Nerwiakowłókniak – Zapobieganie i profilaktyka

Nerwiakowłókniak
Zapobieganie i profilaktyka

Nerwiakowłókniak (neurofibroma) to heterogenny guz złożony z neoplastycznych komórek Schwanna oraz nieneoplastycznych fibroblastów, komórek śródbłonka, mastocytów i kolagenu. Choroba ma podłoże genetyczne, z mutacją genu NF1 wykrywaną w 85-95% przypadków. Ryzyko dziedziczenia NF1 lub NF2 wynosi 50%, przy czym ciężkość choroby jest nieprzewidywalna, a ryzyko ciężkiego przebiegu u dziecka to około 1 na 12. Diagnostyka obejmuje testy prenatalne (biopsja kosmówki, amniocenteza), diagnostykę preimplantacyjną oraz testy genetyczne u planujących ciążę. Regularne coroczne badania kontrolne powinny obejmować ocenę oczu, skóry, pleców, układu nerwowego oraz ciśnienia tętniczego. Farmakologicznie stosuje się inhibitory MEK, takie jak selumetinib (zatwierdzony dla dzieci 2-18 lat z nieoperacyjnym nerwiakowłókniakiem pleksiformnym), które zmniejszają objętość guza i poprawiają jakość życia. Trwają badania nad profilaktycznym zastosowaniem inhibitorów MEK po resekcji chirurgicznej oraz u pacjentów z bezobjawowymi guzami w lokalizacjach wysokiego ryzyka.

<a href="#wprowadzenie-do-profilaktyki-nerwiakowłókniaka”>Wprowadzenie do profilaktyki nerwiakowłókniaka
Poradnictwo genetyczne i badania prenatalne

Metody testowania genetycznego

Monitorowanie i regularne badania kontrolne
Strategie zapobiegania wzrostowi guzów

Leczenie farmakologiczne jako forma profilaktyki
Profilaktyczne zastosowanie leków
Zapobieganie złośliwym nowotworom osłonek nerwów obwodowych

Rola procesu zapalnego w rozwoju nerwiakowłókniaków
Terapia genowa jako przyszłościowa metoda profilaktyki
Profilaktyczne zarządzanie jakością życia
Podsumowanie strategii profilaktycznych

Kolejne rozdziały

nerwiakowłókniaka”>Wprowadzenie do profilaktyki nerwiakowłókniaka

Nerwiakowłókniak (neurofibroma) to heterogenny guz składający się z neoplastycznych komórek Schwanna i nieneoplastycznych fibroblastów, komórek śródbłonka naczyniowego, komórek tucznych oraz gęstego kolagenu¹. Jako choroba o podłożu genetycznym, nerwiakowłókniak nie może być całkowicie zapobieżony przy użyciu obecnie dostępnych metod²³⁴. Niemniej jednak, istnieją strategie, które mogą zmniejszyć ryzyko wystąpienia lub progresji guzów oraz poprawić jakość życia pacjentów z tą chorobą.

Poradnictwo genetyczne i badania prenatalne

Poradnictwo genetyczne jest kluczowym elementem profilaktyki dla osób z historią rodzinną nerwiakowłókniaka⁵⁶. Ryzyko przekazania choroby przez osobę dotkniętą NF1 lub NF2 swojemu dziecku wynosi 50%, jednak nie można przewidzieć ciężkości choroby dziedziczonej⁷. Gdy weźmie się pod uwagę powikłania, które powodują długotrwałą chorobowość lub wczesną śmiertelność w NF1, ryzyko posiadania ciężko dotkniętego chorobą dziecka wynosi około 1 na 12⁸.

W przypadku, gdy rodzice mają pierwsze dotknięte chorobą dziecko znane w rodzinie, oboje powinni zostać przebadani pod kątem skórnych objawów lub guzków Lischa. Mogą oni mieć segmentalną lub mozaikową formę NF, a więc być narażeni na ryzyko posiadania kolejnego dotkniętego chorobą dziecka. Gdy nie ma objawów klinicznych, stan ich dotkniętego chorobą dziecka powstanie w wyniku nowej mutacji, a ryzyko dla rodzica posiadania kolejnego dziecka z NF1 jest niezwykle małe (mniej niż 1%)⁹.

Metody testowania genetycznego

Mutacja genu NF1 może być obecnie znaleziona w 85-95% przypadków¹⁰. Dostępne są następujące rodzaje testów:

Testy prenatalne wykorzystujące DNA płodowe pobrane z biopsji kosmówki lub z amniocentezy¹¹
Diagnostyka genetyczna preimplantacyjna¹²
Testy genetyczne dla osób planujących ciążę, jeśli u któregokolwiek z partnerów występuje nerwiakowłókniakowatość lub jeśli którykolwiek z członków rodziny cierpi na tę chorobę¹³

Należy zauważyć, że wielu pacjentów nie decyduje się na ocenę prenatalną, ponieważ nie może ona określić ciężkości choroby¹⁴. Zaleca się poradnictwo genetyczne przed poczęciem u wszystkich osób z NF¹⁵¹⁶.

Monitorowanie i regularne badania kontrolne

Regularne badania kontrolne są istotnym elementem profilaktyki wtórnej u pacjentów z nerwiakowłókniakiem. Coroczna kontrola powinna obejmować badanie¹⁷:

Oczu
Skóry
Pleców
Układu nerwowego
Ciśnienia krwi

W przypadku nerwiakowłókniaków łagodnych (nienowotworowych), lekarze mogą zalecić regularne badania kontrolne w celu monitorowania objawów¹⁸. Jest to szczególnie ważne, ponieważ wczesne wykrycie zmian może prowadzić do szybszej interwencji i potencjalnie lepszych wyników leczenia.

Strategie zapobiegania wzrostowi guzów

Leczenie farmakologiczne jako forma profilaktyki

Chociaż nie można zapobiec rozwojowi nerwiakowłókniaków, istnieją obiecujące strategie farmakologiczne, które mogą pomóc w kontroli wzrostu guzów i zapobieganiu powikłaniom¹⁹:

Inhibitory MEK – wykazują znaczącą skuteczność w zmniejszaniu objętości guza i poprawie jakości życia u pacjentów z pleksiformnymi nerwiakowłókniakami w przebiegu NF1²⁰
Selumetinib – lek zatwierdzony dla dzieci w wieku 2-18 lat z nieoperacyjnym nerwiakowłókniakiem pleksiformnym w przebiegu NF1, który może zmniejszyć wzrost guza²¹
Mirdametinib – inny inhibitor MEK wykazujący znaczną skuteczność w zmniejszaniu objętości guza i poprawie jakości życia u pacjentów z NF1-PN²²

Profilaktyczne zastosowanie leków

Trwają badania nad profilaktycznym zastosowaniem inhibitorów MEK jako strategii wtórnej profilaktyki. Rozważane są następujące podejścia²³:

Dołączenie inhibitora MEK po chirurgicznej redukcji guza w celu zmniejszenia prawdopodobieństwa jego ponownego wzrostu i powodowania problemów w przyszłości
Profilaktyczne zastosowanie inhibitorów MEK jako rodzaj wtórnej profilaktyki, chociaż wciąż nie wiadomo, kiedy rozpocząć podawanie leku ani jak długo pacjent powinien go przyjmować

W badaniu klinicznym prowadzonym z selumetinibem badacze starają się ustalić, czy młodzi pacjenci z bezobjawowymi guzami PN w lokalizacjach wysokiego ryzyka mogą potencjalnie odnieść korzyści z wczesnego leczenia tym lekiem²⁴. Celem jest określenie, czy leczenie selumetinibem zapobiega wzrostowi PN u młodych pacjentów z bezobjawowymi guzami w lokalizacjach wysokiego ryzyka²⁵.

Zapobieganie złośliwym nowotworom osłonek nerwów obwodowych

Złośliwe nowotwory osłonek nerwów obwodowych (MPNST) stanowią poważne powikłanie nerwiakowłókniakowatości typu 1. Leczenie MPNST jest niestety mało skuteczne, a nowe strategie zapobiegania ich występowaniu są desperacko potrzebne²⁶. Mimo znanego ryzyka powstania MPNST z klinicznie wykrywalnych pleksiformnych nerwiakowłókniaków, nie ma obecnie terapii, które mogłyby zahamować powstawanie MPNST u pacjentów z NF1²⁷.

Trwają badania nad zastosowaniem mimetyków BH3 i środków lizosomotropowych w celu ustalenia, czy mogą one bezpiecznie i skutecznie zmniejszyć formowanie i progresję MPNST²⁸. Nowo opracowana terapia zapobiegawcza MPNST mogłaby potencjalnie dramatycznie zmniejszyć ryzyko powstawania MPNST u pacjentów, którzy w przeciwnym razie musieliby po prostu czekać na progresję swoich guzów²⁹.

Rola procesu zapalnego w rozwoju nerwiakowłókniaków

Badania wskazują na istotną rolę procesu zapalnego w powstawaniu nerwiakowłókniaków³⁰. Dane sugerują, że zapobieganie stanom zapalnym, a być może także urazom nerwów w obserwowanych lokalizacjach guzów, stanowią podejścia terapeutyczne do profilaktyki nerwiakowłókniaków³¹.

Odkrycia kliniczne sugerują, że komórki tuczne mogą odgrywać wspierającą rolę w rozwoju nerwiakowłókniaków, a metabolizm komórek tucznych może być celem terapeutycznym³². Przyszłe badania kliniczne wykorzystujące podwójne hamowanie zarówno komórek tucznych, jak i makrofagów mogą być znacznie bardziej skuteczne w leczeniu tego typu guzów³³.

Proponuje się, że zapobieganie powtarzającym się urazom nerwów (zarówno fizjologicznym, jak i traumatycznym) lub blokowanie stanu zapalnego nerwów mogłoby być nową strategią w zarządzaniu wzrostem nerwiakowłókniaków³⁴.

Terapia genowa jako przyszłościowa metoda profilaktyki

Terapia genowa zastępująca gen NF1 ma potencjał zarówno do zapobiegania, jak i leczenia skórnych nerwiakowłókniaków, a także wielu innych objawów NF1 poprzez przywrócenie funkcji NF1 w komórkach tworzących guzy³⁵.

W ramach sześcioletniej inicjatywy badawczej naukowcy dążą do dostarczenia dowodu zasady dla terapii genowej NF1 w leczeniu określonego podtypu guza, demonstrując, że genetyczne lub wektorowe przywrócenie genu NF1 w komórkach nowotworowych uratuje lub zapobiegnie tworzeniu się nerwiakowłókniaków³⁶.

Badania koncepcyjne terapii zastępującej gen NF1 mają na celu ustalenie, czy przywrócenie NF1 w komórkach nowotworowych uratuje tworzenie nerwiakowłókniaków przy użyciu komórek iPS i eksperymentów na zwierzętach³⁷.

Profilaktyczne zarządzanie jakością życia

Generalnie większość osób, u których rozwijają się nerwiakowłókniaki, nie odczuwa znaczących problemów związanych z tą chorobą. Jednak osoby, które mają dużo tych guzów lub mają zauważalne guzy, mogą czuć, że ich wygląd wpływa na jakość ich życia³⁸.

W takiej sytuacji zaleca się rozmowę z lekarzem prowadzącym o możliwości chirurgicznego usunięcia widocznych guzów, które powodują dyskomfort lub zakłopotanie. Nerwiakowłókniaki rzadko wracają po operacji³⁹.

Dla osób, które rozwinęły tę chorobę w okresie dojrzewania, zarządzanie objawami jest jedynym wyjściem. Obejmuje to udział w terapii i poradnictwie. Osoby z genetyczną predyspozycją do tej choroby muszą zwracać uwagę na objawy i przechodzić okresowe badania zgodnie z zaleceniami lekarza⁴⁰.

Podsumowanie strategii profilaktycznych

Chociaż nerwiakowłókniak jako choroba genetyczna nie może być całkowicie zapobieżony, istnieją różne strategie profilaktyczne, które mogą pomóc w zarządzaniu ryzykiem i minimalizowaniu powikłań:

Poradnictwo genetyczne dla osób z historią rodzinną nerwiakowłókniakowatości⁴¹⁴²
Testy genetyczne dla osób planujących rodzinę⁴³
Regularne badania kontrolne i monitorowanie u osób zdiagnozowanych z nerwiakowłókniakiem⁴⁴
Farmakoterapia (inhibitory MEK) jako potencjalna metoda zapobiegania wzrostowi guzów⁴⁵⁴⁶
Zapobieganie i leczenie stanów zapalnych związanych z nerwiakowłókniakami⁴⁷
Rozwój terapii genowej jako przyszłościowej metody profilaktyki⁴⁸
Chirurgiczne usunięcie problematycznych guzów w celu poprawy jakości życia⁴⁹

Pomimo braku ustalonych metod pierwotnej profilaktyki nerwiakowłókniaka⁵⁰, powyższe strategie oferują możliwości zmniejszenia obciążenia chorobą i poprawy jakości życia pacjentów. Ścisła współpraca z zespołem medycznym jest kluczowa dla opracowania indywidualnego planu monitorowania i zarządzania chorobą.

Kolejne rozdziały

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Materiały źródłowe

#1
https://www.jci.org/articles/view/99424
Neurofibromas are heterogeneous tumors comprised of neoplastic Schwann cells and nonneoplastic fibroblasts, vascular endothelial cells, and mast cells, as well as dense collagen. […] Our study details the role of inflammation in neurofibromagenesis. Our data indicate that prevention of inflammation and possibly also nerve injury at the observed tumor locations are therapeutic approaches for neurofibroma prophylaxis and that such treatment should be explored. […] These clinical findings further suggested that mast cells could play a supportive role in neurofibroma development and mast cell metabolism might be a druggable target. […] Therefore, future clinical trials utilizing dual inhibitions for both mast cells and macrophages may be much more effective for this tumor. […] Here we propose that prevention of repetitive nerve injury (both physiological and traumatic) or blocking of nerve inflammation could be a new strategy to manage neurofibroma growth.
#2 Neurofibromatosis: What It Is, Symptoms, Types & Treatment
https://my.clevelandclinic.org/health/diseases/neurofibromatosis
Theres no known way to prevent neurofibromatosis. If you plan on starting a family, talk to a healthcare provider about genetic counseling to learn more about the risks of having a child with a genetic condition.
#3 Neurofibroma: Definition, Types & Treatment
https://my.clevelandclinic.org/health/diseases/22535-neurofibroma
Neurofibromas can be a symptom of an inherited disorder. That means you cant prevent these tumors from developing. […] Generally speaking, most people who develop neurofibromas arent affected by the condition. But people who have lots of these tumors or have noticeable tumors may feel their appearance affects their quality of life. If thats your situation, talk to your healthcare provider about surgery to remove the visible tumors that make you feel uncomfortable or self-conscious. Neurofibromas rarely come back after surgery.
#4 Neurofibromatosis – familydoctor.org
https://familydoctor.org/condition/neurofibromatosis/
You cannot avoid NF. You can have genetic testing to see if you carry the gene. […] With NF, doctors cannot prevent tumor growth. Most treatment options focus on relieving or reducing symptoms.
#5 Neurofibromatosis: Types and Treatment | Doctor
https://patient.info/doctor/neurofibromatosis-pro
The risk of an affected individual with NF1 or NF2 transmitting the disease to their child is 50% but this cannot predict the severity of any inherited disease. When the complications that cause lifelong morbidity or early mortality in NF1 are considered, the risk of having a severely affected child is about 1 in 12. […] Where parents have had the first affected child known in a family, both parents should be examined for cutaneous stigmata or Lisch nodules. They may be found to have a segmental or mosaic form of NF and thus be at risk of having another affected child. Where there are no clinical signs, their affected child’s condition will have arisen due to a de novo mutation, and the risk to the parent of having another child with NF1 is extremely small (less than 1%). […] The NF1 gene mutation can now be found in 85-95% of cases. Prenatal testing is possible using fetal DNA extracted from chorionic villous sampling or from amniocentesis. Many do not want prenatal assessment because it cannot determine disease severity. Pre-implantation genetic diagnosis is also available. Genetic counselling prior to conception should be advised in all individuals with NF.
#6 Neurofibromatosis-1: MedlinePlus Medical EncyclopediaLock
https://medlineplus.gov/ency/article/000847.htm
Genetic counseling is recommended for anyone with a family history of NF1. […] An annual checkup should be performed of the: […] Eyes […] Skin […] Back […] Nervous system […] Blood pressure.
#7 Neurofibromatosis: Types and Treatment | Doctor
https://patient.info/doctor/neurofibromatosis-pro
The risk of an affected individual with NF1 or NF2 transmitting the disease to their child is 50% but this cannot predict the severity of any inherited disease. When the complications that cause lifelong morbidity or early mortality in NF1 are considered, the risk of having a severely affected child is about 1 in 12. […] Where parents have had the first affected child known in a family, both parents should be examined for cutaneous stigmata or Lisch nodules. They may be found to have a segmental or mosaic form of NF and thus be at risk of having another affected child. Where there are no clinical signs, their affected child’s condition will have arisen due to a de novo mutation, and the risk to the parent of having another child with NF1 is extremely small (less than 1%). […] The NF1 gene mutation can now be found in 85-95% of cases. Prenatal testing is possible using fetal DNA extracted from chorionic villous sampling or from amniocentesis. Many do not want prenatal assessment because it cannot determine disease severity. Pre-implantation genetic diagnosis is also available. Genetic counselling prior to conception should be advised in all individuals with NF.
#8 Neurofibromatosis: Types and Treatment | Doctor
https://patient.info/doctor/neurofibromatosis-pro
The risk of an affected individual with NF1 or NF2 transmitting the disease to their child is 50% but this cannot predict the severity of any inherited disease. When the complications that cause lifelong morbidity or early mortality in NF1 are considered, the risk of having a severely affected child is about 1 in 12. […] Where parents have had the first affected child known in a family, both parents should be examined for cutaneous stigmata or Lisch nodules. They may be found to have a segmental or mosaic form of NF and thus be at risk of having another affected child. Where there are no clinical signs, their affected child’s condition will have arisen due to a de novo mutation, and the risk to the parent of having another child with NF1 is extremely small (less than 1%). […] The NF1 gene mutation can now be found in 85-95% of cases. Prenatal testing is possible using fetal DNA extracted from chorionic villous sampling or from amniocentesis. Many do not want prenatal assessment because it cannot determine disease severity. Pre-implantation genetic diagnosis is also available. Genetic counselling prior to conception should be advised in all individuals with NF.
#9 Neurofibromatosis: Types and Treatment | Doctor
https://patient.info/doctor/neurofibromatosis-pro
The risk of an affected individual with NF1 or NF2 transmitting the disease to their child is 50% but this cannot predict the severity of any inherited disease. When the complications that cause lifelong morbidity or early mortality in NF1 are considered, the risk of having a severely affected child is about 1 in 12. […] Where parents have had the first affected child known in a family, both parents should be examined for cutaneous stigmata or Lisch nodules. They may be found to have a segmental or mosaic form of NF and thus be at risk of having another affected child. Where there are no clinical signs, their affected child’s condition will have arisen due to a de novo mutation, and the risk to the parent of having another child with NF1 is extremely small (less than 1%). […] The NF1 gene mutation can now be found in 85-95% of cases. Prenatal testing is possible using fetal DNA extracted from chorionic villous sampling or from amniocentesis. Many do not want prenatal assessment because it cannot determine disease severity. Pre-implantation genetic diagnosis is also available. Genetic counselling prior to conception should be advised in all individuals with NF.
#10 Neurofibromatosis: Types and Treatment | Doctor
https://patient.info/doctor/neurofibromatosis-pro
The risk of an affected individual with NF1 or NF2 transmitting the disease to their child is 50% but this cannot predict the severity of any inherited disease. When the complications that cause lifelong morbidity or early mortality in NF1 are considered, the risk of having a severely affected child is about 1 in 12. […] Where parents have had the first affected child known in a family, both parents should be examined for cutaneous stigmata or Lisch nodules. They may be found to have a segmental or mosaic form of NF and thus be at risk of having another affected child. Where there are no clinical signs, their affected child’s condition will have arisen due to a de novo mutation, and the risk to the parent of having another child with NF1 is extremely small (less than 1%). […] The NF1 gene mutation can now be found in 85-95% of cases. Prenatal testing is possible using fetal DNA extracted from chorionic villous sampling or from amniocentesis. Many do not want prenatal assessment because it cannot determine disease severity. Pre-implantation genetic diagnosis is also available. Genetic counselling prior to conception should be advised in all individuals with NF.
#11 Neurofibromatosis: Types and Treatment | Doctor
https://patient.info/doctor/neurofibromatosis-pro
The risk of an affected individual with NF1 or NF2 transmitting the disease to their child is 50% but this cannot predict the severity of any inherited disease. When the complications that cause lifelong morbidity or early mortality in NF1 are considered, the risk of having a severely affected child is about 1 in 12. […] Where parents have had the first affected child known in a family, both parents should be examined for cutaneous stigmata or Lisch nodules. They may be found to have a segmental or mosaic form of NF and thus be at risk of having another affected child. Where there are no clinical signs, their affected child’s condition will have arisen due to a de novo mutation, and the risk to the parent of having another child with NF1 is extremely small (less than 1%). […] The NF1 gene mutation can now be found in 85-95% of cases. Prenatal testing is possible using fetal DNA extracted from chorionic villous sampling or from amniocentesis. Many do not want prenatal assessment because it cannot determine disease severity. Pre-implantation genetic diagnosis is also available. Genetic counselling prior to conception should be advised in all individuals with NF.
#12 Neurofibromatosis: Types and Treatment | Doctor
https://patient.info/doctor/neurofibromatosis-pro
The risk of an affected individual with NF1 or NF2 transmitting the disease to their child is 50% but this cannot predict the severity of any inherited disease. When the complications that cause lifelong morbidity or early mortality in NF1 are considered, the risk of having a severely affected child is about 1 in 12. […] Where parents have had the first affected child known in a family, both parents should be examined for cutaneous stigmata or Lisch nodules. They may be found to have a segmental or mosaic form of NF and thus be at risk of having another affected child. Where there are no clinical signs, their affected child’s condition will have arisen due to a de novo mutation, and the risk to the parent of having another child with NF1 is extremely small (less than 1%). […] The NF1 gene mutation can now be found in 85-95% of cases. Prenatal testing is possible using fetal DNA extracted from chorionic villous sampling or from amniocentesis. Many do not want prenatal assessment because it cannot determine disease severity. Pre-implantation genetic diagnosis is also available. Genetic counselling prior to conception should be advised in all individuals with NF.
#13 Neurofibroma Treatment in Delhi, India | Symptoms & Causes
https://www.blkmaxhospital.com/our-specialities/centre-for-neurosciences/conditions-treatments/neurofibroma
Neurofibroma is a disease that cannot be prevented. It can, however, be diagnosed through genetic testing to see if you have the gene. Talk to your doctor about genetic testing if you or your partner have neurofibromatosis, or if any of your family members have the disease. It’s also a good idea to undergo gene counselling before conceiving if you’re planning a pregnancy. […] Neurofibroma is a common genetic neurological disorder which cannot be prevented. But it can be treated and cured. If your neurofibroma is benign or non-cancerous, your doctor may recommend that you undergo regular check-ups to monitor or keep an eye on your symptoms. […] It is advised to have genetic counselling before planning a pregnancy if any of the parents have a family history of having Neurofibroma. […] Genetic testing is advised if you have any plans to conceive. This will help to predict the risk of disease. […] Carefully follow the surgeon’s preventive advice and medication guidelines.
#14 Neurofibromatosis: Types and Treatment | Doctor
https://patient.info/doctor/neurofibromatosis-pro
The risk of an affected individual with NF1 or NF2 transmitting the disease to their child is 50% but this cannot predict the severity of any inherited disease. When the complications that cause lifelong morbidity or early mortality in NF1 are considered, the risk of having a severely affected child is about 1 in 12. […] Where parents have had the first affected child known in a family, both parents should be examined for cutaneous stigmata or Lisch nodules. They may be found to have a segmental or mosaic form of NF and thus be at risk of having another affected child. Where there are no clinical signs, their affected child’s condition will have arisen due to a de novo mutation, and the risk to the parent of having another child with NF1 is extremely small (less than 1%). […] The NF1 gene mutation can now be found in 85-95% of cases. Prenatal testing is possible using fetal DNA extracted from chorionic villous sampling or from amniocentesis. Many do not want prenatal assessment because it cannot determine disease severity. Pre-implantation genetic diagnosis is also available. Genetic counselling prior to conception should be advised in all individuals with NF.
#15 Neurofibromatosis: Types and Treatment | Doctor
https://patient.info/doctor/neurofibromatosis-pro
The risk of an affected individual with NF1 or NF2 transmitting the disease to their child is 50% but this cannot predict the severity of any inherited disease. When the complications that cause lifelong morbidity or early mortality in NF1 are considered, the risk of having a severely affected child is about 1 in 12. […] Where parents have had the first affected child known in a family, both parents should be examined for cutaneous stigmata or Lisch nodules. They may be found to have a segmental or mosaic form of NF and thus be at risk of having another affected child. Where there are no clinical signs, their affected child’s condition will have arisen due to a de novo mutation, and the risk to the parent of having another child with NF1 is extremely small (less than 1%). […] The NF1 gene mutation can now be found in 85-95% of cases. Prenatal testing is possible using fetal DNA extracted from chorionic villous sampling or from amniocentesis. Many do not want prenatal assessment because it cannot determine disease severity. Pre-implantation genetic diagnosis is also available. Genetic counselling prior to conception should be advised in all individuals with NF.
#16 Neurofibroma Treatment in Delhi, India | Symptoms & Causes
https://www.blkmaxhospital.com/our-specialities/centre-for-neurosciences/conditions-treatments/neurofibroma
Neurofibroma is a disease that cannot be prevented. It can, however, be diagnosed through genetic testing to see if you have the gene. Talk to your doctor about genetic testing if you or your partner have neurofibromatosis, or if any of your family members have the disease. It’s also a good idea to undergo gene counselling before conceiving if you’re planning a pregnancy. […] Neurofibroma is a common genetic neurological disorder which cannot be prevented. But it can be treated and cured. If your neurofibroma is benign or non-cancerous, your doctor may recommend that you undergo regular check-ups to monitor or keep an eye on your symptoms. […] It is advised to have genetic counselling before planning a pregnancy if any of the parents have a family history of having Neurofibroma. […] Genetic testing is advised if you have any plans to conceive. This will help to predict the risk of disease. […] Carefully follow the surgeon’s preventive advice and medication guidelines.
#17 Neurofibromatosis-1: MedlinePlus Medical EncyclopediaLock
https://medlineplus.gov/ency/article/000847.htm
Genetic counseling is recommended for anyone with a family history of NF1. […] An annual checkup should be performed of the: […] Eyes […] Skin […] Back […] Nervous system […] Blood pressure.
#18 Neurofibroma Treatment in Delhi, India | Symptoms & Causes
https://www.blkmaxhospital.com/our-specialities/centre-for-neurosciences/conditions-treatments/neurofibroma
Neurofibroma is a disease that cannot be prevented. It can, however, be diagnosed through genetic testing to see if you have the gene. Talk to your doctor about genetic testing if you or your partner have neurofibromatosis, or if any of your family members have the disease. It’s also a good idea to undergo gene counselling before conceiving if you’re planning a pregnancy. […] Neurofibroma is a common genetic neurological disorder which cannot be prevented. But it can be treated and cured. If your neurofibroma is benign or non-cancerous, your doctor may recommend that you undergo regular check-ups to monitor or keep an eye on your symptoms. […] It is advised to have genetic counselling before planning a pregnancy if any of the parents have a family history of having Neurofibroma. […] Genetic testing is advised if you have any plans to conceive. This will help to predict the risk of disease. […] Carefully follow the surgeon’s preventive advice and medication guidelines.
#19 Neurofibromatosis – Causes, Symptoms, Treatment, Diagnosis – MedBroadcast.com
https://medbroadcast.com/condition/getcondition/neurofibromatosis
No cure exists for NF. […] Instead, treatment primarily focuses on managing symptoms. […] For children aged 2 to 18 years old with a specific type of NF1 called inoperable plexiform neurofibroma, a medication called selumetinib may be able to decrease the tumour growth. […] Medications can help with nerve pain and high blood pressure. […] In cases of NF1, surgery can help correct bone deformities.
#20 Mirdametinib May Provide Long-Awaited Treatment Alternative for Adults/Children With NF1-PNs
https://www.onclive.com/view/mirdametinib-may-provide-long-awaited-treatment-alternative-for-adults-children-with-nf1-pns
Mirdametinib shows significant efficacy in reducing tumor volume and improving quality of life in NF1-PN patients. […] MEK inhibitors like mirdametinib could play roles in post-surgical adjuvant therapy and secondary prophylaxis for NF1-PN. […] In an interview with OncLive, Hirbe highlighted the significant morbidity and QOL detriment associated with NF1-PN; the efficacy of mirdametinib in reducing tumor size and pain in both pediatric and adult patients as seen in the ReNeu trial; and the potential future roles of MEK inhibitors for post-surgical adjuvant therapy and secondary prophylaxis in this disease setting. […] Something that we are starting to look at is whether adding a MEK inhibitor after debulking could reduce the likelihood of that tumor growing back and causing problems in the future. […] The other thing thats being looked at is prophylactic use [of MEK inhibitors] as a kind of secondary prevention [strategy]. [However], we dont know when to start the medication or how long a patient might need to be on the medication.
#21 Neurofibromatosis – Causes, Symptoms, Treatment, Diagnosis – MedBroadcast.com
https://medbroadcast.com/condition/getcondition/neurofibromatosis
No cure exists for NF. […] Instead, treatment primarily focuses on managing symptoms. […] For children aged 2 to 18 years old with a specific type of NF1 called inoperable plexiform neurofibroma, a medication called selumetinib may be able to decrease the tumour growth. […] Medications can help with nerve pain and high blood pressure. […] In cases of NF1, surgery can help correct bone deformities.
#22 Mirdametinib May Provide Long-Awaited Treatment Alternative for Adults/Children With NF1-PNs
https://www.onclive.com/view/mirdametinib-may-provide-long-awaited-treatment-alternative-for-adults-children-with-nf1-pns
Mirdametinib shows significant efficacy in reducing tumor volume and improving quality of life in NF1-PN patients. […] MEK inhibitors like mirdametinib could play roles in post-surgical adjuvant therapy and secondary prophylaxis for NF1-PN. […] In an interview with OncLive, Hirbe highlighted the significant morbidity and QOL detriment associated with NF1-PN; the efficacy of mirdametinib in reducing tumor size and pain in both pediatric and adult patients as seen in the ReNeu trial; and the potential future roles of MEK inhibitors for post-surgical adjuvant therapy and secondary prophylaxis in this disease setting. […] Something that we are starting to look at is whether adding a MEK inhibitor after debulking could reduce the likelihood of that tumor growing back and causing problems in the future. […] The other thing thats being looked at is prophylactic use [of MEK inhibitors] as a kind of secondary prevention [strategy]. [However], we dont know when to start the medication or how long a patient might need to be on the medication.
#23 Mirdametinib May Provide Long-Awaited Treatment Alternative for Adults/Children With NF1-PNs
https://www.onclive.com/view/mirdametinib-may-provide-long-awaited-treatment-alternative-for-adults-children-with-nf1-pns
Mirdametinib shows significant efficacy in reducing tumor volume and improving quality of life in NF1-PN patients. […] MEK inhibitors like mirdametinib could play roles in post-surgical adjuvant therapy and secondary prophylaxis for NF1-PN. […] In an interview with OncLive, Hirbe highlighted the significant morbidity and QOL detriment associated with NF1-PN; the efficacy of mirdametinib in reducing tumor size and pain in both pediatric and adult patients as seen in the ReNeu trial; and the potential future roles of MEK inhibitors for post-surgical adjuvant therapy and secondary prophylaxis in this disease setting. […] Something that we are starting to look at is whether adding a MEK inhibitor after debulking could reduce the likelihood of that tumor growing back and causing problems in the future. […] The other thing thats being looked at is prophylactic use [of MEK inhibitors] as a kind of secondary prevention [strategy]. [However], we dont know when to start the medication or how long a patient might need to be on the medication.
#24 Selumetinib for the Prevention of Plexiform Neurofibroma Growth in NF Type 1
https://ctv.veeva.com/study/selumetinib-for-the-prevention-of-plexiform-neurofibroma-growth-in-nf-type1
Plexiform neurofibromas (PN) are known to cause significant morbidity in children with NF1. […] Therefore, there remains a critical need in this patient population to determine if young participants with PN in high-risk locations may benefit from early medical intervention prior to the development of clinical problems. This study will determine whether participants with asymptomatic PN in high-risk locations can potentially benefit from early treatment with selumetinib. […] To determine if selumetinib treatment prevents PN growth in young participants with asymptomatic tumors in high-risk locations.
#25 Selumetinib for the Prevention of Plexiform Neurofibroma Growth in NF Type 1
https://ctv.veeva.com/study/selumetinib-for-the-prevention-of-plexiform-neurofibroma-growth-in-nf-type1
Plexiform neurofibromas (PN) are known to cause significant morbidity in children with NF1. […] Therefore, there remains a critical need in this patient population to determine if young participants with PN in high-risk locations may benefit from early medical intervention prior to the development of clinical problems. This study will determine whether participants with asymptomatic PN in high-risk locations can potentially benefit from early treatment with selumetinib. […] To determine if selumetinib treatment prevents PN growth in young participants with asymptomatic tumors in high-risk locations.
#26 Prevention and Treatment of Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors
https://columbia.demo.elsevierpure.com/es/projects/prevention-and-treatment-of-neurofibromatosis-type-1-associated-m
Neurofibromatosis type 1 (NF1) is a common disease affecting approximately 1 in 3,000 humans. […] Treatment of MPNSTs is unfortunately not very effective, and new strategies to prevent MPNSTs from occurring are desperately needed. […] Despite this known risk of MPNST formation from clinically detectable plexiform neurofibromas, there are no current therapies that can inhibit MPNST formation in NF1 patients. […] We propose to test BH3 mimetics and lysosomotropic agents in this model to determine if they can safely and effectively reduce MPNST formation and progression. […] Our newly developed MPNST prevention therapy could potentially dramatically decrease the risk of MPNST formation for these patients who would otherwise simply have to wait for their tumors to progress. […] Our proposal represents a potential breakthrough in NF1 patient management and could lead to a significant decrease in MPNST-associated morbidity and mortality, thus improving the lives of NF1 patients and their families.
#27 Prevention and Treatment of Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors
https://columbia.demo.elsevierpure.com/es/projects/prevention-and-treatment-of-neurofibromatosis-type-1-associated-m
Neurofibromatosis type 1 (NF1) is a common disease affecting approximately 1 in 3,000 humans. […] Treatment of MPNSTs is unfortunately not very effective, and new strategies to prevent MPNSTs from occurring are desperately needed. […] Despite this known risk of MPNST formation from clinically detectable plexiform neurofibromas, there are no current therapies that can inhibit MPNST formation in NF1 patients. […] We propose to test BH3 mimetics and lysosomotropic agents in this model to determine if they can safely and effectively reduce MPNST formation and progression. […] Our newly developed MPNST prevention therapy could potentially dramatically decrease the risk of MPNST formation for these patients who would otherwise simply have to wait for their tumors to progress. […] Our proposal represents a potential breakthrough in NF1 patient management and could lead to a significant decrease in MPNST-associated morbidity and mortality, thus improving the lives of NF1 patients and their families.
#28 Prevention and Treatment of Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors
https://columbia.demo.elsevierpure.com/es/projects/prevention-and-treatment-of-neurofibromatosis-type-1-associated-m
Neurofibromatosis type 1 (NF1) is a common disease affecting approximately 1 in 3,000 humans. […] Treatment of MPNSTs is unfortunately not very effective, and new strategies to prevent MPNSTs from occurring are desperately needed. […] Despite this known risk of MPNST formation from clinically detectable plexiform neurofibromas, there are no current therapies that can inhibit MPNST formation in NF1 patients. […] We propose to test BH3 mimetics and lysosomotropic agents in this model to determine if they can safely and effectively reduce MPNST formation and progression. […] Our newly developed MPNST prevention therapy could potentially dramatically decrease the risk of MPNST formation for these patients who would otherwise simply have to wait for their tumors to progress. […] Our proposal represents a potential breakthrough in NF1 patient management and could lead to a significant decrease in MPNST-associated morbidity and mortality, thus improving the lives of NF1 patients and their families.
#29 Prevention and Treatment of Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors
https://columbia.demo.elsevierpure.com/es/projects/prevention-and-treatment-of-neurofibromatosis-type-1-associated-m
Neurofibromatosis type 1 (NF1) is a common disease affecting approximately 1 in 3,000 humans. […] Treatment of MPNSTs is unfortunately not very effective, and new strategies to prevent MPNSTs from occurring are desperately needed. […] Despite this known risk of MPNST formation from clinically detectable plexiform neurofibromas, there are no current therapies that can inhibit MPNST formation in NF1 patients. […] We propose to test BH3 mimetics and lysosomotropic agents in this model to determine if they can safely and effectively reduce MPNST formation and progression. […] Our newly developed MPNST prevention therapy could potentially dramatically decrease the risk of MPNST formation for these patients who would otherwise simply have to wait for their tumors to progress. […] Our proposal represents a potential breakthrough in NF1 patient management and could lead to a significant decrease in MPNST-associated morbidity and mortality, thus improving the lives of NF1 patients and their families.
#30
https://www.jci.org/articles/view/99424
Neurofibromas are heterogeneous tumors comprised of neoplastic Schwann cells and nonneoplastic fibroblasts, vascular endothelial cells, and mast cells, as well as dense collagen. […] Our study details the role of inflammation in neurofibromagenesis. Our data indicate that prevention of inflammation and possibly also nerve injury at the observed tumor locations are therapeutic approaches for neurofibroma prophylaxis and that such treatment should be explored. […] These clinical findings further suggested that mast cells could play a supportive role in neurofibroma development and mast cell metabolism might be a druggable target. […] Therefore, future clinical trials utilizing dual inhibitions for both mast cells and macrophages may be much more effective for this tumor. […] Here we propose that prevention of repetitive nerve injury (both physiological and traumatic) or blocking of nerve inflammation could be a new strategy to manage neurofibroma growth.
#31
https://www.jci.org/articles/view/99424
Neurofibromas are heterogeneous tumors comprised of neoplastic Schwann cells and nonneoplastic fibroblasts, vascular endothelial cells, and mast cells, as well as dense collagen. […] Our study details the role of inflammation in neurofibromagenesis. Our data indicate that prevention of inflammation and possibly also nerve injury at the observed tumor locations are therapeutic approaches for neurofibroma prophylaxis and that such treatment should be explored. […] These clinical findings further suggested that mast cells could play a supportive role in neurofibroma development and mast cell metabolism might be a druggable target. […] Therefore, future clinical trials utilizing dual inhibitions for both mast cells and macrophages may be much more effective for this tumor. […] Here we propose that prevention of repetitive nerve injury (both physiological and traumatic) or blocking of nerve inflammation could be a new strategy to manage neurofibroma growth.
#32
https://www.jci.org/articles/view/99424
Neurofibromas are heterogeneous tumors comprised of neoplastic Schwann cells and nonneoplastic fibroblasts, vascular endothelial cells, and mast cells, as well as dense collagen. […] Our study details the role of inflammation in neurofibromagenesis. Our data indicate that prevention of inflammation and possibly also nerve injury at the observed tumor locations are therapeutic approaches for neurofibroma prophylaxis and that such treatment should be explored. […] These clinical findings further suggested that mast cells could play a supportive role in neurofibroma development and mast cell metabolism might be a druggable target. […] Therefore, future clinical trials utilizing dual inhibitions for both mast cells and macrophages may be much more effective for this tumor. […] Here we propose that prevention of repetitive nerve injury (both physiological and traumatic) or blocking of nerve inflammation could be a new strategy to manage neurofibroma growth.
#33
https://www.jci.org/articles/view/99424
Neurofibromas are heterogeneous tumors comprised of neoplastic Schwann cells and nonneoplastic fibroblasts, vascular endothelial cells, and mast cells, as well as dense collagen. […] Our study details the role of inflammation in neurofibromagenesis. Our data indicate that prevention of inflammation and possibly also nerve injury at the observed tumor locations are therapeutic approaches for neurofibroma prophylaxis and that such treatment should be explored. […] These clinical findings further suggested that mast cells could play a supportive role in neurofibroma development and mast cell metabolism might be a druggable target. […] Therefore, future clinical trials utilizing dual inhibitions for both mast cells and macrophages may be much more effective for this tumor. […] Here we propose that prevention of repetitive nerve injury (both physiological and traumatic) or blocking of nerve inflammation could be a new strategy to manage neurofibroma growth.
#34
https://www.jci.org/articles/view/99424
Neurofibromas are heterogeneous tumors comprised of neoplastic Schwann cells and nonneoplastic fibroblasts, vascular endothelial cells, and mast cells, as well as dense collagen. […] Our study details the role of inflammation in neurofibromagenesis. Our data indicate that prevention of inflammation and possibly also nerve injury at the observed tumor locations are therapeutic approaches for neurofibroma prophylaxis and that such treatment should be explored. […] These clinical findings further suggested that mast cells could play a supportive role in neurofibroma development and mast cell metabolism might be a druggable target. […] Therefore, future clinical trials utilizing dual inhibitions for both mast cells and macrophages may be much more effective for this tumor. […] Here we propose that prevention of repetitive nerve injury (both physiological and traumatic) or blocking of nerve inflammation could be a new strategy to manage neurofibroma growth.
#35 NTAP and CTF | NFTC Initiatives for Neurofibromatosis Research | NTAP
https://www.n-tap.org/who-we-are/nf1-gene-replacement-initiative
Gene replacement has the potential to both prevent and treat cutaneous neurofibromas as well as many other NF1 manifestations by restoring NF1 function in tumor-forming cells. […] In this six-year initiative, we will deliver proof-of-principle for NF1 gene therapy to treat a specific tumor subtype by demonstrating that genetic or vector-based NF1 gene restoration in tumorigenic cells will rescue or prevent neurofibroma formation. […] NF1 gene replacement therapy proof of concept experiments to determine if NF1 restoration in tumorigenic cells will rescue neurofibroma formation using iPSCs and animal experiments.
#36 NTAP and CTF | NFTC Initiatives for Neurofibromatosis Research | NTAP
https://www.n-tap.org/who-we-are/nf1-gene-replacement-initiative
Gene replacement has the potential to both prevent and treat cutaneous neurofibromas as well as many other NF1 manifestations by restoring NF1 function in tumor-forming cells. […] In this six-year initiative, we will deliver proof-of-principle for NF1 gene therapy to treat a specific tumor subtype by demonstrating that genetic or vector-based NF1 gene restoration in tumorigenic cells will rescue or prevent neurofibroma formation. […] NF1 gene replacement therapy proof of concept experiments to determine if NF1 restoration in tumorigenic cells will rescue neurofibroma formation using iPSCs and animal experiments.
#37 NTAP and CTF | NFTC Initiatives for Neurofibromatosis Research | NTAP
https://www.n-tap.org/who-we-are/nf1-gene-replacement-initiative
Gene replacement has the potential to both prevent and treat cutaneous neurofibromas as well as many other NF1 manifestations by restoring NF1 function in tumor-forming cells. […] In this six-year initiative, we will deliver proof-of-principle for NF1 gene therapy to treat a specific tumor subtype by demonstrating that genetic or vector-based NF1 gene restoration in tumorigenic cells will rescue or prevent neurofibroma formation. […] NF1 gene replacement therapy proof of concept experiments to determine if NF1 restoration in tumorigenic cells will rescue neurofibroma formation using iPSCs and animal experiments.
#38 Neurofibroma: Definition, Types & Treatment
https://my.clevelandclinic.org/health/diseases/22535-neurofibroma
Neurofibromas can be a symptom of an inherited disorder. That means you cant prevent these tumors from developing. […] Generally speaking, most people who develop neurofibromas arent affected by the condition. But people who have lots of these tumors or have noticeable tumors may feel their appearance affects their quality of life. If thats your situation, talk to your healthcare provider about surgery to remove the visible tumors that make you feel uncomfortable or self-conscious. Neurofibromas rarely come back after surgery.
#39 Neurofibroma: Definition, Types & Treatment
https://my.clevelandclinic.org/health/diseases/22535-neurofibroma
Neurofibromas can be a symptom of an inherited disorder. That means you cant prevent these tumors from developing. […] Generally speaking, most people who develop neurofibromas arent affected by the condition. But people who have lots of these tumors or have noticeable tumors may feel their appearance affects their quality of life. If thats your situation, talk to your healthcare provider about surgery to remove the visible tumors that make you feel uncomfortable or self-conscious. Neurofibromas rarely come back after surgery.
#40 Neurofibromatosis – Types, Causes, Prevention & Treatment Only At blog.cult.fit
https://blog.cult.fit/articles/neurofibromatosis-causes-prevention-treatment
Both types of Neurofibromatosis NF1 and NF2 happen due to gene mutations and genetic inheritance. As of now, there is no way to Prevent this condition from happening. […] The only way to know if the fetus has this defective gene is to conduct tests during pregnancy. For those who developed this condition during their adolescence managing the Symptoms is the only way out. It includes going to therapy and counseling. Others with a genetic predisposition of this condition have to be watchful of the Symptoms and undergo periodic tests as suggested by your doctor.
#41 Neurofibromatosis Symptoms and Treatment | Baptist Health
https://www.baptisthealth.com/care-services/conditions-treatments/neurofibromatosis
Neurofibromatosis cannot be prevented. People with a family history of the disorder can undergo genetic testing and counseling to determine if they are at risk for transmitting it to their children.
#42 Neurofibromatosis: Symptoms, Causes and Treatment | MedPark Hospital
https://www.medparkhospital.com/en-US/disease-and-treatment/neurofibromatosis
How can neurofibromatosis be prevented? […] Although there is no known prevention for neurofibromatosis, genetic counseling can help individuals understand the likelihood of being pregnant with a child affected by the genetic condition.
#43 Neurofibromatosis – familydoctor.org
https://familydoctor.org/condition/neurofibromatosis/
You cannot avoid NF. You can have genetic testing to see if you carry the gene. […] With NF, doctors cannot prevent tumor growth. Most treatment options focus on relieving or reducing symptoms.
#44 Neurofibromatosis-1: MedlinePlus Medical EncyclopediaLock
https://medlineplus.gov/ency/article/000847.htm
Genetic counseling is recommended for anyone with a family history of NF1. […] An annual checkup should be performed of the: […] Eyes […] Skin […] Back […] Nervous system […] Blood pressure.
#45 Selumetinib for the Prevention of Plexiform Neurofibroma Growth in NF Type 1
https://ctv.veeva.com/study/selumetinib-for-the-prevention-of-plexiform-neurofibroma-growth-in-nf-type1
Plexiform neurofibromas (PN) are known to cause significant morbidity in children with NF1. […] Therefore, there remains a critical need in this patient population to determine if young participants with PN in high-risk locations may benefit from early medical intervention prior to the development of clinical problems. This study will determine whether participants with asymptomatic PN in high-risk locations can potentially benefit from early treatment with selumetinib. […] To determine if selumetinib treatment prevents PN growth in young participants with asymptomatic tumors in high-risk locations.
#46 Mirdametinib May Provide Long-Awaited Treatment Alternative for Adults/Children With NF1-PNs
https://www.onclive.com/view/mirdametinib-may-provide-long-awaited-treatment-alternative-for-adults-children-with-nf1-pns
Mirdametinib shows significant efficacy in reducing tumor volume and improving quality of life in NF1-PN patients. […] MEK inhibitors like mirdametinib could play roles in post-surgical adjuvant therapy and secondary prophylaxis for NF1-PN. […] In an interview with OncLive, Hirbe highlighted the significant morbidity and QOL detriment associated with NF1-PN; the efficacy of mirdametinib in reducing tumor size and pain in both pediatric and adult patients as seen in the ReNeu trial; and the potential future roles of MEK inhibitors for post-surgical adjuvant therapy and secondary prophylaxis in this disease setting. […] Something that we are starting to look at is whether adding a MEK inhibitor after debulking could reduce the likelihood of that tumor growing back and causing problems in the future. […] The other thing thats being looked at is prophylactic use [of MEK inhibitors] as a kind of secondary prevention [strategy]. [However], we dont know when to start the medication or how long a patient might need to be on the medication.
#47
https://www.jci.org/articles/view/99424
Neurofibromas are heterogeneous tumors comprised of neoplastic Schwann cells and nonneoplastic fibroblasts, vascular endothelial cells, and mast cells, as well as dense collagen. […] Our study details the role of inflammation in neurofibromagenesis. Our data indicate that prevention of inflammation and possibly also nerve injury at the observed tumor locations are therapeutic approaches for neurofibroma prophylaxis and that such treatment should be explored. […] These clinical findings further suggested that mast cells could play a supportive role in neurofibroma development and mast cell metabolism might be a druggable target. […] Therefore, future clinical trials utilizing dual inhibitions for both mast cells and macrophages may be much more effective for this tumor. […] Here we propose that prevention of repetitive nerve injury (both physiological and traumatic) or blocking of nerve inflammation could be a new strategy to manage neurofibroma growth.
#48 NTAP and CTF | NFTC Initiatives for Neurofibromatosis Research | NTAP
https://www.n-tap.org/who-we-are/nf1-gene-replacement-initiative
Gene replacement has the potential to both prevent and treat cutaneous neurofibromas as well as many other NF1 manifestations by restoring NF1 function in tumor-forming cells. […] In this six-year initiative, we will deliver proof-of-principle for NF1 gene therapy to treat a specific tumor subtype by demonstrating that genetic or vector-based NF1 gene restoration in tumorigenic cells will rescue or prevent neurofibroma formation. […] NF1 gene replacement therapy proof of concept experiments to determine if NF1 restoration in tumorigenic cells will rescue neurofibroma formation using iPSCs and animal experiments.
#49 Neurofibroma: Definition, Types & Treatment
https://my.clevelandclinic.org/health/diseases/22535-neurofibroma
Neurofibromas can be a symptom of an inherited disorder. That means you cant prevent these tumors from developing. […] Generally speaking, most people who develop neurofibromas arent affected by the condition. But people who have lots of these tumors or have noticeable tumors may feel their appearance affects their quality of life. If thats your situation, talk to your healthcare provider about surgery to remove the visible tumors that make you feel uncomfortable or self-conscious. Neurofibromas rarely come back after surgery.
#50 Neurofibroma primary prevention – wikidoc
https://www.wikidoc.org/index.php/Neurofibroma_primary_prevention
There is no established method for primary prevention of neurofibroma. […] There is no established method for primary prevention of neurofibroma.