Mięsak stawowy
Etiologia i przyczyny

Mięsak stawowy (synovial sarcoma) to rzadki, złośliwy nowotwór tkanek miękkich, najczęściej lokalizujący się w okolicy dużych stawów, zwłaszcza kolan, łokci, bioder i ramion. Kluczowym czynnikiem etiologicznym jest specyficzna translokacja chromosomowa t(X;18)(p11;q11), obecna w ponad 90% przypadków, prowadząca do powstania genu fuzyjnego SS18-SSX. Białko fuzyjne SS18-SSX zaburza funkcję kompleksu BAF, wyparcie białka supresorowego BAF47 oraz aktywację genu Sox2, co skutkuje nieprawidłową ekspresją genów i rozwojem guza. Mutacja ta jest somatyczna, nie germinalna, co wyklucza dziedziczenie. Mięsak charakteryzuje się powolnym wzrostem, ale wysokim ryzykiem inwazji lokalnej i przerzutów (30-60%), które mogą pojawić się nawet po 5 latach od diagnozy.

Definicja mięsaka stawowego (synovial sarcoma)

Mięsak stawowy (synovial sarcoma) to rzadki typ nowotworu złośliwego tkanek miękkich, który zazwyczaj występuje w pobliżu dużych stawów, szczególnie kolan, a także łokci, bioder i ramion, choć może rozwinąć się w dowolnej części ciała.123 Wbrew swojej nazwie, mięsak stawowy rzadko występuje wewnątrz samych stawów i nie wywodzi się z tkanki maziowej, mimo że pod mikroskopem przypomina dojrzałą błonę maziową – jest to zatem nazwa myląca.456

Podłoże genetyczne mięsaka stawowego

Najważniejszym czynnikiem etiologicznym w rozwoju mięsaka stawowego jest obecność specyficznej translokacji chromosomowej. Ponad 90% przypadków mięsaka stawowego charakteryzuje się obecnością translokacji między chromosomem X a chromosomem 18, oznaczanej jako t(X;18)(p11;q11).789 Translokacja ta prowadzi do połączenia genu SS18 (SYT) z chromosomu 18 z jednym z genów SSX (SSX1, SSX2 lub rzadziej SSX4) znajdujących się na chromosomie X.1011

W wyniku tej translokacji powstaje gen fuzyjny SS18-SSX, który koduje białko fuzyjne odpowiedzialne za zaburzenie ekspresji genów i rozwój nowotworu.1213 Białko fuzyjne SS18-SSX wiąże się z kompleksem BAF, co prowadzi do wyparcia supresorowego białka BAF47. Nowo utworzony kompleks BAF aktywuje gen Sox2, co przyczynia się do powstawania guza.1415

Charakter mutacji w mięsaku stawowym

Ważne jest zrozumienie, że mutacja genetyczna związana z mięsakiem stawowym nie jest mutacją germinalną (dziedziczną), a somatyczną, co oznacza, że nie jest przekazywana potomstwu.1617 Mutacje somatyczne powstają w ciągu życia jednostki i nie są dziedziczone.18 Mimo że mutacja ta jest charakterystyczna dla mięsaka stawowego, dokładna przyczyna jej powstawania pozostaje nieznana.1920

Badania molekularne nad białkiem fuzyjnym SS18-SSX wykazały, że może ono powodować nieprawidłową aktywację genów, które normalnie są wyciszone, co przyczynia się do złośliwego rozrostu guzów mięsaka stawowego.21 Białko to zakłóca i przekierowuje kontrolę ekspresji genów w komórkach, co prowadzi do niekontrolowanego wzrostu.22

Czynniki ryzyka mięsaka stawowego

Narażenie na promieniowanie

Jednym z potencjalnych czynników ryzyka rozwoju mięsaka stawowego jest wcześniejsza ekspozycja na promieniowanie jonizujące, szczególnie w ramach radioterapii stosowanej w leczeniu innych nowotworów.2324 Mięsak stawowy indukowany promieniowaniem jest jednak niezwykle rzadkim zjawiskiem, choć został opisany w literaturze medycznej.2526 Warto podkreślić, że ekspozycja na promieniowanie odpowiada za mniej niż 5% wszystkich mięsaków.27

Jeśli mięsak stawowy rozwija się po wcześniejszej radioterapii, zazwyczaj pojawia się w miejscu, które było poddawane napromienianiu. Średni czas między leczeniem radiacyjnym a diagnozą mięsaka wynosi około 10 lat.2829

Ekspozycja na związki chemiczne

Ekspozycja na niektóre substancje chemiczne jest również rozważana jako potencjalny czynnik ryzyka rozwoju mięsaka stawowego, choć związek przyczynowy nie został jednoznacznie potwierdzony.3031 Do substancji tych należą:

  • Chlorek winylu – stosowany w produkcji tworzyw sztucznych, uznany za czynnik ryzyka mięsaków wątroby3233
  • Dioksyny34
  • Arsen3536
  • Dwutlenek toru (Thorotrast) – substancja radioaktywna stosowana jako środek kontrastowy w latach 50. XX wieku37

Zespoły genetyczne zwiększające ryzyko

Niektóre rzadkie, dziedziczne zespoły genetyczne mogą zwiększać ryzyko rozwoju mięsaków tkanek miękkich, w tym mięsaka stawowego:3839

Należy jednak podkreślić, że same zespoły genetyczne nie są bezpośrednią przyczyną mięsaka stawowego, a jedynie czynnikiem zwiększającym ogólne ryzyko rozwoju mięsaków.47

Mechanizm rozwoju nowotworu

Mięsak stawowy, podobnie jak inne nowotwory, rozwija się w wyniku zmian w DNA komórek. W zdrowych komórkach DNA zawiera instrukcje dotyczące wzrostu, namnażania i obumierania komórek w określonym czasie. W komórkach nowotworowych zmiany w DNA prowadzą do nieprawidłowych instrukcji – komórki nowotworowe mnożą się szybciej i nie obumierają, gdy powinny, co prowadzi do nadmiernej liczby komórek.4849

Te nadmiernie namnażające się komórki tworzą masę zwaną guzem. Guz może rosnąć, naciekać i niszczyć zdrowe tkanki ciała. Z czasem komórki nowotworowe mogą odrywać się i rozprzestrzeniać do innych części ciała, co nazywamy przerzutami.50 Mięsak stawowy ma tendencję do powolnego wzrostu guza, ale jednocześnie charakteryzuje się skłonnością do inwazji okolicznych struktur i tworzenia przerzutów w 30-60% przypadków, czasami nawet po upływie 5 lat od początkowej diagnozy.51

Specyficzna rola translokacji t(X;18)

Translokacja t(X;18) i powstające w jej wyniku białko fuzyjne SS18-SSX odgrywają kluczową rolę w patogenezie mięsaka stawowego.52 Białko to powoduje zaburzenia epigenetyczne, które prowadzą do nieprawidłowej ekspresji genów i rozwoju nowotworu.53 Mechanizmy te obejmują:

Wykluczenie potencjalnych przyczyn

W badaniach nad etiologią mięsaka stawowego wykluczono kilka potencjalnych przyczyn:

Brak związku z urazami

Nie ma dowodów na to, że urazy czy kontuzje mogą powodować rozwój mięsaka stawowego.5859 Chociaż pacjenci często wiążą pojawienie się guza z wcześniejszym urazem, badania nie potwierdzają takiego związku przyczynowego. Urazy mogą jedynie zwrócić uwagę medyczną na wcześniej istniejącą zmianę.6061

Brak związku z infekcjami wirusowymi

W przeciwieństwie do niektórych innych typów mięsaków, takich jak mięsak Kaposiego (związany z ludzkim wirusem opryszczki typu 8), nie wykazano związku między infekcjami wirusowymi a rozwojem mięsaka stawowego.62 Badania nie potwierdziły udziału wirusów onkogennych w patogenezie mięsaka stawowego.63

Brak związku ze stylem życia

Nie ma dowodów na związek między rozwojem mięsaka stawowego a paleniem tytoniu, dietą czy poziomem aktywności fizycznej.64 Czynniki związane ze stylem życia nie są uważane za istotne w etiologii tego nowotworu.

Podsumowanie etiologii mięsaka stawowego

Dokładna przyczyna rozwoju mięsaka stawowego pozostaje nieznana, ale badania jednoznacznie wskazują na kluczową rolę specyficznej translokacji chromosomowej t(X;18) prowadzącej do powstania genu fuzyjnego SS18-SSX.6566 Ta zmiana genetyczna jest obecna w ponad 90% przypadków mięsaka stawowego i jest uważana za główny czynnik patogenetyczny.

Mięsak stawowy nie jest chorobą dziedziczną, a translokacja chromosomowa występuje somatycznie, co oznacza, że rozwija się w trakcie życia jednostki z nieznanych przyczyn.6768 Potencjalne czynniki ryzyka, takie jak wcześniejsza ekspozycja na promieniowanie jonizujące czy niektóre substancje chemiczne, mogą odgrywać rolę w rozwoju tego nowotworu, jednak dokładne mechanizmy ich działania wymagają dalszych badań.6970

Zrozumienie mechanizmów molekularnych leżących u podłoża mięsaka stawowego jest niezbędne do opracowania skuteczniejszych metod diagnostycznych i terapeutycznych, a badania nad rolą białka fuzyjnego SS18-SSX w rozwoju tego nowotworu stanowią obiecujący kierunek przyszłych prac badawczych.7172

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Mayo Clinic Health Library – Synovial sarcoma | Swiss Medical Network
    https://www.swissmedical.net/en/healtcare-library/con-20129022
    It’s not clear what causes synovial sarcoma. […] This kind of cancer forms when cells develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to make many more cells quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells. […] The cancer cells might form a mass called a tumor. The tumor can grow to invade and destroy healthy body tissue. In time, cancer cells can break away and spread to other parts of the body. When cancer spreads, it’s called metastatic cancer.
  • #2 Synovial Sarcoma: Symptoms, Treatment & Prognosis
    https://my.clevelandclinic.org/health/diseases/22012-synovial-sarcoma
    Synovial sarcoma is a rare type of cancer that affects soft tissues, like your muscles or ligaments. Its called synovial sarcoma because these cancer cells resemble the cells in your synovial joints (like your elbows, hips and shoulders). […] Researchers arent sure what causes synovial sarcoma. But they know it has something to do with mutations (changes) in your chromosomes. Synovial sarcoma cells always have one mutated gene in common. Sometimes, your chromosomes break into pieces. The pieces rejoin, but not in the same order or sequence. […] In synovial sarcoma, a gene called SYT jams up against genes that arent the right fit. When this happens, your cells dont work as they should, and your body develops a mutant gene that causes synovial cell sarcoma. […] You cant prevent synovial sarcoma because you cant control the chromosomal changes that cause it.
  • #3 Synovial sarcoma – Wikipedia
    https://en.wikipedia.org/wiki/Synovial_sarcoma
    A synovial sarcoma (also known as malignant synovioma) is a rare form of cancer which occurs primarily in the extremities of the arms or legs, often in proximity to joint capsules and tendon sheaths. […] The name „synovial sarcoma” was coined early in the 20th century, as some researchers thought that the microscopic similarity of some tumors to synovium, and its propensity to arise adjacent to joints, indicated a synovial origin; however, the actual cells from which the tumor develops are unknown and not necessarily synovial. […] Most, and perhaps all, cases of synovial sarcoma are associated with a reciprocal translocation t(x;18)(p11.2;q11.2). […] This translocation event between the SS18 gene on chromosome 18 and one of 3 SSX genes (SSX1, SSX2 and SSX4) on chromosome X causes the presence of an SS18-SSX fusion gene. […] SS18-SSX is thought to underlie synovial sarcoma pathogenesis through dysregulation of gene expression.
  • #4
    https://www.orthobullets.com/pathology/8052/synovial-sarcoma
    Synovial Sarcoma is a malignant, soft tissue sarcoma caused by a t(X;18) chromosomal translocation mutation (SS18:SSX fusion protein) most commonly found near joints but rarely within the joint. […] synovial sarcoma is a misnomer due to the tumor’s microscopic resemblance to mature synovium. […] cellular origin of synovial sarcoma is unknown. […] chromosomal translocation t(X;18) is observed in more than 90% of cases. […] translocation forms the SYT-SSX1, 2, or 4 fusion protein. […] fusion proteins bind to BAF complex, which displaces the tumor suppressor BAF47. […] new BAF complex activates Sox2, which leads to tumor formation.
  • #5 Synovial Sarcoma | Thoracic Oncology Program
    https://top.ucsf.edu/condition/synovial-sarcoma
    The name „synovial sarcoma” was coined early in the 20th century, as some researchers thought that the microscopic similarity of some tumors to synovium, and its propensity to arise adjacent to joints, indicated a synovial origin; however, the actual cells from which the tumor develops are unknown and not necessarily synovial. […] There are no well-established risk factors for synovial sarcoma. There appears to be a genetic component to the disease, which is associated with the chromosomal translocation t(X;18) (p11;q11). This means that in synovial sarcoma tumor cells parts of chromosome 18 and chromosome X have switched places. It is not unknown whether this mutation occurs sporadically (randomly) or follows a specific chain of events. Because of this translocation, synovial sarcoma cells harbor a mutant gene, which thought to contribute to its development.
  • #6 Sinonasal Synovial Sarcoma Masquerading as A Common Soft Tissue Tumor: A Diagnostic Challenge and Literature Review
    https://jmsh.ac.in/articles/sinonasal-synovial-sarcoma-masquerading-as-a-common-soft-tissue-tumor-a-diagnostic-challenge-and-literature-review
    Synovial sarcoma is a malignant soft tissue neoplasm which amounts to 7-10% of all sarcomas. […] Synovial sarcoma is an aggressive high-grade sarcoma which amounts to 7-10% of all sarcomas. […] Synovial sarcoma is a misnomer as the tumor does not arise from synovial tissue but instead has its origin from the pluripotent mesenchymal cells which variably can display epithelial differentiation. […] According to a review done by Saito et al in 2018, sinonasal synovial sarcoma is an extremely rare tumor, with only 11 cases being reported till date. […] The recent novel marker identified for synovial sarcoma is Transducin-like enhancer of split 1 (TLE1) which is a repressor of transcription and is important for hemopoiesis, neuronal and terminal epithelial differentiation. […] S100 expression in synovial sarcoma is seen in up to 30% of cases. […] A combination of negative staining to SOX10 and positivity to TLE1 helps in providing a strong support for the diagnosis of synovial sarcoma and thereby ruling out the possibility of a cellular schwannoma.
  • #7 Synovial Cell Sarcoma – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK587366/
    Synovial sarcoma is defined by the translocation between chromosome X and 18, which leads to the expression of SS18:SSX fusion proteins. […] The translocation between the SS18 gene on chromosome 18 and one of the several synovial sarcoma X (SSX) genes on chromosome X is reported in more than 90% of patients. There are no environmental or inheritable factors associated with synovial sarcoma. Radiation-induced synovial sarcoma is an extremely rare entity but has been described in the literature.
  • #8 Synovial Sarcoma: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1257131-overview
    Synovial sarcoma is characterized by a specific chromosomal translocation, t(X;18)(p11;q11). This defect appears to be the underlying cause of the tumor. This specific chromosomal translocation between chromosome X and chromosome 18 has been noted in more than 90% of cases. This fusion gene is called, in genetic terms, the SYT-SSX1, SYT-SSX2, or SYT-SSX4. These terms correspond to a fusion of the SYT gene (chromosome 18) with the SSX gene (chromosome X). […] To our knowledge, the origin of this translocation has not been identified.
  • #9
    https://www.orthobullets.com/pathology/8052/synovial-sarcoma
    Synovial Sarcoma is a malignant, soft tissue sarcoma caused by a t(X;18) chromosomal translocation mutation (SS18:SSX fusion protein) most commonly found near joints but rarely within the joint. […] synovial sarcoma is a misnomer due to the tumor’s microscopic resemblance to mature synovium. […] cellular origin of synovial sarcoma is unknown. […] chromosomal translocation t(X;18) is observed in more than 90% of cases. […] translocation forms the SYT-SSX1, 2, or 4 fusion protein. […] fusion proteins bind to BAF complex, which displaces the tumor suppressor BAF47. […] new BAF complex activates Sox2, which leads to tumor formation.
  • #10 Synovial sarcoma – Wikipedia
    https://en.wikipedia.org/wiki/Synovial_sarcoma
    A synovial sarcoma (also known as malignant synovioma) is a rare form of cancer which occurs primarily in the extremities of the arms or legs, often in proximity to joint capsules and tendon sheaths. […] The name „synovial sarcoma” was coined early in the 20th century, as some researchers thought that the microscopic similarity of some tumors to synovium, and its propensity to arise adjacent to joints, indicated a synovial origin; however, the actual cells from which the tumor develops are unknown and not necessarily synovial. […] Most, and perhaps all, cases of synovial sarcoma are associated with a reciprocal translocation t(x;18)(p11.2;q11.2). […] This translocation event between the SS18 gene on chromosome 18 and one of 3 SSX genes (SSX1, SSX2 and SSX4) on chromosome X causes the presence of an SS18-SSX fusion gene. […] SS18-SSX is thought to underlie synovial sarcoma pathogenesis through dysregulation of gene expression.
  • #11
    https://link.springer.com/article/10.1245/s10434-017-5855-x
    Synovial sarcoma is a translocation-associated soft-tissue malignancy that frequently affects adolescents and young adults. It is driven by one of the fusion oncoproteins SS18-SSX1, SS18-SSX2, or rarely, SS18-SSX4. […] The clinical implication of SS18-SSX fusion gene in synovial sarcoma. […] Metastatic potential is determined early in synovial sarcoma development and reflected by tumor molecular features. […] The SYT-SSX fusion protein and histological epithelial differentiation in synovial sarcoma: relationship with extracellular matrix remodeling. […] The synovial-sarcoma-associated SS18-SSX2 fusion protein induces epigenetic gene (de)regulation. […] IGF2 is critical for tumorigenesis by synovial sarcoma oncoprotein SYT-SSX1. […] The synovial sarcoma SYT-SSX2 oncogene remodels the cytoskeleton through activation of the ephrin pathway.
  • #12 Synovial Sarcoma – NCI
    https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/synovial-sarcoma
    Synovial sarcoma is a cancer that can come from different types of soft tissue, such as muscle or ligaments. […] Scientists are always working to understand how cancer forms, but it can be hard to prove. We know that in synovial sarcoma, chromosomes (the structures in your cells that contain all of your genes) break apart and get put back together in the wrong way. This can cause cells to not function like they should. In synovial sarcoma, a gene called SYT is joined to SSX genes. Doctors will look for this change in chromosomes to confirm that it is synovial sarcoma.
  • #13
    https://www.orthobullets.com/pathology/8052/synovial-sarcoma
    Synovial Sarcoma is a malignant, soft tissue sarcoma caused by a t(X;18) chromosomal translocation mutation (SS18:SSX fusion protein) most commonly found near joints but rarely within the joint. […] synovial sarcoma is a misnomer due to the tumor’s microscopic resemblance to mature synovium. […] cellular origin of synovial sarcoma is unknown. […] chromosomal translocation t(X;18) is observed in more than 90% of cases. […] translocation forms the SYT-SSX1, 2, or 4 fusion protein. […] fusion proteins bind to BAF complex, which displaces the tumor suppressor BAF47. […] new BAF complex activates Sox2, which leads to tumor formation.
  • #14
    https://www.orthobullets.com/pathology/8052/synovial-sarcoma
    Synovial Sarcoma is a malignant, soft tissue sarcoma caused by a t(X;18) chromosomal translocation mutation (SS18:SSX fusion protein) most commonly found near joints but rarely within the joint. […] synovial sarcoma is a misnomer due to the tumor’s microscopic resemblance to mature synovium. […] cellular origin of synovial sarcoma is unknown. […] chromosomal translocation t(X;18) is observed in more than 90% of cases. […] translocation forms the SYT-SSX1, 2, or 4 fusion protein. […] fusion proteins bind to BAF complex, which displaces the tumor suppressor BAF47. […] new BAF complex activates Sox2, which leads to tumor formation.
  • #15
    https://link.springer.com/article/10.1245/s10434-017-5855-x
    Saito T, Oda Y, Kawaguchi K, et al. PTEN and other tumor suppressor gene mutations as secondary genetic alterations in synovial sarcoma. […] The biology behind mTOR inhibition in sarcoma. […] SS18 together with animal-specific factors defines human BAF-type SWI/SNF complexes. […] Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. […] The proto-oncoprotein SYT interacts with SYT-interacting protein/co-activator activator (SIP/CoAA), a human nuclear receptor co-activator with similarity to EWS and TLS/FUS family of proteins. […] The activation status of the Akt/mTOR pathway in synovial sarcoma. […] The classic prognostic factors tumor stage, tumor size, and tumor grade are the strongest predictors of outcome in synovial sarcoma: no role for SSX fusion type or ezrin expression.
  • #16 Synovial Sarcoma: Treatment, Symptoms, and Causes
    https://www.healthline.com/health/synovial-sarcoma
    The exact cause of synovial sarcoma isnt clear. But there is a genetic link. In fact, more than 90 percent of cases involve a particular genetic change in which parts of chromosome X and chromosome 18 switch places. What prompts this change is unknown. […] This isnt a germinal mutation, which is a mutation that can be passed from one generation to another. Its a somatic mutation, which means that its not hereditary. […] Some potential risk factors may include: having certain inherited conditions such as Li-Fraumeni syndrome or neurofibromatosis type 1, exposure to radiation, exposure to chemical carcinogens.
  • #17 Synovial Sarcoma: Causes, Symptoms And Treatment
    https://www.netmeds.com/health-library/post/synovial-sarcoma-causes-symptoms-and-treatment?srsltid=AfmBOoo6eRRXsc6Ss6WZtLLWpjZtkIgMb3-kxeZBhDcbt7yax2LLwP2u
    While the immediate cause of synovial sarcoma isnt clear, just like other forms of cancer. But several scientific studies reveal that there is a genetic connection behind this form of soft tissue cancer. In reality, in more than 90 per cent of cases, Synovial sarcoma comprises a particular mutation in the genes in which parts of chromosome 18 and chromosome X switch places. But the true causative factor behind this abrupt mutation is still unknown. The genetic changes in the DNA of the healthy cells cause them to abnormally increase in number and size without perishing on time and eventually amassing to form humorous growth. […] Synovial sarcoma doesnt arise due to germinal mutation (a type of genetic change that can be passed from one generation to another), rather it is a somatic mutation (which means that the genetic change is not hereditary.)
  • #18 Synovial Sarcoma – Symptoms, Causes, Diagnosis, Treatment
    http://www.webmd.com/cancer/synovial-sarcoma-overview%231/
    Doctors dont know what causes synovial sarcomas. But they do know about things that may make a person more likely to get it. For instance, it may be more likely if certain rare diseases run in your family. […] You may also be more likely to get a synovial sarcoma if youve: […] Synovial sarcomas are made up of cells with genes that have errors (mutations) in them. These gene glitches dont get passed down through families. Instead, they form over time for unknown reasons. The gene errors for synovial sarcomas often happen when certain chromosomes break and the pieces latch onto other chromosomes.
  • #19 Synovial Sarcoma: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1257131-overview
    Synovial sarcoma is characterized by a specific chromosomal translocation, t(X;18)(p11;q11). This defect appears to be the underlying cause of the tumor. This specific chromosomal translocation between chromosome X and chromosome 18 has been noted in more than 90% of cases. This fusion gene is called, in genetic terms, the SYT-SSX1, SYT-SSX2, or SYT-SSX4. These terms correspond to a fusion of the SYT gene (chromosome 18) with the SSX gene (chromosome X). […] To our knowledge, the origin of this translocation has not been identified.
  • #20 Synovial Sarcoma: Treatment, Symptoms, and Causes
    https://www.healthline.com/health/synovial-sarcoma
    The exact cause of synovial sarcoma isnt clear. But there is a genetic link. In fact, more than 90 percent of cases involve a particular genetic change in which parts of chromosome X and chromosome 18 switch places. What prompts this change is unknown. […] This isnt a germinal mutation, which is a mutation that can be passed from one generation to another. Its a somatic mutation, which means that its not hereditary. […] Some potential risk factors may include: having certain inherited conditions such as Li-Fraumeni syndrome or neurofibromatosis type 1, exposure to radiation, exposure to chemical carcinogens.
  • #21 Synovial sarcoma: advances in molecular understanding
    https://www.oncology-central.com/what-is-the-molecular-cause-of-synovial-sarcoma/
    Researchers have discovered how an abnormal protein disrupts and misdirects the control of gene expression in cells that contribute to the malignant growth of synovial sarcoma tumors. […] The study suggests that the protein causes the abnormal activation of genes that are normally repressed, which contributes to the malignant growth of synovial sarcoma tumors.
  • #22
    https://link.springer.com/article/10.1245/s10434-017-5855-x
    Synovial sarcoma is a translocation-associated soft-tissue malignancy that frequently affects adolescents and young adults. It is driven by one of the fusion oncoproteins SS18-SSX1, SS18-SSX2, or rarely, SS18-SSX4. […] The clinical implication of SS18-SSX fusion gene in synovial sarcoma. […] Metastatic potential is determined early in synovial sarcoma development and reflected by tumor molecular features. […] The SYT-SSX fusion protein and histological epithelial differentiation in synovial sarcoma: relationship with extracellular matrix remodeling. […] The synovial-sarcoma-associated SS18-SSX2 fusion protein induces epigenetic gene (de)regulation. […] IGF2 is critical for tumorigenesis by synovial sarcoma oncoprotein SYT-SSX1. […] The synovial sarcoma SYT-SSX2 oncogene remodels the cytoskeleton through activation of the ephrin pathway.
  • #23 Synovial Sarcoma: Treatment, Symptoms, and Causes
    https://www.healthline.com/health/synovial-sarcoma
    The exact cause of synovial sarcoma isnt clear. But there is a genetic link. In fact, more than 90 percent of cases involve a particular genetic change in which parts of chromosome X and chromosome 18 switch places. What prompts this change is unknown. […] This isnt a germinal mutation, which is a mutation that can be passed from one generation to another. Its a somatic mutation, which means that its not hereditary. […] Some potential risk factors may include: having certain inherited conditions such as Li-Fraumeni syndrome or neurofibromatosis type 1, exposure to radiation, exposure to chemical carcinogens.
  • #24 Synovial Sarcoma – SFA
    https://curesarcoma.org/sarcoma-subtypes/synovial-sarcoma/
    There are no known predisposing factors. Exceptionally, SS is associated with a history of previous radiotherapy. SS bears a unique chromosomal translocation that results in the formation of an oncogenic SS18-SSX1/2/4 fusion gene. Otherwise, SSs have a very low mutation burden relative to other sarcomas.
  • #25 Synovial Cell Sarcoma – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK587366/
    Synovial sarcoma is defined by the translocation between chromosome X and 18, which leads to the expression of SS18:SSX fusion proteins. […] The translocation between the SS18 gene on chromosome 18 and one of the several synovial sarcoma X (SSX) genes on chromosome X is reported in more than 90% of patients. There are no environmental or inheritable factors associated with synovial sarcoma. Radiation-induced synovial sarcoma is an extremely rare entity but has been described in the literature.
  • #26 Synovial Cell Sarcoma | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/140565
    The translocation between the SS18 gene on chromosome 18 and one of the several synovial sarcoma X (SSX) genes on chromosome X is reported in more than 90% of patients. […] There are no environmental or inheritable factors associated with synovial sarcoma. […] Radiation-induced synovial sarcoma is an extremely rare entity but has been described in the literature.
  • #27 Risk Factors for Soft Tissue Sarcomas | American Cancer Society
    https://www.cancer.org/cancer/types/soft-tissue-sarcoma/causes-risks-prevention/risk-factors.html
    Radiation exposure accounts for less than 5% of sarcomas. But patients might develop sarcomas from radiation given to treat other cancers, like breast cancer or lymphoma. The sarcoma often starts in the part of the body that was treated with radiation. The average time between the radiation treatments and the diagnosis of a sarcoma is about 10 years. […] Family cancer syndromes are disorders caused by gene defects (mutations) that people are born with (often inherited from a parent) that are linked to a high risk of getting certain cancers. Some family cancer syndromes increase a person’s risk of developing soft tissue sarcomas. […] About 5% of people with neurofibromatosis will develop a sarcoma in a neurofibroma. […] People affected by Li-Fraumeni syndrome have a high risk of cancer, such as breast cancer, brain tumors, leukemia, and sarcomas. Still, only 10 to 20 out of 100 people with Li-Fraumeni syndrome will develop a soft tissue sarcoma.
  • #28 Risk Factors for Soft Tissue Sarcomas | American Cancer Society
    https://www.cancer.org/cancer/types/soft-tissue-sarcoma/causes-risks-prevention/risk-factors.html
    Radiation exposure accounts for less than 5% of sarcomas. But patients might develop sarcomas from radiation given to treat other cancers, like breast cancer or lymphoma. The sarcoma often starts in the part of the body that was treated with radiation. The average time between the radiation treatments and the diagnosis of a sarcoma is about 10 years. […] Family cancer syndromes are disorders caused by gene defects (mutations) that people are born with (often inherited from a parent) that are linked to a high risk of getting certain cancers. Some family cancer syndromes increase a person’s risk of developing soft tissue sarcomas. […] About 5% of people with neurofibromatosis will develop a sarcoma in a neurofibroma. […] People affected by Li-Fraumeni syndrome have a high risk of cancer, such as breast cancer, brain tumors, leukemia, and sarcomas. Still, only 10 to 20 out of 100 people with Li-Fraumeni syndrome will develop a soft tissue sarcoma.
  • #29 Soft Tissue Sarcoma : Symptoms, Causes, Types, Diagnosis and Treatment | HCG
    https://www.hcgoncology.com/blog/soft-tissue-sarcoma/
    This condition is caused by the defective RECQL2 gene. People with Werner syndrome are at increased risk for developing certain cancers, including soft tissue sarcoma. […] People exposed to certain chemicals for a significant period are at increased risk of soft tissue sarcoma. The chemicals that increase the risk of soft tissue sarcoma include arsenic, herbicides, and dioxin. […] Although general exposure to radiation accounts for less than 5% of sarcomas, exposure to radiation therapy for treating other cancers increases the risk of developing sarcomas. After radiation therapy, if sarcoma recurs, it is often at the site of radiation exposure (lymph nodes or breasts). The average time gap between radiation therapy and sarcoma development is 8-10 years.
  • #30 Synovial Sarcoma: Treatment, Symptoms, and Causes
    https://www.healthline.com/health/synovial-sarcoma
    The exact cause of synovial sarcoma isnt clear. But there is a genetic link. In fact, more than 90 percent of cases involve a particular genetic change in which parts of chromosome X and chromosome 18 switch places. What prompts this change is unknown. […] This isnt a germinal mutation, which is a mutation that can be passed from one generation to another. Its a somatic mutation, which means that its not hereditary. […] Some potential risk factors may include: having certain inherited conditions such as Li-Fraumeni syndrome or neurofibromatosis type 1, exposure to radiation, exposure to chemical carcinogens.
  • #31 Synovial Sarcoma: Causes, Symptoms And Treatment
    https://www.netmeds.com/health-library/post/synovial-sarcoma-causes-symptoms-and-treatment?srsltid=AfmBOoo6eRRXsc6Ss6WZtLLWpjZtkIgMb3-kxeZBhDcbt7yax2LLwP2u
    Certain causative factors that increase the risk of Synovial sarcoma include: […] Diagnosed with certain inherited conditions such as Neurofibromatosis type 1 or Li-Fraumeni syndrome increases the incidence of Synovial sarcoma […] Getting exposed to radiation or undergoing treatment for other cancerous conditions increases the risk of Synovial sarcoma […] Coming close to chemical carcinogenic substances regularly such as vinyl chloride, thorium dioxide, or arsenic makes an individual more prone to this type of soft tissue sarcoma.
  • #32 Risk Factors for Soft Tissue Sarcomas | American Cancer Society
    https://www.cancer.org/cancer/types/soft-tissue-sarcoma/causes-risks-prevention/risk-factors.html
    Children with this gene defect also have a higher risk of developing bone or soft tissue sarcomas, especially if the retinoblastoma was treated with radiation. […] They also have an increased risk of cancer, including soft tissue sarcomas. […] Exposure to vinyl chloride (a chemical used in making plastics) is a risk factor for developing sarcomas of the liver, but it hasn’t been proven to cause soft tissue sarcomas.
  • #33 What Causes Soft Tissue Sarcoma & Is It Hereditary?
    https://www.cancercenter.com/cancer-types/soft-tissue-sarcoma/risk-factors
    While the exact cause of soft tissue sarcoma isnt known, this condition develops when cells located in the bodys soft tissues mutate, or change, causing them to divide and grow uncontrollably. […] Exposure to vinyl chloride and dioxin may increase the risk for developing soft tissue sarcomas. […] If the patient served in Vietnam, Thailand or the Korean Demilitarized Zone, it’s important to know that there is evidence that soft tissue sarcomas are linked to chemical exposure. […] On rare occasions, external radiation therapy to treat any form of cancer can lead to the development of soft tissue sarcoma later in life in the treated area. […] Other immune system disorders may also cause an increased risk of soft tissue sarcoma, including lupus, psoriasis or cancers such as chronic lymphocytic leukemia. […] Some rare, inherited genetic conditions are considered risk factors for soft tissue sarcoma. […] This syndrome, linked to mutations in the TP53 gene, causes a higher risk of cancer, particularly brain tumors, leukemia, breast cancer and sarcomas.
  • #34 What Causes Soft Tissue Sarcoma & Is It Hereditary?
    https://www.cancercenter.com/cancer-types/soft-tissue-sarcoma/risk-factors
    While the exact cause of soft tissue sarcoma isnt known, this condition develops when cells located in the bodys soft tissues mutate, or change, causing them to divide and grow uncontrollably. […] Exposure to vinyl chloride and dioxin may increase the risk for developing soft tissue sarcomas. […] If the patient served in Vietnam, Thailand or the Korean Demilitarized Zone, it’s important to know that there is evidence that soft tissue sarcomas are linked to chemical exposure. […] On rare occasions, external radiation therapy to treat any form of cancer can lead to the development of soft tissue sarcoma later in life in the treated area. […] Other immune system disorders may also cause an increased risk of soft tissue sarcoma, including lupus, psoriasis or cancers such as chronic lymphocytic leukemia. […] Some rare, inherited genetic conditions are considered risk factors for soft tissue sarcoma. […] This syndrome, linked to mutations in the TP53 gene, causes a higher risk of cancer, particularly brain tumors, leukemia, breast cancer and sarcomas.
  • #35 Synovial (soft tissue) sarcoma: What to know
    https://www.medicalnewstoday.com/articles/synovial-sarcoma
    Synovial sarcoma is a form of soft tissue cancer. […] Because synovial sarcoma is so rare, scientists still have much to learn about it. […] As a 2022 review explains, scientists remain unsure about the causes of soft tissue sarcomas. Several factors may contribute to this disease, including: genetic mutations, such as those in NF1, APC, and TP53 genes; exposure to radiation; exposure to carcinogens, such as arsenic and polyvinyl chloride. […] According to the NCI, around 1 in 3 synovial sarcomas occur in people under 30 years of age. […] However, synovial sarcoma is not hereditary. […] Since exposure to radiation and carcinogens can lead to this cancer, avoiding them may lower the risk of developing this condition.
  • #36 Synovial Sarcoma: Causes, Symptoms And Treatment
    https://www.netmeds.com/health-library/post/synovial-sarcoma-causes-symptoms-and-treatment?srsltid=AfmBOoo6eRRXsc6Ss6WZtLLWpjZtkIgMb3-kxeZBhDcbt7yax2LLwP2u
    Certain causative factors that increase the risk of Synovial sarcoma include: […] Diagnosed with certain inherited conditions such as Neurofibromatosis type 1 or Li-Fraumeni syndrome increases the incidence of Synovial sarcoma […] Getting exposed to radiation or undergoing treatment for other cancerous conditions increases the risk of Synovial sarcoma […] Coming close to chemical carcinogenic substances regularly such as vinyl chloride, thorium dioxide, or arsenic makes an individual more prone to this type of soft tissue sarcoma.
  • #37 Risk factors for soft tissue sarcoma | Canadian Cancer Society
    https://cancer.ca/en/cancer-information/cancer-types/soft-tissue-sarcoma/risks
    Lymphedema is a buildup of fluid in body tissues. Long-term, or chronic, lymphedema can cause lymphangiosarcoma (also called Stewart-Treves syndrome). This is a rare type of soft tissue sarcoma that develops in lymph vessels. […] The following viral infections increase your risk of developing soft tissue sarcoma. […] Vinyl chloride is used in the plastics industry to make polyvinyl chloride (PVC), which is used in many products. Coming into contact with vinyl chloride at work increases the risk of developing angiosarcoma of the liver, a type of soft tissue sarcoma. […] Thorium dioxide (Thorotrast) is a radioactive solution that was used as a contrast medium in the 1950s to improve x-ray images of the blood vessels and arteries, nasal passages and sinus cavities. Thorium dioxide was injected into a vein and it collected in the liver, spleen and bone marrow. People who were exposed to thorium dioxide have a greater risk of developing angiosarcoma of the liver, which is a type of soft tissue sarcoma. Higher doses of thorium dioxide increase the risk. The cancer may develop as many as 45 years after exposure. […] Significant evidence shows no link between soft tissue sarcoma and injury or trauma.
  • #38 Synovial Sarcoma – Symptoms, Causes, Diagnosis, Treatment
    http://www.webmd.com/cancer/synovial-sarcoma-overview%231/
    Doctors dont know what causes synovial sarcomas. But they do know about things that may make a person more likely to get it. For instance, it may be more likely if certain rare diseases run in your family. […] You may also be more likely to get a synovial sarcoma if youve: […] Synovial sarcomas are made up of cells with genes that have errors (mutations) in them. These gene glitches dont get passed down through families. Instead, they form over time for unknown reasons. The gene errors for synovial sarcomas often happen when certain chromosomes break and the pieces latch onto other chromosomes.
  • #39 Childhood Soft Tissue Sarcoma – NCI
    https://www.cancer.gov/types/soft-tissue-sarcoma/patient/child-soft-tissue-treatment-pdq
    Childhood soft tissue sarcoma is caused by certain changes to the way soft tissue cells function, especially how they grow and divide into new cells. Often, the exact cause of these changes is unknown. […] The risk of soft tissue sarcoma may be increased if your child has one of the following inherited disorders: Li-Fraumeni syndrome, RB1 gene changes, Werner syndrome, tuberous sclerosis, adenosine deaminase-deficient severe combined immunodeficiency. […] Another risk factor is past treatment with radiation therapy.
  • #40 Risk Factors for Soft Tissue Sarcomas | American Cancer Society
    https://www.cancer.org/cancer/types/soft-tissue-sarcoma/causes-risks-prevention/risk-factors.html
    Radiation exposure accounts for less than 5% of sarcomas. But patients might develop sarcomas from radiation given to treat other cancers, like breast cancer or lymphoma. The sarcoma often starts in the part of the body that was treated with radiation. The average time between the radiation treatments and the diagnosis of a sarcoma is about 10 years. […] Family cancer syndromes are disorders caused by gene defects (mutations) that people are born with (often inherited from a parent) that are linked to a high risk of getting certain cancers. Some family cancer syndromes increase a person’s risk of developing soft tissue sarcomas. […] About 5% of people with neurofibromatosis will develop a sarcoma in a neurofibroma. […] People affected by Li-Fraumeni syndrome have a high risk of cancer, such as breast cancer, brain tumors, leukemia, and sarcomas. Still, only 10 to 20 out of 100 people with Li-Fraumeni syndrome will develop a soft tissue sarcoma.
  • #41 What Causes Soft Tissue Sarcoma & Is It Hereditary?
    https://www.cancercenter.com/cancer-types/soft-tissue-sarcoma/risk-factors
    While the exact cause of soft tissue sarcoma isnt known, this condition develops when cells located in the bodys soft tissues mutate, or change, causing them to divide and grow uncontrollably. […] Exposure to vinyl chloride and dioxin may increase the risk for developing soft tissue sarcomas. […] If the patient served in Vietnam, Thailand or the Korean Demilitarized Zone, it’s important to know that there is evidence that soft tissue sarcomas are linked to chemical exposure. […] On rare occasions, external radiation therapy to treat any form of cancer can lead to the development of soft tissue sarcoma later in life in the treated area. […] Other immune system disorders may also cause an increased risk of soft tissue sarcoma, including lupus, psoriasis or cancers such as chronic lymphocytic leukemia. […] Some rare, inherited genetic conditions are considered risk factors for soft tissue sarcoma. […] This syndrome, linked to mutations in the TP53 gene, causes a higher risk of cancer, particularly brain tumors, leukemia, breast cancer and sarcomas.
  • #42 Risk Factors for Soft Tissue Sarcomas | American Cancer Society
    https://www.cancer.org/cancer/types/soft-tissue-sarcoma/causes-risks-prevention/risk-factors.html
    Radiation exposure accounts for less than 5% of sarcomas. But patients might develop sarcomas from radiation given to treat other cancers, like breast cancer or lymphoma. The sarcoma often starts in the part of the body that was treated with radiation. The average time between the radiation treatments and the diagnosis of a sarcoma is about 10 years. […] Family cancer syndromes are disorders caused by gene defects (mutations) that people are born with (often inherited from a parent) that are linked to a high risk of getting certain cancers. Some family cancer syndromes increase a person’s risk of developing soft tissue sarcomas. […] About 5% of people with neurofibromatosis will develop a sarcoma in a neurofibroma. […] People affected by Li-Fraumeni syndrome have a high risk of cancer, such as breast cancer, brain tumors, leukemia, and sarcomas. Still, only 10 to 20 out of 100 people with Li-Fraumeni syndrome will develop a soft tissue sarcoma.
  • #43 Soft Tissue Sarcoma : Symptoms, Causes, Types, Diagnosis and Treatment | HCG
    https://www.hcgoncology.com/blog/soft-tissue-sarcoma/
    Various risk factors have been identified as the potential causes of soft tissue sarcoma, and they include: […] Certain inherited genetic conditions or syndromes could be the possible causes of soft tissue sarcomas. […] This condition occurs due to a defective TP53 gene. Individuals with Li-Fraumeni syndrome have a higher risk of developing malignancies like brain tumors, leukemia, breast cancer, and sarcoma. […] It is also known as von Recklinghausen disease and is caused by mutations in the NF1 and NF2 genes. Approximately 5% of people with neurofibromatosis develop sarcomas. […] Gardner syndrome is caused by a defective APC gene. This condition is found to increase STS risk. […] It refers to the cancer of the eye in children and is caused by a mutation in the RB1 gene. People with retinoblastoma are at increased risk of developing sarcomas.
  • #44 Risk Factors for Soft Tissue Sarcomas | American Cancer Society
    https://www.cancer.org/cancer/types/soft-tissue-sarcoma/causes-risks-prevention/risk-factors.html
    Children with this gene defect also have a higher risk of developing bone or soft tissue sarcomas, especially if the retinoblastoma was treated with radiation. […] They also have an increased risk of cancer, including soft tissue sarcomas. […] Exposure to vinyl chloride (a chemical used in making plastics) is a risk factor for developing sarcomas of the liver, but it hasn’t been proven to cause soft tissue sarcomas.
  • #45 Soft Tissue Sarcoma : Symptoms, Causes, Types, Diagnosis and Treatment | HCG
    https://www.hcgoncology.com/blog/soft-tissue-sarcoma/
    Various risk factors have been identified as the potential causes of soft tissue sarcoma, and they include: […] Certain inherited genetic conditions or syndromes could be the possible causes of soft tissue sarcomas. […] This condition occurs due to a defective TP53 gene. Individuals with Li-Fraumeni syndrome have a higher risk of developing malignancies like brain tumors, leukemia, breast cancer, and sarcoma. […] It is also known as von Recklinghausen disease and is caused by mutations in the NF1 and NF2 genes. Approximately 5% of people with neurofibromatosis develop sarcomas. […] Gardner syndrome is caused by a defective APC gene. This condition is found to increase STS risk. […] It refers to the cancer of the eye in children and is caused by a mutation in the RB1 gene. People with retinoblastoma are at increased risk of developing sarcomas.
  • #46 Soft Tissue Sarcoma : Symptoms, Causes, Types, Diagnosis and Treatment | HCG
    https://www.hcgoncology.com/blog/soft-tissue-sarcoma/
    This condition is caused by the defective RECQL2 gene. People with Werner syndrome are at increased risk for developing certain cancers, including soft tissue sarcoma. […] People exposed to certain chemicals for a significant period are at increased risk of soft tissue sarcoma. The chemicals that increase the risk of soft tissue sarcoma include arsenic, herbicides, and dioxin. […] Although general exposure to radiation accounts for less than 5% of sarcomas, exposure to radiation therapy for treating other cancers increases the risk of developing sarcomas. After radiation therapy, if sarcoma recurs, it is often at the site of radiation exposure (lymph nodes or breasts). The average time gap between radiation therapy and sarcoma development is 8-10 years.
  • #47 Soft Tissue Sarcoma: Symptoms, Treatment & Prognosis
    https://my.clevelandclinic.org/health/diseases/21732-soft-tissue-sarcoma
    Researchers are still unraveling what causes soft tissue sarcomas. Theyve found some potential risk factors such as certain inherited disorders and activities. A risk factor is anything that increases the risk youll get sick. (Having a risk factor doesnt mean youll get sick. It means you could get sick.) […] Inherited disorders happen when people inherit genetic mutations (changes in their genes) that affect how their bodies work. Your provider may recommend genetic testing if your family members have certain inherited disorders. Inherited disorders that increase soft tissue sarcoma risk include: […] Other risk factors include: […] Having radiation therapy. […] Having lymphedema in your arms or legs thats lasted for a long time. […] Exposure to chemicals including thorium dioxide, arsenic or vinyl chloride. […] Having human immunodeficiency virus (HIV)/AIDS increases your risk of Kaposi sarcoma.
  • #48 Mayo Clinic Health Library – Synovial sarcoma | Swiss Medical Network
    https://www.swissmedical.net/en/healtcare-library/con-20129022
    It’s not clear what causes synovial sarcoma. […] This kind of cancer forms when cells develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to make many more cells quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells. […] The cancer cells might form a mass called a tumor. The tumor can grow to invade and destroy healthy body tissue. In time, cancer cells can break away and spread to other parts of the body. When cancer spreads, it’s called metastatic cancer.
  • #49 Synovial sarcoma | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/synovial-sarcoma?content_id=CON-20129022
    It’s not clear what causes synovial sarcoma. […] This kind of cancer forms when cells develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to make many more cells quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells.
  • #50 Mayo Clinic Health Library – Synovial sarcoma | Swiss Medical Network
    https://www.swissmedical.net/en/healtcare-library/con-20129022
    It’s not clear what causes synovial sarcoma. […] This kind of cancer forms when cells develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to make many more cells quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells. […] The cancer cells might form a mass called a tumor. The tumor can grow to invade and destroy healthy body tissue. In time, cancer cells can break away and spread to other parts of the body. When cancer spreads, it’s called metastatic cancer.
  • #51 Primary Intra-Articular Synovial Sarcoma of the Knee: A Report of Two Cases and Review of the Literature
    http://clinmedjournals.org/articles/ijrit/international-journal-of-radiology-and-imaging-technology-ijrit-4-031.php?jid=ijrit
    Synovial sarcoma is a misleading term initially coined in reference to its pathological appearance that mimics synovium in its early stage of development. In reality, Synovial Sarcoma (SS) is a rare malignant neoplasm, which accounts for only 2.5 – 10% of all soft-tissue sarcomas. Peak incidence of SS occurs in the third decade of life, and 30% of cases occur in children and adolescents younger than 20 years of age. […] Approximately 80% of primary SS arise in the extremities, most commonly in the para-articular regions, the knee being the most common site. However, true intra-articular origin is extremely rare, accounting for less than 5% of cases. […] From an oncological standpoint, SS is generally regarded as a high-grade sarcoma characterized by slow tumor growth, and a propensity to invade local structures. These tumors have a 30-60% incidence of metastases, which may sometimes develop more than 5 years after the initial diagnosis.
  • #52 Synovial sarcoma | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/synovial-sarcoma?lang=us
    Synovial sarcomas are relatively common intermediate-to-high grade malignant soft tissue tumors, often with an initial indolent course, affecting young patients and most commonly involving the soft tissue surrounding the knees. […] Cytogenetic aberration of the t(X;18) translocation is highly specific, seen in over 90% of cases. […] SS18-SSX fusion antibody is 95% sensitive and specific for synovial sarcoma.
  • #53
    https://link.springer.com/article/10.1245/s10434-017-5855-x
    Synovial sarcoma is a translocation-associated soft-tissue malignancy that frequently affects adolescents and young adults. It is driven by one of the fusion oncoproteins SS18-SSX1, SS18-SSX2, or rarely, SS18-SSX4. […] The clinical implication of SS18-SSX fusion gene in synovial sarcoma. […] Metastatic potential is determined early in synovial sarcoma development and reflected by tumor molecular features. […] The SYT-SSX fusion protein and histological epithelial differentiation in synovial sarcoma: relationship with extracellular matrix remodeling. […] The synovial-sarcoma-associated SS18-SSX2 fusion protein induces epigenetic gene (de)regulation. […] IGF2 is critical for tumorigenesis by synovial sarcoma oncoprotein SYT-SSX1. […] The synovial sarcoma SYT-SSX2 oncogene remodels the cytoskeleton through activation of the ephrin pathway.
  • #54
    https://link.springer.com/article/10.1245/s10434-017-5855-x
    Saito T, Oda Y, Kawaguchi K, et al. PTEN and other tumor suppressor gene mutations as secondary genetic alterations in synovial sarcoma. […] The biology behind mTOR inhibition in sarcoma. […] SS18 together with animal-specific factors defines human BAF-type SWI/SNF complexes. […] Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. […] The proto-oncoprotein SYT interacts with SYT-interacting protein/co-activator activator (SIP/CoAA), a human nuclear receptor co-activator with similarity to EWS and TLS/FUS family of proteins. […] The activation status of the Akt/mTOR pathway in synovial sarcoma. […] The classic prognostic factors tumor stage, tumor size, and tumor grade are the strongest predictors of outcome in synovial sarcoma: no role for SSX fusion type or ezrin expression.
  • #55
    https://link.springer.com/article/10.1245/s10434-017-5855-x
    Saito T, Oda Y, Kawaguchi K, et al. PTEN and other tumor suppressor gene mutations as secondary genetic alterations in synovial sarcoma. […] The biology behind mTOR inhibition in sarcoma. […] SS18 together with animal-specific factors defines human BAF-type SWI/SNF complexes. […] Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. […] The proto-oncoprotein SYT interacts with SYT-interacting protein/co-activator activator (SIP/CoAA), a human nuclear receptor co-activator with similarity to EWS and TLS/FUS family of proteins. […] The activation status of the Akt/mTOR pathway in synovial sarcoma. […] The classic prognostic factors tumor stage, tumor size, and tumor grade are the strongest predictors of outcome in synovial sarcoma: no role for SSX fusion type or ezrin expression.
  • #56
    https://link.springer.com/article/10.1245/s10434-017-5855-x
    Synovial sarcoma is a translocation-associated soft-tissue malignancy that frequently affects adolescents and young adults. It is driven by one of the fusion oncoproteins SS18-SSX1, SS18-SSX2, or rarely, SS18-SSX4. […] The clinical implication of SS18-SSX fusion gene in synovial sarcoma. […] Metastatic potential is determined early in synovial sarcoma development and reflected by tumor molecular features. […] The SYT-SSX fusion protein and histological epithelial differentiation in synovial sarcoma: relationship with extracellular matrix remodeling. […] The synovial-sarcoma-associated SS18-SSX2 fusion protein induces epigenetic gene (de)regulation. […] IGF2 is critical for tumorigenesis by synovial sarcoma oncoprotein SYT-SSX1. […] The synovial sarcoma SYT-SSX2 oncogene remodels the cytoskeleton through activation of the ephrin pathway.
  • #57
    https://link.springer.com/article/10.1245/s10434-017-5855-x
    Saito T, Oda Y, Kawaguchi K, et al. PTEN and other tumor suppressor gene mutations as secondary genetic alterations in synovial sarcoma. […] The biology behind mTOR inhibition in sarcoma. […] SS18 together with animal-specific factors defines human BAF-type SWI/SNF complexes. […] Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. […] The proto-oncoprotein SYT interacts with SYT-interacting protein/co-activator activator (SIP/CoAA), a human nuclear receptor co-activator with similarity to EWS and TLS/FUS family of proteins. […] The activation status of the Akt/mTOR pathway in synovial sarcoma. […] The classic prognostic factors tumor stage, tumor size, and tumor grade are the strongest predictors of outcome in synovial sarcoma: no role for SSX fusion type or ezrin expression.
  • #58 Benign and Malignant Soft-Tissue Tumors: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1253816-overview
    A classic example of an infection-induced soft-tissue tumor is Kaposi sarcoma resulting from human herpesvirus type 8 in patients with human immunodeficiency virus (HIV). Infection with Epstein-Barr virus in an immunocompromised host also increases the likelihood of soft-tissue tumor development. […] The relation between trauma and soft-tissue tumors appears to be coincidental. Trauma probably draws medical attention to a preexisting lesion.
  • #59 Soft tissue sarcomas | NHS inform
    https://www.nhsinform.scot/illnesses-and-conditions/cancer/cancer-types-in-teenagers-and-young-adults/soft-tissue-sarcomas-teenagers-and-young-adults/
    Its unknown what causes sarcomas in teenagers and young adults. […] People often think a knock or injury might have caused a sarcoma, but theres no evidence for this. […] Remember that nothing youve done has caused the cancer. […] Some rare conditions that run in families (known as genetic conditions) can increase the chance (risk) of getting a soft tissue sarcoma. […] People who had radiotherapy for another type of cancer when they were a child may have an increased risk of developing a sarcoma in later life this would be from their teens onwards. […] Synovial sarcomas usually develop near to but not inside joints, such as the knee or elbow. But they can develop anywhere in the body. They usually appear as hard lumps. […] This type of sarcoma is most likely to happen in the tissue around the joints, like your elbow, knee and ankle. It can also happen in other parts of your body, but that is less common. This type of sarcoma might not be obvious straight away because the lump grows slowly and is usually not sore.
  • #60 Benign and Malignant Soft-Tissue Tumors: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1253816-overview
    A classic example of an infection-induced soft-tissue tumor is Kaposi sarcoma resulting from human herpesvirus type 8 in patients with human immunodeficiency virus (HIV). Infection with Epstein-Barr virus in an immunocompromised host also increases the likelihood of soft-tissue tumor development. […] The relation between trauma and soft-tissue tumors appears to be coincidental. Trauma probably draws medical attention to a preexisting lesion.
  • #61 Risk factors for soft tissue sarcoma | Canadian Cancer Society
    https://cancer.ca/en/cancer-information/cancer-types/soft-tissue-sarcoma/risks
    Lymphedema is a buildup of fluid in body tissues. Long-term, or chronic, lymphedema can cause lymphangiosarcoma (also called Stewart-Treves syndrome). This is a rare type of soft tissue sarcoma that develops in lymph vessels. […] The following viral infections increase your risk of developing soft tissue sarcoma. […] Vinyl chloride is used in the plastics industry to make polyvinyl chloride (PVC), which is used in many products. Coming into contact with vinyl chloride at work increases the risk of developing angiosarcoma of the liver, a type of soft tissue sarcoma. […] Thorium dioxide (Thorotrast) is a radioactive solution that was used as a contrast medium in the 1950s to improve x-ray images of the blood vessels and arteries, nasal passages and sinus cavities. Thorium dioxide was injected into a vein and it collected in the liver, spleen and bone marrow. People who were exposed to thorium dioxide have a greater risk of developing angiosarcoma of the liver, which is a type of soft tissue sarcoma. Higher doses of thorium dioxide increase the risk. The cancer may develop as many as 45 years after exposure. […] Significant evidence shows no link between soft tissue sarcoma and injury or trauma.
  • #62 Do human tumor-associated viruses play a role in the development of synovial sarcoma? | Clinical Sarcoma Research | Full Text
    https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-015-0027-x
    To date, the pathomechanism of soft tissue sarcomas such as synovial sarcoma remains unclear whereas even a viral etiology was suspected. […] The etiology of pediatric soft tissue sarcomas such as synovial sarcoma remains unclear whereas even a viral cause was suspected. […] However, an involvement of these viruses in the pathogenesis of other soft tissue tumors such as synovial sarcoma has not been proven to our knowledge. […] We conclude that, although these viruses contribute to the oncogenesis of a considerable number of malignant tumors, an involvement in the pathogenesis of synovial sarcoma was not detected.
  • #63 Do human tumor-associated viruses play a role in the development of synovial sarcoma? | Clinical Sarcoma Research | Full Text
    https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-015-0027-x
    To date, the pathomechanism of soft tissue sarcomas such as synovial sarcoma remains unclear whereas even a viral etiology was suspected. […] The etiology of pediatric soft tissue sarcomas such as synovial sarcoma remains unclear whereas even a viral cause was suspected. […] However, an involvement of these viruses in the pathogenesis of other soft tissue tumors such as synovial sarcoma has not been proven to our knowledge. […] We conclude that, although these viruses contribute to the oncogenesis of a considerable number of malignant tumors, an involvement in the pathogenesis of synovial sarcoma was not detected.
  • #64 Sarcoma Cancer: Symptoms, Causes and Treatment
    https://www.healthhub.sg/a-z/diseases-and-conditions/sarcoma
    There are very few known risk factors for sarcomas. Some causes and risk factors may include: Past radiotherapy treatment Family history of cancer syndromes Damaged lymphatic system Some chemicals are also thought to be associated with sarcoma, though this has not been proven. […] Smoking, diet and exercise are not linked to developing sarcomas.
  • #65 Synovial Sarcoma | Causes, Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/s/synovial-sarcoma
    Experts do not know what causes synovial sarcoma to develop. However, one mutated gene is always present in patients who develop this disease. This mutated gene results when parts of chromosome 18 and chromosome X join abnormally. Researchers do not know why this occurs, but they do think that it is the main cause of this disease.
  • #66 Synovial sarcoma | Sarcoma UK
    https://sarcoma.org.uk/about-sarcoma/what-is-sarcoma/types-of-sarcoma/synovial-sarcoma/
    Synovial sarcoma is thought to be caused when certain chromosomes (the parts within cells that contain DNA) are broken apart and put back together in the wrong way. Researchers are still trying to find out why this happens and whether this causes synovial sarcoma.
  • #67 What Is Synovial Sarcoma?
    https://www.icliniq.com/articles/cancer/synovial-sarcoma
    Synovial sarcoma is a type of soft tissue sarcoma. […] The main or exact reason for the synovial sarcoma is yet to be known. But this sarcoma is linked to changes in individual genes. The mutations or modifications in the genes have become the reason for the development of this disease in the human body. When an SYT (synovial sarcoma translocation) gene is paired with a faulty gene (SSX gene), the body develops a modified gene, causing synovial sarcoma. […] Though synovial sarcoma is said to occur in patients with changed genes, it does not run in families. Genetic factors can show their effect in increasing the chance of the development of synovial sarcoma. It is not necessary that a parent suffering from synovial sarcoma will pass on the condition to their offspring.
  • #68 Synovial Sarcoma: Causes, Symptoms And Treatment
    https://www.netmeds.com/health-library/post/synovial-sarcoma-causes-symptoms-and-treatment?srsltid=AfmBOoo6eRRXsc6Ss6WZtLLWpjZtkIgMb3-kxeZBhDcbt7yax2LLwP2u
    While the immediate cause of synovial sarcoma isnt clear, just like other forms of cancer. But several scientific studies reveal that there is a genetic connection behind this form of soft tissue cancer. In reality, in more than 90 per cent of cases, Synovial sarcoma comprises a particular mutation in the genes in which parts of chromosome 18 and chromosome X switch places. But the true causative factor behind this abrupt mutation is still unknown. The genetic changes in the DNA of the healthy cells cause them to abnormally increase in number and size without perishing on time and eventually amassing to form humorous growth. […] Synovial sarcoma doesnt arise due to germinal mutation (a type of genetic change that can be passed from one generation to another), rather it is a somatic mutation (which means that the genetic change is not hereditary.)
  • #69 What Causes Soft Tissue Sarcomas? | American Cancer Society
    https://www.cancer.org/cancer/types/soft-tissue-sarcoma/causes-risks-prevention/what-causes.html
    Scientists don’t know exactly what causes most soft tissue sarcomas, but they have found some risk factors that can make a person more likely to develop these cancers. […] Many family cancer syndromes have been found in which inherited DNA mutations cause a very high risk of developing breast, colon, kidney, eye, or other cancers. Some of these syndromes are also linked to an increased risk of developing soft tissue sarcomas. […] DNA mutations in soft tissue sarcoma are common. But they’re usually acquired during life rather than having been inherited before birth. Acquired mutations may result from exposure to radiation or cancer-causing chemicals. In most sarcomas, they occur for no apparent reason. […] Researchers still don’t know why most soft tissue sarcomas develop in people who have no apparent risk factors.
  • #70 What Is Synovial Sarcoma? – Klarity Health Library
    https://my.klarity.health/what-is-synovial-sarcoma/
    Synovial sarcoma is a rare, soft tissue cancer that usually occurs in young to middle-aged people, mostly in limbs, although it can arise anywhere in the body. There is a specific genetic defect responsible for this cancer in most cases. […] No definitive cause has been identified for this cancer. A weak association is reported with previous radiation to the area. What is known is that there is a genetic translocation in about 90% of the cases. This means a swap of genetic material between two chromosomes, which are the units that carry all our genes. This translocation is known as SS18-SSX1. […] Since the causes are not established clearly, no definitive preventive measures can be identified.
  • #71 Activation of ERK1/2 Causes Pazopanib Resistance via Downregulation of DUSP6 in Synovial Sarcoma Cells | Scientific Reports
    https://www.nature.com/articles/srep45332
    Synovial sarcoma (SS) is a rare high-grade malignant mesenchymal tumour with a relatively poor prognosis despite intensive multimodal therapy. […] The mechanisms of acquired pazopanib resistance in SS have been minimally investigated and remain unclear, and it is important to elucidate the underlying mechanisms so as to define new therapeutic strategies for SS. […] Acquired pazopanib resistance in SS was associated with activation of ERK1/2 through downregulation of DUSP6 expression. […] These findings suggest that activation of ERK1/2 is sustained, at least in part, via downregulation of DUSP6 expression in pazopanib-resistant SS cells. […] Therefore, we conclude that prolonged exposure to pazopanib induces downregulation of DUSP6 by an unknown mechanism, and sustained phosphorylation of ERK1/2 promotes cell cycle progression and proliferation in SS cells.
  • #72
    https://link.springer.com/article/10.1245/s10434-017-5855-x
    Synovial sarcoma is a translocation-associated soft-tissue malignancy that frequently affects adolescents and young adults. It is driven by one of the fusion oncoproteins SS18-SSX1, SS18-SSX2, or rarely, SS18-SSX4. […] The clinical implication of SS18-SSX fusion gene in synovial sarcoma. […] Metastatic potential is determined early in synovial sarcoma development and reflected by tumor molecular features. […] The SYT-SSX fusion protein and histological epithelial differentiation in synovial sarcoma: relationship with extracellular matrix remodeling. […] The synovial-sarcoma-associated SS18-SSX2 fusion protein induces epigenetic gene (de)regulation. […] IGF2 is critical for tumorigenesis by synovial sarcoma oncoprotein SYT-SSX1. […] The synovial sarcoma SYT-SSX2 oncogene remodels the cytoskeleton through activation of the ephrin pathway.