Materiały źródłowe

• #1 Pathology Outlines – Neurofibroma-general

  https://www.pathologyoutlines.com/topic/softtissueneurofibroma.html

  Neurofibroma is a benign peripheral nerve sheath tumor comprised of neuronal and fibrous components. […] All demographic groups are affected. M = F. 90% of cases occur sporadically, while the remaining cases are associated with neurofibromatosis type 1. […] Majority of solitary lesions are sporadic. Localized lesions most commonly occur in 20 – 40 year old adults. Multiple lesions are inherited in individuals with neurofibromatosis type 1. Diffuse and plexiform types occur more frequently in children with neurofibromatosis type 1.

• #2 Neurofibromatosis Type 1: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177266-overview

  The estimated incidence of neurofibromatosis type 1 (NF1) is 1 in 3000, but the actual frequency may be higher because of less than complete ascertainment of mildly affected individuals. Approximately half of affected individuals represent first cases in the family as a result of a new genetic event or mutation. […] All races and ethnic backgrounds are affected equally. However, evidence indicates that the risk for optic nerve glioma is lower in African Americans than in Caucasians and Hispanics. […] Males and females are affected equally with this autosomal dominant condition. However, one study showed that female patients with NF1-associated optic glioma were twice as likely to undergo brain magnetic resonance imaging for visual symptoms and three times more likely to require treatment for visual decline than their male counterparts.

• #3 Neurofibroma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/neurofibroma?lang=us

  Peak presentation of sporadic localized intraneural neurofibromas is between 20 and 30 years of age with no sex predilection. […] When in the setting of neurofibromatosis type 1 they appear earlier, generally in early childhood. […] The majority of localized intraneural neurofibromas are solitary and sporadic and not associated with neurofibromatosis type 1. However, when multiple neurofibromas are present (or plexiform neurofibromas) then the diagnosis of neurofibromatosis type 1 is almost assured.

• #4

  https://www.orthobullets.com/pathology/8056/neurofibroma

  Neurofibromas are benign peripheral nerve sheath tumors most commonly associated with neurofibromatosis. […] Epidemiology […] sporadic neurofibromas […] age 20-40 years […] Neurofibromatosis (NF1) […] age 20. […] Anatomic location […] sporadic neurofibromas […] peripheral PNS tumors of the extremities […] Neurofibromatosis (NF1) […] tendency to be found near spinal cord/brain (CNS) and uncommon locations (parotid glands, tongue).

• #5 Nervous System: Neurofibroma

  https://atlasgeneticsoncology.org/solid-tumor/5098/nervous-system-neurofibroma

  Neurofibromas are rare in children, but start develop in puberty. […] Up to thousands of neurofibromas can develop in one adult NF1 patient. […] In contrast to dermal neurofibromas, PNF are often congenital and may develop already before birth. […] Plexiform neurofibromas develop in approximately 30% of NF1 patients. […] While dermal neurofibromas mostly appear during adolescence, PNF are mainly congenital though some of them become apparent later. […] Annual examination helps to detect first indication of possible spinal cord compression. […] Regular MRI is important for early detection of malignant transformation. […] There is a risk of malignant transformation in PNF, leading to malignant peripheral nerve sheath tumors.

• #6

  https://link.springer.com/article/10.1007/s00508-024-02443-0

  Neurofibromatosis type 1 (NF1) is a rare autosomal dominant tumor predisposition syndrome with a birth prevalence of approximately 1 in 2000-3000 individuals. […] Both standardized and individual surveillance programs are therefore highly important to prevent morbidity and mortality in patients with NF1. […] Surveillance is therefore of utmost importance in the management of individuals with NF1 and is fundamental for the clinical management. […] Both standardized and individual screening approaches are therefore of importance to limit morbidity and mortality in NF1. […] The 2023 European Reference Network on Genetic Tumor Risk Syndromes (ERN GENTURIS) tumor surveillance guidelines for individuals with NF1 provide a valuable, evidence-based decision-making resource for physicians treating patients with NF1.

• #7 Neurofibromatosis type 1 adult surveillance form for Austria | springermedizin.at

  https://www.springermedizin.at/neurofibromatosis-type-1-adult-surveillance-form-for-austria/27688560

  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. […] Surveillance is therefore of utmost importance in the management of individuals with NF1 and is fundamental for the clinical management. […] Both standardized and individual screening approaches are therefore of importance to limit morbidity and mortality in NF1. […] The recently published ERN GENTURIS tumor surveillance guidelines for individuals with NF1 provide compelling evidence for the proposed screening efforts.

• #8 Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02911-2

  Pooled NF1 prevalence was 1 in 3,164 (95%CI: 1 in 2,132-1 in 4,712). […] NF1 pooled birth incidence was 1 in 2,662 (95%CI: 1 in 1,968-1 in 3,601). […] Pooled NF2 birth incidence was 1.08 per 50,000 births (95%CI: 1 in 32,829-1 in 65,019). […] The prevalence of NF1 from screening studies is higher than from medical record studies, suggesting that the disease may be under recognized. […] More studies are needed regarding the prevalence of NF2. […] The incidence and prevalence of NF1 and NF2 has been studied in several regions. […] NF1 is commonly accepted to be one of the most common autosomal dominant disorders, with estimated minimum prevalence between 1 and 3,000 to 1 in 4,000 people and incidence of 1 in 2,500 births. […] The estimated prevalence of NF2 is much lower, approximately 1 in 60,000.

• #9 Neurofibromatosis Type 1: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177266-overview

  The estimated incidence of neurofibromatosis type 1 (NF1) is 1 in 3000, but the actual frequency may be higher because of less than complete ascertainment of mildly affected individuals. Approximately half of affected individuals represent first cases in the family as a result of a new genetic event or mutation. […] All races and ethnic backgrounds are affected equally. However, evidence indicates that the risk for optic nerve glioma is lower in African Americans than in Caucasians and Hispanics. […] Males and females are affected equally with this autosomal dominant condition. However, one study showed that female patients with NF1-associated optic glioma were twice as likely to undergo brain magnetic resonance imaging for visual symptoms and three times more likely to require treatment for visual decline than their male counterparts.

• #10 Neurofibromatosis type 1 epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Neurofibromatosis_type_1_epidemiology_and_demographics

  Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide. […] The incidence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide. […] The incidence of neurofibromatosis type 1 is approximately 14-26 per 100,000 individuals in the United States. […] The prevalence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide. […] Prevalence can vary from one country to another, being 104.1 per 100,000 individuals in Israel to 12.8 per 100,000 individuals in Russia. […] Neurofibromatosis type 1 decreases life expectancy in approximately 15-20 years from a normal person. […] The mean annual frequency of neurofibromatosis type 1-associated deaths was 9.3 per 100,000 deaths.

• #11

  https://link.springer.com/article/10.1007/s10072-021-05361-5

  Patients with neurofibromatosis type-1 (NF-1) and associated plexiform neurofibromas (PNs) often have a high burden of illness owing to debilitating symptoms of these tumors and limited management options. […] Evidence confirmed NF-1 is rare but that occurrence may differ geographically. […] Prevalence estimates for pediatric NF-1 varied from one per 960 individuals (aged 17 years) to one per 5681 children (aged 16 years) across five large registry/surveillance studies (each involving 19,000 individuals). […] The prevalence of associated PNs was 0-29.6%. […] PNs carried increased mortality risk in pediatric NF-1 in both studies that explored this potential association. […] Data suggest NF-1 is a rare disease with increased morbidity and mortality in children with associated PNs. […] These findings suggest significant unmet needs in patients with NF-1-associated PNs.

• #12 Plexiform neurofibroma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/plexiform-neurofibroma?lang=us

  Plexiform neurofibromas are usually diagnosed in early childhood. They are found in approximately 30% of patients with NF1. […] The mode and frequency of surveillance for patients with NF1 but without diagnosed optic pathway gliomas varies depending on local preference and resources. The European Reference Network on Genetic Tumor Risk Syndromes (ERN GENTURIS) 2023 guidelines suggest the following: clinical assessment for plexiform neurofibromas should begin at diagnosis or birth and be carried out at every clinical visit by clinicians with NF1 expertise, using observation, palpation, and neurological examination; photography or video can be useful adjuncts to these assessments […] imaging by whole-body MRI should be performed at least during the transition from childhood to adulthood predict the risk of future malignant peripheral nerve sheath tumor (MPNST) based on internal tumor burden

• #13 ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9845795/

  Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder, predisposing development of benign and malignant tumours. Given the oncogenic potential, long-term surveillance is important in patients with NF1. […] This guideline aims to assimilate available information on NF1 associated tumours (based on evidence and/or expert opinion) to assist healthcare professionals in undertaking tumour surveillance of NF1 individuals. […] Given the potential for tumour development, long-term surveillance is of utmost importance both in children and in adults with NF1. […] It is important not to delay assessment for patients who are at risk of serious complications; monitoring, surveillance and management of individuals with NF1 requires a multidisciplinary approach and specific guidance adapted to the specific risks and natural history of the disease.

• #14

  https://link.springer.com/article/10.1007/s00508-024-02443-0

  The striking heterogeneity, ranging from asymptomatic disease course over decades, to burdensome and sometimes life-threatening complications at a young age necessitates targeted surveillance efforts for children, adolescents and adults with NF1. Indeed, early detection of malignancies has proven to be the most valuable resource to mitigate morbidity and mortality in NF1 to date.

• #15 Plexiform neurofibroma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/plexiform-neurofibroma?lang=us

  if no internal plexiform neurofibromas are detected at this time, only clinical assessment is required […] if internal plexiform neurofibromas are detected then periodic repeat imaging should be performed based on local preference and guided by a multidisciplinary team […] symptomatic plexiform neurofibromas would be monitored more frequently ideally with FDG PET-MRI if available, or failing that then FDG PET-CT.

• #16 Surveillance for Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/treatments/surveillance-for-neurofibromatosis

  Surveillancemeaning that doctors carefully monitor your condition but do not treat itmay be an option in people with neurofibromatosis type 1, neurofibromatosis type 2, or schwannomatosis. […] In determining a surveillance approach, NYU Langone doctors consider each persons individual symptoms, as well as other factors such as the persons age. […] NYU Langone doctors recommend that children with neurofibromatosis type 1 have physical examinations at least twice a year until age five and then at least once a year after that. […] Children with neurofibromatosis type 1 should also undergo yearly neurologic exams, which may help to detect the presence of tumors forming on the nerves, and ophthalmologic evaluations, which can help detect tumors on the optic nerves or Lisch nodules, which arise as bumps on the iris.

• #17 Neurofibromatosis type 1 (NF1): Management and prognosis – UpToDate

  https://www.uptodate.com/contents/neurofibromatosis-type-1-nf1-management-and-prognosis

  Annual surveillance for all children with NF1 […] Surveillance for adults with NF1 […] Longitudinal care for persons with NF1 aims at the early detection and symptomatic treatment of complications as they occur.

• #18 ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9845795/

  Given the low prevalence of the condition, its many potential manifestations and rare complications, decisions about management should always include discussion with the local multidisciplinary teams including an NF1 experts. […] The proposed recommendations for tumour surveillance for NF1 require a coordinated multidisciplinary approach and significant patient commitment.

• #19 Self-reported access to specialty clinics and receipt of health surveillance among U.S. patients with neurofibromatosis 1: A national survey | medRxiv

  https://www.medrxiv.org/content/10.1101/2024.08.15.24312077v1

  Neurofibromatosis 1 (NF1) is a rare, neurogenetic disorder predisposing individuals to central and peripheral nervous system tumors, as well as a wide range of other physical, neurocognitive, and psychosocial issues. Regular health monitoring throughout the lifespan is needed to identify these heterogenous disease complications, but the degree to which this is implemented in routine clinical practice is unknown. This, this study aimed to investigate U.S. patients access to specialized NF1 clinics and receipt of evidence-informed health surveillance. […] We estimate that 51.7% of children and 35.6% of adults attend NF1 clinics. […] Adults with NF1 experience significant sociodemographic disparities in care, and patients of all ages attending NF1 specialty clinics receive more recommended health surveillance. Given the limited access to specialty NF clinics, quality improvement efforts are needed to increase access for underserved adults and improve provision of recommended health surveillance outside specialty clinics.

• #20 Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)

  https://ctv.veeva.com/study/surveillance-for-malignant-transformation-of-neurofibromatosis-type-1-nf1-related-peripheral-nerve

  Patients with NF1 are at risk for the development of both benign and malignant peripheral nerve sheath tumors (MPNST). […] However, there is not currently a consensus in the field about the most appropriate clinical surveillance or management strategy for these patients at increased risk of malignancy. […] This is an observational study to identify risk factors associated with severe disease in NF1 and to assess the feasibility of a novel NF1 Increased MPNST Risk Surveillance and Management Algorithm to aid in the surveillance and management of participants with NF1.

• #21 NF1 (Neurofibromatosis type 1) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/752-nf1-neurofibromatosis-type-1-risk-manageme

  In NF1 there is an increased risk of a broad range of cancers/tumours. […] The overall risk of cancer was 2.7 times higher in this cohort of NF1 patients than in the general population. […] The cumulative risk of a malignancy by age 50 years was 20%. […] The lifetime risk of MPNST in NF1 is much higher than previously estimated and warrants careful surveillance and a low threshold for investigation.

• #22 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  NF1 occurs in approximately one out of every 3,500 births […] NF2 occurs in approximately one out of every 40,000 births […] Schwannomatosis occurs an estimated one out of every 40,000 births […] There is a 50-percent chance that each child of a parent with NF1 or NF2 will inherit the gene and develop NF1 or NF2 (respectively) this is known as autosomal dominant inheritance pattern […] Tumors in these disorders are overwhelmingly benign; they may be/become malignant in 3 to 5 percent of all cases […] About one-third of people with NF notice no symptoms.

• #23 NF1 (Neurofibromatosis type 1) – risk management

  https://www.eviq.org.au/cancer-genetics/adult/risk-management/752-nf1-neurofibromatosis-type-1-risk-manageme

  Neurofibromatosis type 1 (NF1) is an autosomal dominant benign and malignant tumour predisposition syndrome, characterised by the development of benign peripheral nerve sheath tumours (neurofibromas). […] The care of an individual who has developed a related tumour or cancer should be individualised based on their clinical situation, their family history and the monitoring they need as part of their treatment and post-treatment follow-up. […] The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised. […] There is a lack of data about the optimal surveillance for individuals with NF1. […] There is some evidence for genotype-phenotype correlation, however there is currently insufficient data to support variant-specific surveillance protocols.

• #24

  https://link.springer.com/article/10.1007/s10072-021-05361-5

  Across the 14 studies providing data on the epidemiology of NF-1, there was only limited evidence (two studies) on the birth incidence of NF-1. […] Overall, the available global epidemiology evidence confirmed that NF-1 is a rare condition but with an occurrence that may differ markedly across countries. […] It also showed that PNs are both common and potentially life-limiting in pediatric cases. […] Estimates of the prevalence of NF-1 generally varied with study size. […] The identified epidemiology studies were heterogeneous with regard to key characteristics, including variation in sample sizes (and therefore, possibly, the generalizability of any findings), differences in the age groups studied, and study procedures (e.g., case detection methods). […] The limited number of epidemiology estimates and the lack of global data on the burden of pain from real-world settings specifically highlight the need for further research on these topics.

• #25 Plexiform Neurofibroma – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506040-plexiform-neurofibroma-market-insight-epidemiology.html

  The Plexiform Neurofibroma epidemiology division provide insights about historical and current Plexiform Neurofibroma patient pool and forecasted trend for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken. […] The disease epidemiology covered in the report provides historical as well as forecasted Plexiform Neurofibroma epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034. […] The epidemiology segment also provides the Plexiform Neurofibroma epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

• #26 Plexiform Neurofibroma – Market Insight, Epidemiology and Market Forecast – 2034

  https://www.researchandmarkets.com/reports/5799239/plexiform-neurofibroma-market-insight?srsltid=AfmBOooaPpDmTB9aoME2iuJtdzrFyxpGfOpmTHCE-s0H9jBYZvBXuRVn

  The Plexiform Neurofibroma epidemiology division provide insights about historical and current Plexiform Neurofibroma patient pool and forecasted trend for every seven major countries. […] The disease epidemiology covered in the report provides historical as well as forecasted Plexiform Neurofibroma epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034. […] The epidemiology segment also provides the Plexiform Neurofibroma epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan. […] The report covers the descriptive overview of Plexiform Neurofibroma, explaining its causes, signs and symptoms, pathophysiology, diagnosis and currently available therapies.

• #27 ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9845795/

  This guideline aims to improve quality of care by presenting information to assist healthcare professionals in tumour surveillance and management of individuals with NF1 in an attempt to provide equity in healthcare for all patients with NF1. […] The guideline specifically aims to integrate available evidence-based and or expert opinion-based information to assist healthcare professionals in regard to tumour surveillance of individuals with a confirmed NF1 diagnosis. […] The guideline is a comprehensive literature review based on an existing literature review of Bergqvist et al. […] The guideline reflects the current care for NF1 in Europe. They are not meant to be prescriptive and may be adjusted to local available resources at the treating centre, both within and outside EU countries.

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