Screening for symptomatic optic pathway glioma in children with neurofibromatosis type 1

Gutmann, David H.; Listernick, Robert; Ferner, Rosalie E.

doi:10.1038/eye.2010.227

Cited by 11 publications

(5 citation statements)

References 5 publications

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“…Here and in Tables 4-6, statistically significant differences are highlighted in bold. [12], но в 3,4 раза реже в сравнении с данными по миру [1]. Это свидетельствует как об эффективности работы центра, так и о возможных эпидемиологических особенностях НФ1 в РБ.…”

Section: таблица 1 сравнительная характеристика клинических проявлений нейрофиброматоза 1-го типа у больных в республике башкортостан (рбunclassified

“…ВВЕдЕНИЕ Нейрофиброматоз 1-го типа (НФ1) -наследственный опухолевый синдром с аутосомно-доминантным типом наследования, встречающийся в мире со средней частотой 1 : 3000 населения [1]. Болезнь вызвана мутациями в гене NF1, локализованном на 17q11.2.…”

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“…Около 5 % всех случаев НФ1 обусловлены крупными делециями, охватывающими весь ген NF1 и фланкирующие области [4]. До 50 % случаев НФ1 -спорадические, вызванные мутациями de novo [1]. Продолжительность жизни при НФ1 на 8-20 лет короче общей популяции главным образом из-за злокачественных новообразований.…”

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“…2) веснушчатость в подмышечной или паховой областях, 3) две и более кожных нейрофибромы или одна плексиформная нейрофиброма, 4) две и более гамартомы радужки глаза (узелки Лиша), 5) глиома зрительного нерва, 6) специфические костные дисплазии, 7) наличие НФ1 у родственников первой степени родства [1]. CALM определяются у 99 % больных НФ1 старше года, веснушчатость -у 90 % старше 7 лет.…”

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“…РЕзУЛьТаТы И ОбСУждЕНИЕ В РБ с населением 4 051 333 человека на учете у врача-генетика в РМГЦ в 2020 г. состояли 399 больных НФ1 из 320 семей. Частота встречаемости составила 1 : 10 153, что значительно ниже, чем в среднем по миру (1 : 3000) [1], но превышает показатели по РБ за 2009 г. (1 : 21 277) [12].…”

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Neurofibromatosis type 1: results of our own study (Republic of Bashkortostan)

Мустафин

Bermisheva²,

Valiev

et al. 2021

Usp. mol. onkol

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Introduction. Neurofibromatosis type 1 (NF1) is the most common hereditary tumor syndrome (frequency of its occurrence in the world is 1 : 3000 of the population). The main clinical manifestations of the disease are multiple café-au-lait macules on the skin and neurofibromas, skeletal abnormalities and cognitive deficits. The disease is based on mutations in the oncosuppressor gene NF1. This disease is characterized by significant clinical polymorphism of manifestations, even among members of the same family. No geno-phenotypic correlations were found for NF1. Therefore, it is assumed that modifier genes are the cause of the varying expressiveness of the disease. Materials and methods. Clinical-epidemiological and molecular-genetic research of patients with NF1 in the Republic of Bashkortostan (RB) was carried out. Sequencing was used to search for intragenic mutations in 57 exons of the NF1 gene. Microsatellite analysis was used to detect the deletion of the entire gene.Results. The frequency of occurrence of NF1 in RB was 1 : 10153 of the population. Analysis of the clinical manifestations of NF1 in RB patients showed a lower incidence of brain cysts in patients born in mixed marriages, which indicates the protective role of mestization. In patients with NF1 who inherited the disease from the mother, a more frequent development of skeletal anomalies and facial dysmorphism was determined. We identified 1 deletion of the entire NF1 gene in 1 patient and 14 intragenic mutations (c.205-1G>C, с.1278G>A, c.1369_1370insGGGTC, с.1570G>A, с.1973_1974delTC, c.2806A>T, с.2991-1G>C, c.3158C>G, с.3526_3528delAGA, с.3826delC, с.4514+5G>A, с.4537С>Т, c.5758_5761delTTGA, с.6792С>A) in 20 patients with NF1. We determined the random distribution of the types of mutations and did not reveal the specific features of the NF1 clinic depending on the type of mutations.Conclusions. The protective role of crossbreeding in relation to brain cysts, as well as the predominance of skeletal anomalies in patients with NF1 inheritance from the mother, indicate the role of modifier genes in the pathogenesis of the disease. The identified mutations in the NF1 gene will allow us to perform prenatal prevention of NF1 in RB patients.

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Neurofibromatosis type 1: results of our own study (Republic of Bashkortostan)

Мустафин

Bermisheva²,

Valiev

et al. 2021

Usp. mol. onkol

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Ocular Manifestations of Neurocutaneous Syndromes

Kandiah

Kundapur

O’Connor

2022

Neurocutaneous Disorders

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Neurofibromatosis type 1 adult surveillance form for Austria

Sunder-Plassmann,

Azizi,

Farschtschi

et al. 2024

Wien Klin Wochenschr

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Summary Background Neurofibromatosis type 1 (NF1) is a rare autosomal dominant tumor predisposition syndrome with a birth prevalence of approximately 1 in 2000–3000 individuals. Management of both benign and malignant tumors arising in individuals with NF1 is demanding and tumors may be difficult to treat. Both standardized and individual surveillance programs are therefore highly important to prevent morbidity and mortality in patients with NF1. Methods The guidelines for the clinical management of NF1 recently proposed by the European Reference Network for Genetic Tumor Risk Syndromes provide the cornerstone of the present surveillance form and were discussed through three rounds of voting and a final consensus meeting involving experts from five Austrian and one German clinical NF1 centers for adults and one patient organization representative. Subsequently, 31 items within 4 categories were integrated into the proposed surveillance form for Austria. All recommendations, unless otherwise specified, pertain to primarily asymptomatic patients in routine follow-up. Recommendations At healthcare transition from pediatric to adult surveillance or the initial visit in adulthood, we suggest a thorough clinical, laboratory and radiological examination to obtain a baseline for future diagnostics. To comply with the general screening recommendations in Austria, we suggest extending the frequency of clinical visits from annual to biennial at 50 years of age. In cases of clinical dynamics, early follow-up is recommended to facilitate early detection of potential complications. Particular emphasis should be placed on preventive patient education.

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Screening for symptomatic optic pathway glioma in children with neurofibromatosis type 1

Cited by 11 publications

References 5 publications

Neurofibromatosis type 1: results of our own study (Republic of Bashkortostan)

Neurofibromatosis type 1: results of our own study (Republic of Bashkortostan)

Ocular Manifestations of Neurocutaneous Syndromes

Neurofibromatosis type 1 adult surveillance form for Austria

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