous System Neoplasms ◽  
Collaborative Efforts

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that affects children and adults. Individuals with NF1 are at high risk for central nervous system neoplasms including gliomas. The purpose of this review is to discuss the spectrum of intracranial gliomas arising in individuals with NF1 with a focus on recent preclinical and clinical data. In this review, possible mechanisms of gliomagenesis are discussed, including the contribution of different signaling pathways and tumor microenvironment. Furthermore, we discuss the recent notable advances in the developing therapeutic landscape for NF1-associated gliomas including clinical trials and collaborative efforts.

scholarly journals Desquamative interstitial pneumonia in a non-smoker with neurofibromatosis type 1 (Von Recklinghausen syndrome)

2020 ◽  
Vol 13 (1) ◽  
pp. e227379
Author(s):  
Gustavo Ferrer ◽  
Alwiya Omar Saleh ◽  
Henry D Tazelaar ◽  
Andrea V Arrossi
Keyword(s):  
Interstitial Pneumonia ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Interstitial Fibrosis ◽  
Neurofibromatosis Type ◽  
Pulmonary Involvement ◽  
Autosomal Dominant Disorder ◽  
Systemic Manifestations ◽  
Von Recklinghausen

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with multiple systemic manifestations. Pulmonary involvement has been reported in the form of interstitial fibrosis, emphysema, pulmonary hypertension and thoracic neoplasm. We report a case of desquamative interstitial pneumonia in a non-smoker with NF1.

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