Nowotwory nerwów obwodowych

Nowotwory nerwów obwodowych
Epidemiologia

Nowotwory nerwów obwodowych (PNSTs) obejmują heterogenną grupę schorzeń, wśród których najczęściej występują nerwiaki (schwannoma) i nerwiakowłókniaki (neurofibroma). Nerwiaki, łagodne guzy komórek Schwanna, pojawiają się głównie u osób w wieku 40-60 lat, często jako pojedyncze zmiany, związaną z ekspozycją na promieniowanie. Nerwiakowłókniaki stanowią 5,3% łagodnych nowotworów tkanek miękkich, z dominującą lokalizacją w skórze i równym rozkładem płci, 90% przypadków jest sporadycznych, a 10% związanych z nerwiakowłókniakowatością typu 1 (NF1). Złośliwe nowotwory osłonek nerwów obwodowych (MPNSTs) to agresywne mięsakowe guzy, stanowiące 5-10% mięsaków tkanek miękkich, z roczną zapadalnością 1,46 na 1 000 000 osób, szczególnie częste u pacjentów z NF1 (ryzyko życiowe 8-13%) oraz po radioterapii (10% przypadków). Epidemiologicznie MPNSTs dominują u osób w wieku 20-50 lat, bez preferencji płciowej, a 10-20% diagnoz dotyczy dzieci. Pięcioletni wskaźnik przeżycia w MPNSTs wynosi 30-60%, z gorszym rokowaniem u pacjentów z NF1, dużymi guzami i lokalizacją na tułowiu.

Epidemiologia nowotworów nerwów obwodowych

Nowotwory nerwów obwodowych (ang. peripheral nerve sheath tumors, PNSTs) są heterogenną grupą schorzeń, które po raz pierwszy opisano ponad 200 lat temu. Od tamtego czasu, nasza wiedza na temat ich charakterystyki epidemiologicznej, diagnostycznej i terapeutycznej znacząco ewoluowała.¹ Nowotwory te stanowią rzadkie schorzenia w populacji ogólnej, jednak niektóre ich typy, w tym nerwiaki (schwannoma) i nerwiakowłókniaki (neurofibroma), mogą występować sporadycznie lub w związku z nerwiakowłókniakowatością (NF).²

Występowanie nowotworów łagodnych

Nerwiaki (schwannoma) są łagodnymi nowotworami osłonek nerwów zbudowanymi z zróżnicowanych nowotworowych komórek Schwanna. Aż 90% nerwiaków występuje jako zmiany pojedyncze i sporadyczne, dotykając osoby w każdym wieku, z najczęstszym występowaniem w przedziale od czwartej do szóstej dekady życia. Obserwowano zwiększoną częstość występowania nerwiaków po wcześniejszej radioterapii. Typowa prezentacja to bezobjawowa zmiana skóry lub tkanki podskórnej głowy i szyi, albo wzdłuż powierzchni zginaczy kończyn górnych i dolnych.³

Nerwiakowłókniak (neurofibroma) jest częstym łagodnym nowotworem osłonek nerwów obwodowych, stanowiącym 5,3% wszystkich łagodnych nowotworów tkanek miękkich. Pojawia się jako miękka, barwy skóry brodawka lub mały guzek podskórny. Najczęstszą lokalizacją jest skóra, z przeważającym zajęciem skóry właściwej; rzadziej guz zajmuje nerwy średniej wielkości, splot nerwowy, główny pień nerwowy lub korzenie nerwów rdzeniowych. Wszystkie grupy demograficzne są dotknięte, a rozkład między płciami jest równy (M = K). 90% przypadków występuje sporadycznie, podczas gdy pozostałe przypadki są związane z nerwiakowłókniakowatością typu 1.⁴⁵

Występowanie nowotworów złośliwych

Złośliwe nowotwory osłonek nerwów obwodowych (ang. malignant peripheral nerve sheath tumors, MPNSTs) są agresywnymi mięsakami tkanek miękkich o różnicowaniu osłonek nerwów i tendencji do tworzenia przerzutów. Pomimo że występują z częstością 0,001% w populacji ogólnej, są stosunkowo powszechne u osób z nerwiakowłókniakowatością typu 1 (NF1), dla których ryzyko rozwoju tego nowotworu w ciągu życia wynosi blisko 10%.⁶

MPNSTs stanowią 5-10% wszystkich mięsaków tkanek miękkich i są jednym z najczęstszych mięsaków tkanek miękkich innych niż mięsak prążkowanokomórkowy (NRSTS) u pacjentów pediatrycznych. Szacowana roczna zapadalność na MPNSTs wynosi 1,46 na 1 000 000 osób.⁷⁸

Epidemiologicznie, złośliwe nowotwory osłonek nerwów obwodowych najczęściej występują u młodych i w średnim wieku dorosłych (20-50 lat). Nie stwierdzono preferencji płciowej.⁹ Stanowią one 12% wszystkich mięsaków tkanek miękkich w niektórych ośrodkach medycznych.¹⁰

Czynniki ryzyka nowotworów nerwów obwodowych

Chociaż przyczyna większości nowotworów nerwów obwodowych nie jest znana, zidentyfikowano kilka kluczowych czynników ryzyka.¹¹

Predyspozycje genetyczne

Najważniejszym znanym czynnikiem ryzyka rozwoju MPNSTs jest diagnoza nerwiakowłókniakowatości typu 1 (NF1). Około 50% wszystkich MPNSTs występuje u pacjentów z NF1.¹² Wśród pacjentów z NF1, występowanie rodzinnej historii NF1 i MPNST wiąże się z około trzykrotnie większym ryzykiem rozwoju MPNST u danego pacjenta.¹³

Pacjenci z całkowitymi delecjami genu NF1, nerwiakowłókniakami podskórnymi lub dużą liczbą nerwiakowłókniaków splotowatych są szczególnie narażeni na rozwój MPNST.¹⁴ Ryzyko rozwoju MPNST w ciągu życia u pacjentów z NF1 jest wysokie (8-13%).¹⁵

Inne syndromy genetyczne predysponujące do rozwoju nowotworów osłonek nerwów to:¹⁶¹⁷

Nerwiakowłókniakowatość typu 2 (NF2) – charakteryzująca się występowaniem obustronnych nerwiaków nerwu przedsionkowego
Schwannomatoza – cechująca się wysoką skłonnością do rozwoju licznych nerwiaków
Zespół Carneya i mnogie gruczolakowatości wewnątrzwydzielnicze typu 2B – mogą predysponować do rozwoju nowotworów osłonek nerwów obwodowych

Ekspozycja na promieniowanie

Drugim głównym znanym czynnikiem ryzyka rozwoju MPNST jest ekspozycja na promieniowanie, zazwyczaj w kontekście wtórnego nowotworu złośliwego występującego po radioterapii.¹⁸ Około 10% przypadków MPNST występuje po radioterapii.¹⁹ U osób, które zostały poddane ekspozycji na promieniowanie, istnieje wyższe ryzyko rozwoju nowotworów nerwów obwodowych w późniejszych latach.²⁰

Rozkłady demograficzne i grupy wysokiego ryzyka

Epidemiologiczny wzorzec występowania MPNSTs ewoluował w latach 2000-2019. Pomimo dramatycznego zmniejszenia ogólnej częstości występowania, zapadalność pozostaje stała wśród osób niebędących przedstawicielami rasy białej i tych w młodszym wieku, co może być związane z mutacją NF1.²¹²²

Różnice między dziećmi a dorosłymi

Około 10-20% wszystkich MPNSTs diagnozowanych jest u dzieci. Nie stwierdzono różnic między dziećmi a dorosłymi w lokalizacji guza, wielkości lub stopniu histologicznym, chociaż u dorosłych częściej występuje więcej niż jeden guz pierwotny w momencie diagnozy.²³

W badaniu z udziałem 251 pediatrycznych pacjentów z MPNSTs (132 [53%] kobiet i 119 [47%] mężczyzn) średni wiek w momencie diagnozy wynosił 13,1 lat (zakres 1-18 lat). Pięcioletni wskaźnik przeżycia ogólnego oszacowano na 52% (95% CI 45%-59%), z medianą przeżycia wynoszącą 64 miesiące.²⁴

Różnice porównawcze między sporadycznymi a związanymi z NF1 MPNSTs

W większości serii przypadków, pacjenci z diagnozą NF1 lub po wcześniejszej radioterapii wykazują gorsze przeżycie ogólne w porównaniu do tych ze sporadycznymi MPNSTs. Prawdopodobnie jest to spowodowane większą skłonnością do przerzutów i/lub miejscowej inwazji wykazywaną przez guzy u tych pacjentów.²⁵²⁶

Jednakże różnica w przeżywalności wydaje się zmniejszać, gdyż pacjenci z MPNSTs związanymi z NF1 radzą sobie lepiej w badaniach przeprowadzonych w ostatnich latach – choć nadal nie tak dobrze jak pacjenci ze sporadycznymi MPNSTs.²⁷

NF1 jest związane ze znacznie wyższym ryzykiem śmiertelności z wszystkich przyczyn i śmiertelności związanej z chorobą. To odkrycie sugeruje, że bliższy nadzór jest wymagany dla pacjentów z NF1 zagrożonych rozwojem MPNSTs.²⁸

Monitoring i nadzór nad nowotworami nerwów obwodowych

Wczesna diagnoza i leczenie są najważniejszymi czynnikami dla pomyślnego wyniku leczenia nowotworów nerwów obwodowych. Guzy mogą powracać po leczeniu, co podkreśla znaczenie dokładnego monitorowania.²⁹

Strategie nadzoru obrazowego

Częstotliwość obrazowania nadzorczego za pomocą MRI powinna być oparta na zakresie resekcji (całkowita vs. niecałkowita) i agresywności guza, a czas trwania powinien wynosić do 5 lat w przypadku PNSTs. Zaleca się coroczne badanie MRI przez 5 lat u pacjentów z nieleczonymi, przypadkowo wykrytymi nerwiakami, jak również zachowawczo leczonymi, napromienianymi i niecałkowicie usuniętymi nerwiakami nerwu przedsionkowego. Następnie odstępy między badaniami kontrolnymi mogą być zwiększone.³⁰

W przypadku obserwacji i oczekiwania na wzrost guza, regularnie wykonuje się badania kontrolne, a MRI, CT lub USG co 6 do 12 miesięcy, aby sprawdzić, czy guz rośnie. Jeśli powtórne skany pokażą, że guz jest stabilny, można go monitorować co kilka lat.³¹

Monitorowanie grup wysokiego ryzyka

Pacjenci z NF-MPNST poddawani są zarówno badaniom obrazowym, jak i operacjom częściej niż pacjenci z sMPNSTs, w próbie osiągnięcia przez klinicystów i pacjentów wczesnej diagnozy i resekcji, oraz przezwyciężenia wyzwań w rozróżnianiu MPNSTs od łagodnych nerwiakowłókniaków.³²

Osoby z NF1 są również narażone na zwiększone ryzyko rozwoju złośliwego nowotworu osłonek nerwów obwodowych. Ważne jest, aby często konsultować się z lekarzem w celu monitorowania tego ryzyka.³³

Podkreśla się konieczność agresywnego leczenia w grupach wysokiego ryzyka i znaczenie regularnego monitorowania w celu wczesnego wykrycia drugiego pierwotnego nowotworu (SPC) u osób, które przeżyły.³⁴³⁵

Czynniki prognostyczne i przeżycie

Czynniki takie jak wiek, wielkość guza, stopień histologiczny, stopień kliniczny i interwencje terapeutyczne okazały się wywierać znaczący wpływ na ogólne przeżycie pacjentów z MPNSTs.³⁶

Wskaźniki przeżycia dla MPNSTs

MPNSTs są agresywnymi guzami, które niosą złe rokowanie, z 20-25% pacjentów rozwijających przerzuty. Ogólny 5-letni wskaźnik przeżycia dla guzów sporadycznych wynosi 65%. Złe czynniki prognostyczne obejmują NF1, duży rozmiar, lokalizację na tułowiu oraz cechy histologiczne wysokiego stopnia.³⁷

Rokowanie dla MPNSTs jest generalnie słabe i zależy od rozmiaru guza i powodzenia leczenia. Mniej korzystne rokowanie wiąże się z dużymi guzami, przypadkami związanymi z NF1 i lokalizacją na tułowiu. Wskaźnik nawrotów sięga 40%, a około dwie trzecie przypadków daje przerzuty (do płuc i kości). Pięcioletni wskaźnik przeżycia wynosi od 26% do 60%, a 10-letnie przeżycie około 45%.³⁸

Czynniki wpływające na przeżycie

W analizie jednowymiarowej wykazano, że płeć (p = 0,05), głębokość guza (p = 0,03) i różnicowanie komórkowe (p = 0,002) są negatywnymi czynnikami prognostycznymi dla przeżycia bez choroby, a płeć (p = 0,04), różnicowanie komórkowe (p = 0,0004) i stopień guza (p = 0,05) dla przeżycia całkowitego. Jednak w analizie wielowymiarowej, różnicowanie komórkowe (p = 0,005) i stopień guza (p = 0,01) okazały się niezależnymi czynnikami prognostycznymi zarówno dla przeżycia bez choroby, jak i przeżycia całkowitego.³⁹

Status NF1 został ustalony jako istotny predyktor śmiertelności, dlatego proponuje się uwzględnienie statusu NF1 przy określaniu stopnia zaawansowania MPNSTs i zaleca się ściślejsze monitorowanie tych pacjentów.⁴⁰⁴¹

W badaniu pediatrycznym wykazano, że starszy wiek pacjenta, przerzuty guza w momencie diagnozy i poddanie się tylko biopsji znacząco i niezależnie prognozowały gorsze wyniki.⁴²

Zapobieganie i obserwacja długoterminowa

Z uwagi na rzadkość występowania nowotworów nerwów obwodowych, ważne jest znalezienie lekarza, który ma doświadczenie w ich diagnozowaniu i leczeniu. W razie potrzeby należy zasięgnąć drugiej opinii.⁴³⁴⁴

Strategie zapobiegania

Chociaż nie istnieją specyficzne strategie zapobiegania rozwojowi nowotworów nerwów obwodowych, wczesna identyfikacja i interwencja mogą być kluczowe dla poprawy wyników.⁴⁵

U pacjentów z NF1, którzy mają zwiększone ryzyko rozwoju MPNSTs, szczególnie ważne jest ścisłe monitorowanie i wczesna interwencja. Wczesna diagnoza jest ważna w przypadku guzów nerwów. Złośliwe guzy nerwów obwodowych są rzadkie, ale wymagają agresywnego leczenia w celu uzyskania jak najlepszego możliwego wyniku.⁴⁶

Obserwacja długoterminowa i powikłania

Osoby, które przeżyły MPNST, są narażone na zwiększone ryzyko kolejnego nowotworu i chorób współistniejących.⁴⁷ Powtórna operacja u pacjentów z miejscową progresją guza lub nawrotem PNST powinna być rozważona.⁴⁸

Złośliwe nowotwory osłonek nerwów obwodowych mogą powrócić w tym samym miejscu. Jest to nazywane nawrotem miejscowym. Leczenie może być trudniejsze, jeśli mięsak powróci.⁴⁹

MPNST ma najwyższy wskaźnik nawrotów spośród wszystkich mięsaków, a odpowiednie początkowe leczenie daje najlepszą szansę na przeżycie. Najważniejszą cechą w obserwacji długoterminowej jest charakter nawrotu choroby, z powodu którego pacjenci mogą wymagać paliatywnej chemioterapii.⁵⁰

Ze względu na złożoność, z jaką Ras jest aktywowany w MPNST, badacze sugerują, że ukierunkowanie na ten szlak prawdopodobnie nie będzie skuteczne przy hamowaniu w jednym punkcie osi Ras.⁵¹

Rejestry i nadzór epidemiologiczny

Monitorowanie i rejestracja przypadków nowotworów nerwów obwodowych jest kluczowym elementem zrozumienia ich epidemiologii i poprawy wyników leczenia.

Systemy zgłaszania i rejestry

Łagodne i graniczne nowotwory nerwów obwodowych (C47_), w tym nerwy obwodowe wzdłuż rdzenia kręgowego, nie są zgłaszane do rejestru. Należy jednak zauważyć, że nerwiaki rdzeniowe powstające w korzeniu nerwowym lub oponie twardej rdzenia kręgowego są zgłaszane.⁵²

Nerwiaki i nerwiakowłókniaki nerwów obwodowych nie podlegają zgłoszeniu do wielu systemów rejestracji nowotworów.⁵³

Dane z rejestrów regionalnych

Badania oparte na rejestrach dostarczają cennych informacji na temat epidemiologii MPNSTs. Na przykład w badaniu przeprowadzonym w Arabii Saudyjskiej roczna zapadalność wyniosła 0,076 na milion osób, co ujawniło niską częstość występowania MPNSTs w tym kraju i dostarczyło informacji na temat rozkładu według płci, wieku, rozkładu geograficznego, umiejscowienia guza, stopnia złośliwości i rozległości guza.⁵⁴

Badanie przeprowadzone przez Europejską Sieć ds. Rzadkich Nowotworów (EURACAN) ustanowiło multidyscyplinarną grupę zadaniową w celu opracowania zaleceń ekspertów dotyczących nowotworów osłonek nerwów obwodowych i czaszkowych. Grupa zadaniowa przeanalizowała dostępną literaturę anglojęzyczną do września 2022 r., sklasyfikowała dowody naukowe na klasy I-IV i opracowała zalecenia na poziomach A-C zgodnie z wytycznymi Europejskiej Federacji Towarzystw Neurologicznych.⁵⁵

Typ nowotworu	Częstość występowania	Związek z NF1	Główne czynniki ryzyka	5-letnie przeżycie
Nerwiak (Schwannoma)	Najczęstszy nowotwór neurogeniczny, szczyt zapadalności 40-60 lat	Rzadko; częściej związany z NF2	Ekspozycja na promieniowanie	Bardzo wysokie (złośliwa transformacja wyjątkowo rzadka)
Nerwiakowłókniak (Neurofibroma)	5,3% wszystkich łagodnych nowotworów tkanek miękkich, szczyt 20-40 lat	90% sporadycznie, 10% związanych z NF1	NF1, zwłaszcza dla typu splotowatego	Wysokie (ryzyko złośliwej transformacji wyższe w NF1, zwłaszcza dla typu splotowatego)
Złośliwy nowotwór osłonek nerwów obwodowych (MPNST)	1,46/1 000 000 osób, 5-10% wszystkich mięsaków tkanek miękkich	50% związane z NF1, 40% sporadycznie, 10% po radioterapii	NF1 (ryzyko życiowe 8-13%), ekspozycja na promieniowanie	30-60% (gorsze dla pacjentów z NF1)

Tabela przedstawia porównanie epidemiologiczne głównych typów nowotworów nerwów obwodowych.⁵⁶⁵⁷⁵⁸⁵⁹⁶⁰

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Materiały źródłowe

#1 Epidemiology of Peripheral Nerve Sheath Tumors | SpringerLink
https://link.springer.com/chapter/10.1007/978-3-030-77633-6_1
Peripheral nerve sheath tumors (PNSTs) were first reported over 200 years ago. Since that time, our understanding of their epidemiological characteristics, in addition to their diagnostic and therapeutic implications, has evolved substantially. […] In this chapter, we examine the epidemiological features of different PNSTs in the hope of gaining a better appreciation of their clinical burden and patient impact.
#2 Peripheral nerve tumors – UpToDate
https://www.uptodate.com/contents/peripheral-nerve-tumors
Peripheral nerve tumors are a heterogeneous group of mostly benign tumors that are rare in the general population. Certain types, including neurofibromas and schwannomas, may occur sporadically or in association with neurofibromatosis (NF). […] Symptoms and signs of peripheral nerve tumors are caused by direct nerve invasion, involvement of surrounding tissues, or mass effect. There are no specific clinical presentations unique or even especially suggestive of a particular nerve tumor, with the exception of neurofibromatosis type 1 (NF1), NF2-related schwannomatosis (NF2) and schwannomatosis. […] Patients present for evaluation of peripheral nerve tumors because of a soft tissue mass, pain, or focal neurologic findings, approximately in that order of frequency. The duration and progression of symptoms or signs are important, as most benign tumors have a longer duration and a slow rate of progression, while malignant tumors tend to progress rapidly in size, amount of pain, and neurologic deficit.
#3 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
Schwannomas are benign nerve sheath tumors composed of differentiated neoplastic Schwann cells. Up to 90% of schwannomas are solitary and sporadic, and affect people of all ages, with a peak incidence in the fourth to sixth decades of life. An increased incidence of schwannomas after prior irradiation has been reported. A common presentation consists in an asymptomatic lesion of the skin or subcutaneous tissue of the head and neck, or along the flexor surfaces of the extremities. Spinal intradural extramedullary location is also frequent in schwannomas, that grow through neural foramina, causing radicular pain or sensory or, less frequently, motor symptoms. Multiple paraspinal schwannomas are typical of neurofibromatosis type 2 (NF2). A frequent cranial location is the vestibular compartment of the eight cranial nerves. Vestibular schwannomas represent the third most common intracranial non-malignant tumor entity and comprise over 80% of tumors in the cerebellopontine angle. Most of patients report unilateral hearing loss (94%) and tinnitus (83%), while vestibular symptoms, such as vertigo and unsteadiness, range from 17% to 75% of patients. Schwannomas do not usually recur if treated by gross total resection. Malignant transformation is exceptionally rare, and few case reports have reported a transformation in epithelioid MPNST.
#4 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
Neurofibroma is a frequent benign peripheral nerve sheath tumor (5.3% of all benign soft tissue tumors), and appears as a soft, skin-colored papule or small subcutaneous nodule. The most common site is the skin, with predominant dermal involvement; less frequently, the tumor involves medium-sized nerves, a nerve plexus, a major nerve trunk, or spinal nerve roots. Bilateral and/or multiple spinal root neurofibromas are typical of NF1, while cranial nerve neurofibromas are anecdotal. Cutaneous neurofibromas are usually asymptomatic, rarely painful, and the most common chief complaint is the cosmetic appearance. Motor or sensory symptoms may occur when neurofibromas are in a deep location according with the distribution of the affected nerve. Neurofibroma can be classified into three types, such as localized or solitary, diffuse, and plexiform neurofibroma. The presence of multiple neurofibromas or plexiform neurofibromas is strongly suggestive of NF1, especially when associated with typical findings. Plexiform neurofibromas carry an increased risk of malignant transformation, particularly in NF1 patients.
#5 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. It is composed of Schwann cells, perineurial cells, fibroblasts, mast cells and interspersed myelinated and unmyelinated axons within a myxoid and collagenous extracellular matrix. […] Epidemiology: All demographic groups are affected. M = F. 90% of cases occur sporadically, while the remaining cases are associated with neurofibromatosis type 1. In both sporadic and syndromic cases, neurofibromas are a result of biallelic genetic inactivation of the tumor suppressor gene NF1 with complete loss of function of the NF1 gene product, neurofibromin. In sporadic cases, only the lesional cells carry the NF1 mutation. In syndromic cases, neurofibromas are the result of a germline mutation in NF1, encoding the tumor suppressor protein neurofibromin, on chromosome 17q11.2. 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.
#6 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://pmc.ncbi.nlm.nih.gov/articles/PMC8774267/
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. Although occurring at an incidence of 0.001% in the general population, they are relatively common in individuals with neurofibromatosis type 1 (NF1), for whom the lifetime risk approaches 10%. […] Up to 50% of all MPNSTs occur in patients with NF1. […] MPNST comprise 5-10% of soft tissue sarcomas and are one of the most common nonrhabdomyosarcomatous soft tissue sarcomas (NRSTS) in pediatric patients. […] A diagnosis of NF1 is the primary known risk factor. […] Moreover, among those patients with NF1, a family history of NF1 and MPNST appears to be associated with an approximately three-fold greater risk of developing an MPNST in that patient.
#7 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
MPNST are rare aggressive tumors with an estimated incidence of 1.46 per 1,000,000 individuals accounting for 2â10% of all soft tissue sarcomas. Perineural MPNST are the most frequent form, while epithelioid MPNST are particularly rare. Typically, MPNST arise from a pre-existing benign nerve sheath tumor, or deep-seated plexiform neurofibroma, or large intraneural neurofibroma, or atypical neurofibromatous neoplasm in 8â13% of patients with NF1, representing almost 50% of all MPNST cases. Another 40% of MPNST occur sporadically, and 5% following radiotherapy. Patients with MPNST commonly are 20- to 50-year-olds and display large masses, primarily located along extremities, trunk, head, and neck area, that may cause pain or other neuropathic symptoms. MPNST have a significant risk to recur (40â65%) and metastasize (40â80%), resulting in a poor prognosis, with 5-year overall survival following treatments of 30â60%.
#8 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://pmc.ncbi.nlm.nih.gov/articles/PMC8774267/
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. Although occurring at an incidence of 0.001% in the general population, they are relatively common in individuals with neurofibromatosis type 1 (NF1), for whom the lifetime risk approaches 10%. […] Up to 50% of all MPNSTs occur in patients with NF1. […] MPNST comprise 5-10% of soft tissue sarcomas and are one of the most common nonrhabdomyosarcomatous soft tissue sarcomas (NRSTS) in pediatric patients. […] A diagnosis of NF1 is the primary known risk factor. […] Moreover, among those patients with NF1, a family history of NF1 and MPNST appears to be associated with an approximately three-fold greater risk of developing an MPNST in that patient.
#9 Malignant peripheral nerve sheath tumor | Radiology Reference Article | Radiopaedia.org
https://radiopaedia.org/articles/malignant-peripheral-nerve-sheath-tumour?lang=us
Malignant peripheral nerve sheath tumors are estimated to account for 3-5% of all soft-tissue sarcomas. They typically present in young and middle-aged adults (20-50 years). There is no recognized gender predilection. […] Approximately half of such tumors are seen in individuals with neurofibromatosis type I (NF1), in such cases arising from pre-existing neurofibromas. […] MPNST are aggressive tumors that carry a poor prognosis, with 20-25% of patients developing metastases. Overall 5-year survival for sporadic tumors is 65%. Poor prognostic factors include NF1, large size, location on the trunk, and high-grade histological features.
#10 Malignant peripheral nerve sheath tumors (MPNST) â Clinicopathological study and treatment outcome of twenty-four cases | World Journal of Surgical Oncology | Full Text
https://wjso.biomedcentral.com/articles/10.1186/1477-7819-4-55
MPNSTs constituted a significant proportion (12%) of soft tissue sarcoma in our medical center. […] Sex and cellular differentiation were noticed as the new adverse prognostic factors and adjuvant radiotherapy has been proved to be a significant treatment tool in the current series. […] MPNST is a very rare tumor, with an incidence of 1 per 1,00,000 population and which constitutes between 3 to 10% of all soft tissue sarcomas. […] In contrast, in our series, MPNST constituted 12% (24/200) of all soft tissue sarcomas, with MPNST representing the second most common variety of soft tissue sarcoma seen. […] The association of MPNSTs with VRHD is well known and the series reported 5% to 42% neurofibromatosis patients develop sarcomas. […] In the current study, 21 % of patients had clinical features of VRHD, but their association did not affect the survival of the patients.
#11 Peripheral nerve tumors – Symptoms and causes – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors/symptoms-causes/syc-20355070
Peripheral nerve tumors are growths that form in or near nerves. Nerves are strands of tissue that transmit signals from the brain to the rest of the body. Peripheral nerves control muscles that allow you to walk, blink, swallow, pick things up and do other activities. […] Peripheral nerve tumors can occur anywhere in the body. Most of them are benign, meaning they’re not cancerous. But they can lead to pain, nerve damage and loss of function in the affected area. […] It’s not clear why most peripheral nerve tumors develop. Some are linked to known inherited syndromes, such as neurofibromatosis (types 1 and 2) and schwannomatosis. Others may be caused by changes in a gene. […] Peripheral nerve tumors are more common in people who have: Neurofibromatosis (types 1 and 2) and schwannomatosis. In these disorders, tumors develop on or near the nerves throughout the body. There are often multiple tumors. They can lead to a variety of symptoms depending on where they are in the body. These tumors are usually not cancerous. […] A person who was exposed to radiation is at higher risk of developing peripheral nerve tumors years later.
#12 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://pmc.ncbi.nlm.nih.gov/articles/PMC8774267/
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. Although occurring at an incidence of 0.001% in the general population, they are relatively common in individuals with neurofibromatosis type 1 (NF1), for whom the lifetime risk approaches 10%. […] Up to 50% of all MPNSTs occur in patients with NF1. […] MPNST comprise 5-10% of soft tissue sarcomas and are one of the most common nonrhabdomyosarcomatous soft tissue sarcomas (NRSTS) in pediatric patients. […] A diagnosis of NF1 is the primary known risk factor. […] Moreover, among those patients with NF1, a family history of NF1 and MPNST appears to be associated with an approximately three-fold greater risk of developing an MPNST in that patient.
#13 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://pmc.ncbi.nlm.nih.gov/articles/PMC8774267/
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. Although occurring at an incidence of 0.001% in the general population, they are relatively common in individuals with neurofibromatosis type 1 (NF1), for whom the lifetime risk approaches 10%. […] Up to 50% of all MPNSTs occur in patients with NF1. […] MPNST comprise 5-10% of soft tissue sarcomas and are one of the most common nonrhabdomyosarcomatous soft tissue sarcomas (NRSTS) in pediatric patients. […] A diagnosis of NF1 is the primary known risk factor. […] Moreover, among those patients with NF1, a family history of NF1 and MPNST appears to be associated with an approximately three-fold greater risk of developing an MPNST in that patient.
#14 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://pmc.ncbi.nlm.nih.gov/articles/PMC8774267/
Patients with whole-gene deletions of NF1, subcutaneous neurofibromas, or a larger number of plexiform neurofibromas are at particular risk of developing MPNST. […] The other primary known risk factor for MPNST development is radiation exposure, typically in the context of a secondary malignant neoplasm occurring following radiotherapy. […] In most series, patients with either a diagnosis of NF1 or prior radiotherapy have shown a worse overall survival compared to those with sporadic MPNSTs. […] The survival gap does appear to be narrowing, however, with patients with NF1-related MPNSTs faring better in studies performed more recently though still not as well as those with sporadic MPNSTs.
#15 Outcomes of Treatment for Malignant Peripheral Nerve Sheath Tumors: Different Clinical Features Associated with Neurofibromatosis Type 1
https://www.e-crt.org/journal/view.php?doi=10.4143/crt.2016.271
The life time risk of MPNST in NF-1 patients is high (8%-13%). This unique finding and the clinical characteristics associated with NF-MPNST affect the disease management patterns, including treatments and cancer surveillance. […] Patients with NF-MPNST undergo both imaging studies and operations more frequently, relative to those with sMPNSTs, in an attempt by clinicians and patients to achieve an early diagnosis and resection, and overcome the challenges in distinguishing MPNSTs from benign neurofibromas.
#16 Epidemiology of Genetic Diseases with Peripheral Nerve Tumors | SpringerLink
https://link.springer.com/chapter/10.1007/978-3-030-77633-6_24
Neoplasms of the peripheral nerve sheath may arise de novo, by spontaneous mutations involving a variety of genetic syndromes, but there appears to be a strong association between some inherited genetic syndromes and the development of peripheral nerve tumors. […] Most notably, neurofibromatosis type I (NF 1) and type II (NF 2) and schwannomatosis are syndromes that predispose individuals to developing peripheral nerve sheath tumors. […] Tumors associated with NF1 include cutaneous neurofibromas, intraneural neurofibromas, or the disease-defining plexiform neurofibromas. […] Malignant peripheral nerve sheath tumors are the only primary cancer of peripheral nerves and are the leading cause of death in NF1 individuals. […] Bilateral vestibular schwannomas are a hallmark of NF2, but affected individuals also have a high predisposition for peripheral nerve schwannomas, multiple meningiomas, and ependymomas.
#17 Epidemiology of Genetic Diseases with Peripheral Nerve Tumors | SpringerLink
https://link.springer.com/chapter/10.1007/978-3-030-77633-6_24
Schwannomatosis is a recently recognized addition to the neurofibromatoses that demonstrates a high propensity toward the development of multiple schwannomas. […] Besides the neurofibromatosis group, some genetically inherited endocrinopathies such as Carney complex and multiple endocrine neoplasia type 2B may predispose individuals toward developing peripheral nerve sheath tumors.
#18 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://pmc.ncbi.nlm.nih.gov/articles/PMC8774267/
Patients with whole-gene deletions of NF1, subcutaneous neurofibromas, or a larger number of plexiform neurofibromas are at particular risk of developing MPNST. […] The other primary known risk factor for MPNST development is radiation exposure, typically in the context of a secondary malignant neoplasm occurring following radiotherapy. […] In most series, patients with either a diagnosis of NF1 or prior radiotherapy have shown a worse overall survival compared to those with sporadic MPNSTs. […] The survival gap does appear to be narrowing, however, with patients with NF1-related MPNSTs faring better in studies performed more recently though still not as well as those with sporadic MPNSTs.
#19 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
MPNST are rare aggressive tumors with an estimated incidence of 1.46 per 1,000,000 individuals accounting for 2â10% of all soft tissue sarcomas. Perineural MPNST are the most frequent form, while epithelioid MPNST are particularly rare. Typically, MPNST arise from a pre-existing benign nerve sheath tumor, or deep-seated plexiform neurofibroma, or large intraneural neurofibroma, or atypical neurofibromatous neoplasm in 8â13% of patients with NF1, representing almost 50% of all MPNST cases. Another 40% of MPNST occur sporadically, and 5% following radiotherapy. Patients with MPNST commonly are 20- to 50-year-olds and display large masses, primarily located along extremities, trunk, head, and neck area, that may cause pain or other neuropathic symptoms. MPNST have a significant risk to recur (40â65%) and metastasize (40â80%), resulting in a poor prognosis, with 5-year overall survival following treatments of 30â60%.
#20 Peripheral nerve tumors – Symptoms and causes – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors/symptoms-causes/syc-20355070
Peripheral nerve tumors are growths that form in or near nerves. Nerves are strands of tissue that transmit signals from the brain to the rest of the body. Peripheral nerves control muscles that allow you to walk, blink, swallow, pick things up and do other activities. […] Peripheral nerve tumors can occur anywhere in the body. Most of them are benign, meaning they’re not cancerous. But they can lead to pain, nerve damage and loss of function in the affected area. […] It’s not clear why most peripheral nerve tumors develop. Some are linked to known inherited syndromes, such as neurofibromatosis (types 1 and 2) and schwannomatosis. Others may be caused by changes in a gene. […] Peripheral nerve tumors are more common in people who have: Neurofibromatosis (types 1 and 2) and schwannomatosis. In these disorders, tumors develop on or near the nerves throughout the body. There are often multiple tumors. They can lead to a variety of symptoms depending on where they are in the body. These tumors are usually not cancerous. […] A person who was exposed to radiation is at higher risk of developing peripheral nerve tumors years later.
#21 Epidemiologic and survival analysis of malignant peripheral nerve sheath tumors: a retrospective cohort study
https://pmc.ncbi.nlm.nih.gov/articles/PMC11634120/
The incidence remains constant among non-White individuals and those at younger ages. […] Surgical intervention was identified as the most efficacious for malignant peripheral nerve sheath tumor (MPNST). […] Survivors are confronted with elevated risk of subsequent cancer and co-morbidities. […] Findings may inform tailored strategies and long-term surveillance for MPNST. […] This study characterized the evolving epidemiological and survival pattern of MPNST between 2000 and 2019. […] Despite the dramatic reductions in overall incidence, the incidence remained constant among those vulnerable groups who may be associated with NF1 mutation. […] Factors including age, tumor size, histological grade, clinical stage, and therapeutic interventions were found to exert a significant influence on overall survival. […] Among treatment modalities, surgical intervention was identified as the most efficacious. […] The necessity for aggressive treatment in high-risk groups and the importance of regular monitoring for early SPC detection in survivors are emphasized.
#22
https://journals.lww.com/international-journal-of-surgery/citation/9900/epidemiologic_and_survival_analysis_of_malignant.1731.aspx
The incidence remains constant among non-White individuals and those at younger ages. […] Findings may inform tailored strategies and long-term surveillance for MPNST. […] This study characterized the evolving epidemiological and survival pattern of MPNST between 2000 and 2019. […] Despite the dramatic reductions in overall incidence, the incidence remained constant among those vulnerable groups who may be associated with NF1 mutation. […] The necessity for aggressive treatment in high-risk groups and the importance of regular monitoring for early SPC detection in survivors are emphasized.
#23 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://www.mdpi.com/2227-9067/9/1/38
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. Although occurring at an incidence of 0.001% in the general population, they are relatively common in individuals with neurofibromatosis type 1 (NF1), for whom the lifetime risk approaches 10%. […] Up to 50% of all MPNSTs occur in patients with NF1. […] All-told, MPNST comprise 5â10% of soft tissue sarcomas and are one of the most common nonrhabdomyosarcomatous soft tissue sarcomas (NRSTS) in pediatric patients. […] Whereas about 10â20% of all MPNSTs are diagnosed in children, there is no difference between children and adults in tumor location, size, or histological gradeâalthough adults are more likely to have more than one primary tumor at the time of diagnosis.
#24 The clinical course and role of surgery in pediatric malignant peripheral nerve sheath tumors: a database study in: Journal of Neurosurgery: Pediatrics Volume 29 Issue 1 (2021) Journals
https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/29/1/article-p92.xml
Malignant peripheral nerve sheath tumors (MPNSTs) are rare tumors found throughout the body, with their clinical course in children still not completely understood. Correspondingly, this study aimed to determine survival outcomes and specific clinical predictors of survival in this population from a large national database. […] A total of 251 pediatric patients with MPNSTs (132 [53%] females and 119 [47%] males) were identified; the mean age at diagnosis was 13.1 years (range 118 years). […] The 5-year overall survival rate was estimated at 52% (95% CI 45%59%), with a median survival of 64 months (range 36136 months). […] In this study, the authors found that older patient age, tumor metastases at the time of diagnosis, and undergoing only biopsy significantly and independently predicted poorer outcomes.
#25 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://pmc.ncbi.nlm.nih.gov/articles/PMC8774267/
Patients with whole-gene deletions of NF1, subcutaneous neurofibromas, or a larger number of plexiform neurofibromas are at particular risk of developing MPNST. […] The other primary known risk factor for MPNST development is radiation exposure, typically in the context of a secondary malignant neoplasm occurring following radiotherapy. […] In most series, patients with either a diagnosis of NF1 or prior radiotherapy have shown a worse overall survival compared to those with sporadic MPNSTs. […] The survival gap does appear to be narrowing, however, with patients with NF1-related MPNSTs faring better in studies performed more recently though still not as well as those with sporadic MPNSTs.
#26 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://www.mdpi.com/2227-9067/9/1/38
A particular characteristic of NF1 is the extreme heterogeneity of its clinical manifestations, which may vary wildly even among members of the same kindred. […] The survival gap does appear to be narrowing, however, with patients with NF1-related MPNSTs faring better in studies performed more recentlyâthough still not as well as those with sporadic MPNSTs. […] In most series, patients with either a diagnosis of NF1 or prior radiotherapy have shown a worse overall survival compared to those with sporadic MPNSTsâlikely due to the greater propensity towards metastases and/or local invasion demonstrated by tumors in these patients. […] The recent Childrenâs Oncology Group (COG) ARST0332 trial (which included MPNSTs) utilized the AJCC sixth edition staging system, which was current at the time of study inception.
#27 Malignant Peripheral Nerve Sheath TumorsâA Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management
https://www.mdpi.com/2227-9067/9/1/38
A particular characteristic of NF1 is the extreme heterogeneity of its clinical manifestations, which may vary wildly even among members of the same kindred. […] The survival gap does appear to be narrowing, however, with patients with NF1-related MPNSTs faring better in studies performed more recentlyâthough still not as well as those with sporadic MPNSTs. […] In most series, patients with either a diagnosis of NF1 or prior radiotherapy have shown a worse overall survival compared to those with sporadic MPNSTsâlikely due to the greater propensity towards metastases and/or local invasion demonstrated by tumors in these patients. […] The recent Childrenâs Oncology Group (COG) ARST0332 trial (which included MPNSTs) utilized the AJCC sixth edition staging system, which was current at the time of study inception.
#28 Survival outcomes of malignant peripheral nerve sheath tumors (MPNSTs) with and without neurofibromatosis type I (NF1): a meta-analysis | World Journal of Surgical Oncology | Full Text
https://wjso.biomedcentral.com/articles/10.1186/s12957-023-03296-z
Malignant peripheral nerve sheath tumors (MPNSTs) are malignancies that demonstrate nerve sheath differentiation in the peripheral nervous system. They can occur sporadically or be associated with neurofibromatosis type 1 (NF1), an autosomal dominant neurocutaneous disorder, with up to 13% of patients developing MPNSTs in their lifetimes. […] NF1 is associated with a substantially higher risk of all-cause and disease-specific mortality. This finding suggests that closer surveillance is required for NF1 patients at risk of developing MPNSTs. […] The prognosis for MPNST is poor and has remained abysmal in the last few decades with 5-year survival rates ranging between 16 and 62%. […] Given that NF1 has been established as a significant predictor of mortality, we propose considering NF1 status when staging MPNSTs and advocate closer monitoring of these patients.
#29 Peripheral nerve tumors – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors/diagnosis-treatment/drc-20355075
Peripheral nerve tumors aren’t common. It’s important to find a provider who is experienced in diagnosing and treating them. If needed, seek a second opinion. […] Watching and waiting to see if the tumor grows may be an option if it’s in a place that makes removal difficult. Or it may be an option if the tumor is small, slow growing, and causes few or no symptoms. You’ll have regular checkups and may have MRI scans, CT scans or ultrasounds done every 6 to 12 months to see if the tumor is growing. If repeat scans show that the tumor is stable, then it may be monitored every several years. […] Early diagnosis and treatment are the most important factors for a good outcome. Tumors may come back after treatment.
#30 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
The frequency of surveillance imaging with MRI should be based on the extent of resection (GTR vs. non-GTR) and tumor aggressiveness, and the duration should be up to 5 years in PNST. Annual MRI is recommended for 5 years in patients with untreated, incidental schwannomas, as well as conservatively treated, irradiated, and incompletely resected vestibular schwannomas. Thereafter, the follow-up intervals can be increased. Repeated surgery in patients with local tumor progression or recurrence of PNST should be considered. […] The Table 1 summarizes epidemiologic and clinical features of cranial and peripheral nerve tumors.
#31 Peripheral nerve tumors – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors/diagnosis-treatment/drc-20355075
Peripheral nerve tumors aren’t common. It’s important to find a provider who is experienced in diagnosing and treating them. If needed, seek a second opinion. […] Watching and waiting to see if the tumor grows may be an option if it’s in a place that makes removal difficult. Or it may be an option if the tumor is small, slow growing, and causes few or no symptoms. You’ll have regular checkups and may have MRI scans, CT scans or ultrasounds done every 6 to 12 months to see if the tumor is growing. If repeat scans show that the tumor is stable, then it may be monitored every several years. […] Early diagnosis and treatment are the most important factors for a good outcome. Tumors may come back after treatment.
#32 Outcomes of Treatment for Malignant Peripheral Nerve Sheath Tumors: Different Clinical Features Associated with Neurofibromatosis Type 1
https://www.e-crt.org/journal/view.php?doi=10.4143/crt.2016.271
The life time risk of MPNST in NF-1 patients is high (8%-13%). This unique finding and the clinical characteristics associated with NF-MPNST affect the disease management patterns, including treatments and cancer surveillance. […] Patients with NF-MPNST undergo both imaging studies and operations more frequently, relative to those with sMPNSTs, in an attempt by clinicians and patients to achieve an early diagnosis and resection, and overcome the challenges in distinguishing MPNSTs from benign neurofibromas.
#33 Benign peripheral nerve tumor | Beacon Health System
https://www.beaconhealthsystem.org/library/diseases-and-conditions/benign-peripheral-nerve-tumor?content_id=CON-20341913
Risk factors may be different based on the type of benign peripheral nerve tumor. […] For neurofibromas, having the genetic condition known as neurofibromatosis type 1 (NF1) is a risk factor. NF1 can cause someone to have several neurofibromas. But most people who have neurofibromas don’t have NF1. […] People with NF1 are also at increased risk for developing a malignant peripheral nerve sheath tumor. Its important for them to check in often with a health care professional to monitor that risk. […] For schwannomas, having the gene that causes schwannomatosis is a risk factor.
#34 Epidemiologic and survival analysis of malignant peripheral nerve sheath tumors: a retrospective cohort study
https://pmc.ncbi.nlm.nih.gov/articles/PMC11634120/
The incidence remains constant among non-White individuals and those at younger ages. […] Surgical intervention was identified as the most efficacious for malignant peripheral nerve sheath tumor (MPNST). […] Survivors are confronted with elevated risk of subsequent cancer and co-morbidities. […] Findings may inform tailored strategies and long-term surveillance for MPNST. […] This study characterized the evolving epidemiological and survival pattern of MPNST between 2000 and 2019. […] Despite the dramatic reductions in overall incidence, the incidence remained constant among those vulnerable groups who may be associated with NF1 mutation. […] Factors including age, tumor size, histological grade, clinical stage, and therapeutic interventions were found to exert a significant influence on overall survival. […] Among treatment modalities, surgical intervention was identified as the most efficacious. […] The necessity for aggressive treatment in high-risk groups and the importance of regular monitoring for early SPC detection in survivors are emphasized.
#35
https://journals.lww.com/international-journal-of-surgery/citation/9900/epidemiologic_and_survival_analysis_of_malignant.1731.aspx
The incidence remains constant among non-White individuals and those at younger ages. […] Findings may inform tailored strategies and long-term surveillance for MPNST. […] This study characterized the evolving epidemiological and survival pattern of MPNST between 2000 and 2019. […] Despite the dramatic reductions in overall incidence, the incidence remained constant among those vulnerable groups who may be associated with NF1 mutation. […] The necessity for aggressive treatment in high-risk groups and the importance of regular monitoring for early SPC detection in survivors are emphasized.
#36 Epidemiologic and survival analysis of malignant peripheral nerve sheath tumors: a retrospective cohort study
https://pmc.ncbi.nlm.nih.gov/articles/PMC11634120/
The incidence remains constant among non-White individuals and those at younger ages. […] Surgical intervention was identified as the most efficacious for malignant peripheral nerve sheath tumor (MPNST). […] Survivors are confronted with elevated risk of subsequent cancer and co-morbidities. […] Findings may inform tailored strategies and long-term surveillance for MPNST. […] This study characterized the evolving epidemiological and survival pattern of MPNST between 2000 and 2019. […] Despite the dramatic reductions in overall incidence, the incidence remained constant among those vulnerable groups who may be associated with NF1 mutation. […] Factors including age, tumor size, histological grade, clinical stage, and therapeutic interventions were found to exert a significant influence on overall survival. […] Among treatment modalities, surgical intervention was identified as the most efficacious. […] The necessity for aggressive treatment in high-risk groups and the importance of regular monitoring for early SPC detection in survivors are emphasized.
#37 Malignant peripheral nerve sheath tumor | Radiology Reference Article | Radiopaedia.org
https://radiopaedia.org/articles/malignant-peripheral-nerve-sheath-tumour?lang=us
Malignant peripheral nerve sheath tumors are estimated to account for 3-5% of all soft-tissue sarcomas. They typically present in young and middle-aged adults (20-50 years). There is no recognized gender predilection. […] Approximately half of such tumors are seen in individuals with neurofibromatosis type I (NF1), in such cases arising from pre-existing neurofibromas. […] MPNST are aggressive tumors that carry a poor prognosis, with 20-25% of patients developing metastases. Overall 5-year survival for sporadic tumors is 65%. Poor prognostic factors include NF1, large size, location on the trunk, and high-grade histological features.
#38 Orphanet: Malignant peripheral nerve sheath tumor
https://www.orpha.net/en/disease/detail/3148
Exact prevalence and incidence are unknown. Incidence of MPNST in the general population has been reported to be 1/100,000. MPNSTs account for about 5 to 10% of all soft tissue sarcomas. The sex ratio is about equal. Incidence among neurofibromatosis type 1 patients (NF1) is reported to be approximately 5 to 10%. […] Prognosis is generally poor and depends on the size of the tumor and success of treatment. A less favorable prognosis is associated with large tumors, NF1-associated cases, and truncal localization. The recurrence rate is reported to be as high as 40% and approximately two thirds of cases metastasize (lungs and bone). Five-year survival rate is reported to be 26% to 60%, and 10-year survival to be around 45%.
#39 Malignant peripheral nerve sheath tumors (MPNST) â Clinicopathological study and treatment outcome of twenty-four cases | World Journal of Surgical Oncology | Full Text
https://wjso.biomedcentral.com/articles/10.1186/1477-7819-4-55
MPNST constituted 12% of all soft tissue sarcomas, where 21% (5/24) of patients had associated Von Recklinghausen’s disease (VRHD). […] A higher incidence of male preponderance and multifocal MPNST were noted in the present series. […] In univariate analysis, sex (p = 0.05), tumor depth (p 0.03), and cellular differentiation (p 0.002) were shown to be adverse prognostic factors for disease free survival and sex (p = 0.04), cellular differentiation (p 0.0004), and tumor grade (p = 0.05) for overall survival. […] However, in multivariate analysis, cellular differentiation (p 0.005) and tumor grade (p 0.01) emerged as independent prognostic factors for both disease free and overall survival, respectively. […] Postoperative radiotherapy (RT) has shown a definite role in both disease free and overall survival in this study.
#40 Survival outcomes of malignant peripheral nerve sheath tumors (MPNSTs) with and without neurofibromatosis type I (NF1): a meta-analysis | World Journal of Surgical Oncology | Full Text
https://wjso.biomedcentral.com/articles/10.1186/s12957-023-03296-z
Malignant peripheral nerve sheath tumors (MPNSTs) are malignancies that demonstrate nerve sheath differentiation in the peripheral nervous system. They can occur sporadically or be associated with neurofibromatosis type 1 (NF1), an autosomal dominant neurocutaneous disorder, with up to 13% of patients developing MPNSTs in their lifetimes. […] NF1 is associated with a substantially higher risk of all-cause and disease-specific mortality. This finding suggests that closer surveillance is required for NF1 patients at risk of developing MPNSTs. […] The prognosis for MPNST is poor and has remained abysmal in the last few decades with 5-year survival rates ranging between 16 and 62%. […] Given that NF1 has been established as a significant predictor of mortality, we propose considering NF1 status when staging MPNSTs and advocate closer monitoring of these patients.
#41 Survival outcomes of malignant peripheral nerve sheath tumors (MPNSTs) with and without neurofibromatosis type I (NF1): a meta-analysis | World Journal of Surgical Oncology | Full Text
https://wjso.biomedcentral.com/articles/10.1186/s12957-023-03296-z
The results of this study show that NF1 is associated with a substantially higher risk of all-cause and disease-specific mortality for MPNSTs. We found no significant change in the association of NF1 as a poor prognostic indicator of mortality with time of publication or with the anatomical location of the tumor. As such, clinicians should consider NF1 status in staging the disease and closer monitoring of NF1 patients at risk of developing MPNSTs to enhance their survival rates through timely intervention.
#42 The clinical course and role of surgery in pediatric malignant peripheral nerve sheath tumors: a database study in: Journal of Neurosurgery: Pediatrics Volume 29 Issue 1 (2021) Journals
https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/29/1/article-p92.xml
Malignant peripheral nerve sheath tumors (MPNSTs) are rare tumors found throughout the body, with their clinical course in children still not completely understood. Correspondingly, this study aimed to determine survival outcomes and specific clinical predictors of survival in this population from a large national database. […] A total of 251 pediatric patients with MPNSTs (132 [53%] females and 119 [47%] males) were identified; the mean age at diagnosis was 13.1 years (range 118 years). […] The 5-year overall survival rate was estimated at 52% (95% CI 45%59%), with a median survival of 64 months (range 36136 months). […] In this study, the authors found that older patient age, tumor metastases at the time of diagnosis, and undergoing only biopsy significantly and independently predicted poorer outcomes.
#43 Peripheral nerve tumors – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors/diagnosis-treatment/drc-20355075
Peripheral nerve tumors aren’t common. It’s important to find a provider who is experienced in diagnosing and treating them. If needed, seek a second opinion. […] Watching and waiting to see if the tumor grows may be an option if it’s in a place that makes removal difficult. Or it may be an option if the tumor is small, slow growing, and causes few or no symptoms. You’ll have regular checkups and may have MRI scans, CT scans or ultrasounds done every 6 to 12 months to see if the tumor is growing. If repeat scans show that the tumor is stable, then it may be monitored every several years. […] Early diagnosis and treatment are the most important factors for a good outcome. Tumors may come back after treatment.
#44 Peripheral nerve tumors // Middlesex Health
https://middlesexhealth.org/learning-center/diseases-and-conditions/peripheral-nerve-tumors
Peripheral nerve tumors are more common in people who have: […] Neurofibromatosis (types 1 and 2) and schwannomatosis. In these disorders, tumors develop on or near the nerves throughout the body. There are often multiple tumors. They can lead to a variety of symptoms depending on where they are in the body. These tumors are usually not cancerous. […] A history of radiation treatment. A person who was exposed to radiation is at higher risk of developing peripheral nerve tumors years later. […] Peripheral nerve tumors aren’t common. It’s important to find a provider who is experienced in diagnosing and treating them. If needed, seek a second opinion.
#45 Nerve Tumors | Brain Institute | OHSU
https://www.ohsu.edu/brain-institute/nerve-tumors
The OHSU Nerve Center offers the expertise to precisely diagnose and treat peripheral nerve tumors. Specialty care and early diagnosis can be especially important for nerve tumors, which can range from simple to complex. […] Early diagnosis is important for nerve tumors. Malignant peripheral nerve tumors are rare but require aggressive treatment for the best possible outcome.
#46 Nerve Tumors | Brain Institute | OHSU
https://www.ohsu.edu/brain-institute/nerve-tumors
The OHSU Nerve Center offers the expertise to precisely diagnose and treat peripheral nerve tumors. Specialty care and early diagnosis can be especially important for nerve tumors, which can range from simple to complex. […] Early diagnosis is important for nerve tumors. Malignant peripheral nerve tumors are rare but require aggressive treatment for the best possible outcome.
#47 Epidemiologic and survival analysis of malignant peripheral nerve sheath tumors: a retrospective cohort study
https://pmc.ncbi.nlm.nih.gov/articles/PMC11634120/
The incidence remains constant among non-White individuals and those at younger ages. […] Surgical intervention was identified as the most efficacious for malignant peripheral nerve sheath tumor (MPNST). […] Survivors are confronted with elevated risk of subsequent cancer and co-morbidities. […] Findings may inform tailored strategies and long-term surveillance for MPNST. […] This study characterized the evolving epidemiological and survival pattern of MPNST between 2000 and 2019. […] Despite the dramatic reductions in overall incidence, the incidence remained constant among those vulnerable groups who may be associated with NF1 mutation. […] Factors including age, tumor size, histological grade, clinical stage, and therapeutic interventions were found to exert a significant influence on overall survival. […] Among treatment modalities, surgical intervention was identified as the most efficacious. […] The necessity for aggressive treatment in high-risk groups and the importance of regular monitoring for early SPC detection in survivors are emphasized.
#48 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
The frequency of surveillance imaging with MRI should be based on the extent of resection (GTR vs. non-GTR) and tumor aggressiveness, and the duration should be up to 5 years in PNST. Annual MRI is recommended for 5 years in patients with untreated, incidental schwannomas, as well as conservatively treated, irradiated, and incompletely resected vestibular schwannomas. Thereafter, the follow-up intervals can be increased. Repeated surgery in patients with local tumor progression or recurrence of PNST should be considered. […] The Table 1 summarizes epidemiologic and clinical features of cranial and peripheral nerve tumors.
#49 Malignant peripheral nerve sheath tumour (MPNST) | Soft tissue sarcoma | Cancer Research UK
https://www.cancerresearchuk.org/about-cancer/soft-tissue-sarcoma/types/malignant-schwannoma
Malignant peripheral nerve sheath tumours (MPNSTs) is rare. […] MPNST are rare in the general population. […] Malignant peripheral nerve sheath tumours can be difficult to treat. […] A malignant peripheral nerve sheath tumour can come back in the same place. This is called local recurrence. […] It can be more difficult to treat if the sarcoma comes back.
#50 Malignant peripheral nerve sheath tumors (MPNST) â Clinicopathological study and treatment outcome of twenty-four cases | World Journal of Surgical Oncology | Full Text
https://wjso.biomedcentral.com/articles/10.1186/1477-7819-4-55
Routine preoperative electrophysiological examination is not integral to the management of MPNST. […] Imaging is routinely performed to assess the extent of the disease and plan surgical resection. […] Radical surgical resection is the treatment of choice in MPNST. […] However, there are reports of routine postoperative radiotherapy and even radiotherapy as a single modality alone for MPNST in literature. […] In view of the rarity of this entity and conflicting reports, it is difficult to define the role of radiation in the management of MPNSTs. […] MPNST has the highest recurrence rate of any sarcomas, and adequate initial treatment gives the best chance of survival. […] The most important feature in present study was the nature of the disease relapse due to which even one patient could not be surgically salvaged and were treated with palliative chemotherapy.
#51 The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation | Scientific Reports
https://www.nature.com/articles/s41598-017-15183-1
Malignant peripheral nerve sheath tumor (MPNST) is an aggressive subtype of soft tissue sarcoma. Approximately half of MPNSTs are associated with neurofibromatosis type 1 (NF1), and this syndrome is associated with an approximate 10-15% lifetime risk of development of this cancer. […] In MPNST, loss of PRC2 function is believed to amplify Ras pathway activation via direct transcriptional regulatory effects. […] Notably, we also identified frequent Ras pathway activating somatic mutations outside of these previously reported recurrently mutated genes. Five of the 12 MPNST in our cohort (42%) contained such a mutation. […] Our study emphasizes that Ras activation in MPNST is complex. In most MPNST, activation of this pathway takes multiple hits, can be activated by a variety of pathways (ex: PRC2/epigenetic) and is activated at multiple positions within the Ras-axis. Future study is warranted to further expand upon potential additional mechanisms of Ras-activation including molecular changes affecting non-coding or regulatory elements of the genome. […] Given the complexity by which Ras is activated in MPNST, we hypothesize that targeting this pathway is unlikely to be successful with inhibition at a single point in the Ras-axis.
#52 SEER Inquiry System – Question 20071093 Details
https://seer.cancer.gov/seer-inquiry/inquiry-detail/20071093/
Benign and borderline tumors of the peripheral nerves (C47_), including peripheral nerves along the spinal cord, are not reportable. […] Please note: spinal schwannomas arising in the nerve root or spinal dura are reportable.
#53 SEER Inquiry System – Question 20071132 Details
https://seer.cancer.gov/seer-inquiry/inquiry-detail/20071132/
Schwannomas and neurofibromas of the peripheral nerves are not reportable. […] Like schwannomas, neurofibromas are tumors of the peripheral nerves and are not reportable.
#54 Incidence of malignant peripheral nerve sheath tumor in Saudi Arabia: a registrybased descriptive analysis | International Journal of Medicine in Developing Countries
https://www.ijmdc.com/?mno=222098
Incidence of malignant peripheral nerve sheath tumor in Saudi Arabia: a registrybased descriptive analysis. This study was conducted to report the incidence and provide an overview of MPNSTs in Saudi Arabia due to the rarity and lack of studies on MPNSTs in the country. The annual incidence in Saudi Arabia is 0.076 per million people. This study revealed a low incidence of MPNSTs in Saudi Arabia, providing information on gender distribution, age, geographical distribution, tumor site, grading, and tumor extension. […] Malignant peripheral nerve sheath tumors (MPNSTs) refer to malignant tumors in the cells of the peripheral nerve or nerve sheath.
#55 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
The EUropean Network for RAre CANcers (EURACAN) established a multidisciplinary task force to develop expert recommendations on peripheral and cranial nerve sheath tumors. The task force reviewed the available English literature until September 2022, classified the scientific evidence into classes IâIV, and developed recommendations at levels AâC according to the European Federation of the Neurological Societies Guidelines. In case sufficient evidence for recommendations was not available, the task force delivered advice as a good practice point or expert opinion. […] The 2021 WHO classification of the CNS Tumors identifies as âPeripheral nerve sheath tumorsâ (PNST) some entities with specific clinical and anatomical characteristics, histological and molecular markers, imaging findings, and aggressiveness. The Task Force has reviewed the evidence of diagnostic and therapeutic interventions, which is particularly low due to the rarity, and drawn recommendations accordingly. Tumor diagnosis is primarily based on hematoxylin and eosin-stained sections and immunohistochemistry. Molecular analysis is not essential to establish the histological nature of these tumors, although genetic analyses on DNA extracted from PNST (neurofibromas/schwannomas) is required to diagnose mosaic forms of NF1 and SPS. MRI is the gold-standard to delineate the extension with respect to adjacent structures.
#56 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
Schwannomas are benign nerve sheath tumors composed of differentiated neoplastic Schwann cells. Up to 90% of schwannomas are solitary and sporadic, and affect people of all ages, with a peak incidence in the fourth to sixth decades of life. An increased incidence of schwannomas after prior irradiation has been reported. A common presentation consists in an asymptomatic lesion of the skin or subcutaneous tissue of the head and neck, or along the flexor surfaces of the extremities. Spinal intradural extramedullary location is also frequent in schwannomas, that grow through neural foramina, causing radicular pain or sensory or, less frequently, motor symptoms. Multiple paraspinal schwannomas are typical of neurofibromatosis type 2 (NF2). A frequent cranial location is the vestibular compartment of the eight cranial nerves. Vestibular schwannomas represent the third most common intracranial non-malignant tumor entity and comprise over 80% of tumors in the cerebellopontine angle. Most of patients report unilateral hearing loss (94%) and tinnitus (83%), while vestibular symptoms, such as vertigo and unsteadiness, range from 17% to 75% of patients. Schwannomas do not usually recur if treated by gross total resection. Malignant transformation is exceptionally rare, and few case reports have reported a transformation in epithelioid MPNST.
#57 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
Neurofibroma is a frequent benign peripheral nerve sheath tumor (5.3% of all benign soft tissue tumors), and appears as a soft, skin-colored papule or small subcutaneous nodule. The most common site is the skin, with predominant dermal involvement; less frequently, the tumor involves medium-sized nerves, a nerve plexus, a major nerve trunk, or spinal nerve roots. Bilateral and/or multiple spinal root neurofibromas are typical of NF1, while cranial nerve neurofibromas are anecdotal. Cutaneous neurofibromas are usually asymptomatic, rarely painful, and the most common chief complaint is the cosmetic appearance. Motor or sensory symptoms may occur when neurofibromas are in a deep location according with the distribution of the affected nerve. Neurofibroma can be classified into three types, such as localized or solitary, diffuse, and plexiform neurofibroma. The presence of multiple neurofibromas or plexiform neurofibromas is strongly suggestive of NF1, especially when associated with typical findings. Plexiform neurofibromas carry an increased risk of malignant transformation, particularly in NF1 patients.
#58 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative
https://www.mdpi.com/2072-6694/15/7/1930
MPNST are rare aggressive tumors with an estimated incidence of 1.46 per 1,000,000 individuals accounting for 2â10% of all soft tissue sarcomas. Perineural MPNST are the most frequent form, while epithelioid MPNST are particularly rare. Typically, MPNST arise from a pre-existing benign nerve sheath tumor, or deep-seated plexiform neurofibroma, or large intraneural neurofibroma, or atypical neurofibromatous neoplasm in 8â13% of patients with NF1, representing almost 50% of all MPNST cases. Another 40% of MPNST occur sporadically, and 5% following radiotherapy. Patients with MPNST commonly are 20- to 50-year-olds and display large masses, primarily located along extremities, trunk, head, and neck area, that may cause pain or other neuropathic symptoms. MPNST have a significant risk to recur (40â65%) and metastasize (40â80%), resulting in a poor prognosis, with 5-year overall survival following treatments of 30â60%.
#59 Orphanet: Malignant peripheral nerve sheath tumor
https://www.orpha.net/en/disease/detail/3148
Exact prevalence and incidence are unknown. Incidence of MPNST in the general population has been reported to be 1/100,000. MPNSTs account for about 5 to 10% of all soft tissue sarcomas. The sex ratio is about equal. Incidence among neurofibromatosis type 1 patients (NF1) is reported to be approximately 5 to 10%. […] Prognosis is generally poor and depends on the size of the tumor and success of treatment. A less favorable prognosis is associated with large tumors, NF1-associated cases, and truncal localization. The recurrence rate is reported to be as high as 40% and approximately two thirds of cases metastasize (lungs and bone). Five-year survival rate is reported to be 26% to 60%, and 10-year survival to be around 45%.
#60 Neurilemmoma (Schwannoma): Practice Essentials, Etiology, Epidemiology
https://emedicine.medscape.com/article/1256405-overview
Neurilemmoma is the most common neurogenic tumor, but precise prevalence figures have not been established. These tumors affect persons aged 20-50 years. No racial or sex predilection is recognized. Common locations for neurilemmomas are, in order of decreasing frequency, the head and neck, the flexor surfaces of the upper and lower extremities, and the trunk. […] Rare descriptions exist of malignant change in long-standing neurilemmomas. Malignant change is extremely rare in isolated lesions.