Materiały źródłowe

• #1 Ewing sarcoma – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ewing-sarcoma/symptoms-causes/syc-20351071

  Ewing sarcoma happens when cells develop changes in their DNA. […] In Ewing sarcoma, the DNA changes most often affect a gene called EWSR1. […] It is not clear what causes Ewing sarcoma.

• #2 Ewing Tumor – Causes | American Cancer Society

  https://www.cancer.org/cancer/types/ewing-tumor/causes-risks-prevention/what-causes.html

  The causes of Ewing tumors (Ewing sarcomas) are not fully understood, but researchers are learning how certain changes in a cells DNA can cause the cell to become cancerous. […] Cancers can be caused by changes in the cells DNA that turn keep oncogenes turned on, or that turn off tumor suppressor genes. […] Researchers have found chromosome changes that lead to Ewing tumors, but these changes are not inherited. Instead, they develop in a single cell after a child is born, for unknown reasons. […] Nearly all Ewing tumor cells have changes that involve the EWSR1 gene, which is found on chromosome 22. […] The translocation moves a certain piece of chromosome 11 (or another chromosome) just next to the EWSR1 gene on chromosome 22, causing the EWSR1 gene to be turned on all the time. […] Activation of the EWSR1 gene leads to overgrowth of the cells and to the development of Ewing tumors, but the exact way in which this happens is not yet clear.

• #3 Ewing’s Sarcoma: Symptoms, Causes, Diagnosis, Treatment, Prognosis

  https://www.webmd.com/cancer/ewings-sarcoma

  Doctors don’t know what causes Ewing’s sarcoma. It doesn’t run in families, and its not caused by anything related to diet, lifestyle, or environment. […] Research shows that changes in a cell’s DNA that happen after your child’s birth most likely lead to Ewings sarcoma. Scientists still don’t understand why that happens.

• #4 Ewing Sarcoma: Practice Essentials, Etiology, Epidemiology

  https://emedicine.medscape.com/article/990378-overview

  Ewing sarcomas are thought to derive from cells of the neural crest, possibly mesenchymal stem cells, via a pathway that might include postganglionic cholinergic neurons. However, the exact cell of origin of the Ewing sarcomas is unknown. […] Translocation of EWSR1 (Ewing sarcoma breakpoint region 1) with an ETS (E26 transformation-specific) transcription factor gene occurs in more than 95% of Ewing sarcomas. (Some argue that without a translocation, the tumor does not belong to Ewing sarcoma). The most common translocation seen in about 85% of all Ewing tumors is the t(11;22) translocation. This translocation joins the Ewing sarcoma gene EWS on chromosome 22 to a gene of the ETS family, friend leukemia insertion (FLI1), on chromosome 11 (ie, t[11;22]). Alternative translocations include EWS-ERG t(21;22), EWS-ETV t(7;22), and EWS-FEV t(2;22), all of which involve the ETS family protein. Approximately 4% of Ewing sarcomas have been identified as having an intrachromosomal X-fusion leading to BCOR (encoding the BCL6co-repressor) and CCNB3 (encoding the testis-specific cyclin B3).

• #5 Ewing sarcoma: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/ewing-sarcoma/

  Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. […] The most common mutation that causes Ewing sarcoma involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. A rearrangement (translocation) of genetic material between chromosomes 22 and 11, written as t(11;22), fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. This mutation is acquired during a person’s lifetime and is present only in tumor cells. This type of genetic change, called a somatic mutation, is not inherited. […] The EWSR1/FLI1 fusion gene occurs in approximately 85 percent of Ewing sarcomas. Translocations that fuse the EWSR1 gene with other genes that are related to the FLI1 gene can also cause these types of tumors, although these alternative translocations are relatively uncommon. The fusion proteins produced from the less common gene translocations have the same function as the EWS/FLI protein. […] This condition is generally not inherited but arises from a mutation in the body’s cells that occurs after conception. This alteration is called a somatic mutation.

• #6 Ewing Sarcoma | Texas Children’s

  https://www.texaschildrens.org/content/conditions/ewing-sarcoma

  In most cases, the change involved the fusing of genetic material between chromosomes #11 and #22. When a certain piece of chromosome #11 is placed next to the EWS gene on chromosome #22, the EWS gene gets „switched on.” This activation leads to an overgrowth of the cells and eventually the development of cancer. Less often, there is an exchange of DNA between chromosome #22 and another chromosome that leads to the EWS gene being turned on. The exact mechanism remains unclear, but this important discovery has led to improvements in diagnosing Ewing sarcoma.

• #7 Ewing’s Sarcoma – OrthoInfo – AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/ewings-sarcoma/

  Ewing’s sarcoma is a cancerous (malignant) tumor that usually begins growing in a bone. It occurs primarily in children and young adults, often appearing during the teen years. […] There is no known cause of Ewing’s sarcoma. […] What is known is that the cancer forms when changes occur in a cell’s chromosomes. In Ewing’s sarcoma cells, the genetic material in chromosomes #11 and #22 is mismatched. This genetic abnormality is not inherited from a child’s parents; the chromosomal changes occur after a child is born. […] It is not understood why this abnormality occurs. Doctors have not identified any risk factors that make one child more susceptible than another. The tumor does not develop as a result of any dietary, social, or behavioral habits. There are no known ways to prevent the disease, and parents should know that there is nothing they could have done differently to prevent their child’s tumor.

• #8 Ewing Sarcoma – SFA

  https://curesarcoma.org/sarcoma-subtypes/ewing-sarcoma/

  Genetic confirmation is often required for Ewing sarcoma diagnosis. The most common Ewing sarcoma translocation (present in ~85% of cases) is t(11;22)(q24;q12), which results in the EWSR1-FLI1 fusion transcript and protein. The second most common is t(21;22)(q22;q12), which results in EWSR1-ERG in about 10% of cases. The remaining cases have alternative translocations that join either EWSR1 or FUS (which, along with TAF15, form the FET family) to other ETS family members. All cases of Ewing sarcoma harbor a FET-ETS fusion.

• #8 Ewing Sarcoma – SFA

  https://curesarcoma.org/sarcoma-subtypes/ewing-sarcoma/

  Ewing sarcoma is a small round cell sarcoma showing gene fusions involving one member of the FET family of genes (usually EWSR1) and a member of the ETS family of transcription factors. […] Ewing sarcoma is a malignant small round cell tumor characterized by specific genetic fusions, primarily affecting bones and soft tissues in young individuals. […] Ewing sarcoma arises in the diaphysis and diaphyseal-metaphyseal portions of long bones, pelvis, and ribs, although any bone can be affected. Extraskeletal Ewing sarcoma occurs in about 12% of patients and has a wide anatomical distribution. […] The majority of cases are sporadic, but germline mutations have been detected. […] All cases of Ewing sarcoma are associated with structural rearrangements that generate FET-ETS fusion genes. […] The presence of metastases appears to be the main prognostic factor. Other negative prognostic factors include the anatomical location of the tumor, such as the pelvis.

• #9 Ewing Sarcoma: Symptoms , Causes, Stages, Diagnosis and Treatment – OncoDaily

  https://oncodaily.com/oncolibrary/cancer-types/ewing-sarcoma-treatment

  Ewing sarcoma development is closely linked to specific genetic mutations, with additional environmental and genetic factors potentially influencing risk. […] The hallmark of Ewing sarcoma is a chromosomal translocation between chromosomes 11 and 22, denoted as t(11;22). This translocation fuses the EWSR1 gene on chromosome 22 with the FLI1 gene on chromosome 11, resulting in the EWSR1-FLI1 fusion gene. The protein produced by this fusion gene acts as an aberrant transcription factor, promoting uncontrolled cell growth and tumor development. Less commonly, EWSR1 may fuse with other ETS family genes, such as ERG, leading to similar oncogenic effects. […] While the exact cause of Ewing sarcoma remains unclear, certain genetic and environmental factors have been associated with its development:

• #9 Ewing Sarcoma: Symptoms , Causes, Stages, Diagnosis and Treatment – OncoDaily

  https://oncodaily.com/oncolibrary/cancer-types/ewing-sarcoma-treatment

  According to a 2023 study led by Dr. Riaz Gillani and colleagues at Dana-Farber Cancer Institute, inherited variations in certain DNA damage repair genes may increase an individual’s susceptibility to Ewing sarcoma, suggesting a genetic predisposition in some individuals. […] According to a 2023 population-based study in California by Joseph L. Wiemels and colleagues, higher birth weights are associated with an increased risk of Ewing sarcoma. […] Unlike some other cancers, Ewing sarcoma has not been strongly linked to environmental factors such as radiation or chemical exposures. The absence of such associations suggests that environmental influences play a minimal role in its development. […] Ewing sarcoma typically occurs sporadically, with no strong evidence indicating familial clustering.

• #10 Ewing Sarcoma—Diagnosis, Treatment, Clinical Challenges and Future Perspectives

  https://www.mdpi.com/2077-0383/10/8/1685

  Ewing sarcoma, a highly aggressive bone and soft-tissue cancer, is considered a prime example of the paradigms of a translocation-positive sarcoma: a genetically rather simple disease with a specific and neomorphic-potential therapeutic target, whose oncogenic role was irrefutably defined decades ago. […] Characteristically, EwS carry a balanced translocation. In 85–95% of all EwS patients, this rearrangement fuses the Ewing sarcoma breakpoint region 1 gene (EWSR1) on chromosome 22 to the friend of leukemia virus integration site 1 gene (FLI1) on chromosome 11 t(11;22)(q24;q12). The resulting EWSR1-FLI1 fusion product functions as an oncoprotein that is both necessary and presumably sufficient for tumorigenesis. […] Still, many aspects of the disease require further study, e.g., cryptic cell of origin, phenomenon of oncogene addiction as well as oncogene plasticity, distinct molecular activities and clinical relevance of fusion proteins in EwS, CIC-rearranged sarcoma, sarcoma with BCOR genetic alterations, and round cell sarcoma with EWSR1-non-ETS fusions (all together formerly known as “Ewing-like sarcoma”).

• #10 Ewing Sarcoma—Diagnosis, Treatment, Clinical Challenges and Future Perspectives

  https://www.mdpi.com/2077-0383/10/8/1685

  The prime and ongoing goal of biomarker research in EwS focus on identification and validation of biomarkers to stratify patients into specific clinical groups of EwS with similar prognostic outcome (e.g., depending on disease state), or which can help modulate therapy approaches (dose, intensity, novel agents) towards a more personalized medicine approach.

• #10 Ewing Sarcoma—Diagnosis, Treatment, Clinical Challenges and Future Perspectives

  https://www.mdpi.com/2077-0383/10/8/1685

  The definitive diagnosis of EwS should be made (or reviewed) at a sarcoma reference center by biopsy, providing sufficient material for conventional histology, immunohistochemistry, molecular pathology and biobanking. […] The correct diagnosis of EwS remains crucial and requires an interdisciplinary approach. Following clinical suspicion and radiologically added confirmation, a variety of options are available for retrieving the necessary biological material to achieve a histological diagnosis of a suspected bone tumor. […] The recommendation for open biopsy also reflects the need for tissue on which to conduct research. Only open biopsy carries the advantage to provide sufficient material for both histological diagnosis and translational research on tumor tissue prior systemic treatment.

• #11

  https://www.orthobullets.com/pathology/8047/ewings-sarcoma

  Ewing’s Sarcoma is a malignant, distinctive small round cell sarcoma associated with a t(11:22) translocation which most commonly occurs in the diaphysis of long bones in patients 25 with regional pain, swelling and fevers. […] cell of origin in Ewing’s Sarcoma unknown, however, thought to be of neuroectodermal origin. […] t(11:22) translocation found in 85-95% of cases leads to the formation of a fusion protein (EWS-FLI1). […] less common translocations including t(21:22) with fusion protein EWS-ERG comprise remaining 10-15%.

• #12 Ewing sarcoma – Wikipedia

  https://en.wikipedia.org/wiki/Ewing_sarcoma

  The resultant chromosomal translocation causes the EWS trans-activation domain (which is usually silent in the wild type) to become very active, this leads to the translation of a new EWS-FLI1 fusion protein. […] A 2012 genome-wide association study (GWAS) identified three susceptibility loci located on chromosomes 1, 10 and 15. […] A 2015 continuative study discovered that the Ewing sarcoma susceptibility gene EGR2, which is located within the chromosome 10 susceptibility locus, is regulated by the EWSR1-FLI1 fusion oncogene via a GGAA-microsatellite. […] A 2018 GWAS reaffirmed the susceptibility loci on chromosomes 1, 10 and 15 and added 3 additional loci on chromosomes 6 and 20; totaling 1p36.22, 6p25.1, 10q21.3, 15q15.1, 20p11.22 and 20p11.23.

• #13 In the Genes: How Science Is Fighting Ewing sarcoma | Alex’s Lemonade Stand Foundation for Childhood Cancer

  https://www.alexslemonade.org/blog/2017/07/genes-how-science-fighting-ewings-sarcoma

  Ewing’s Sarcoma is the result of a single oncogene called EWS-FLI1. […] What appears on an MRI as a large tumor in the bone and growing into the adjoining tissue of the body, is really the result of one of the tiniest parts of the human genomea single abnormal oncogene, known as EWS-FLI1. It is this oncogene that orchestrates a single cells conversion into an Ewings sarcoma tumor. […] EWS-FLI1 is the result of a complicated and fascinating process called chromosomal translocation, which happens when a portion of one gene trades places with a portion of another gene and causes an abnormal chromosome fusion within a single cell in the body. […] Once created, EWS-FLI1 begins a very precise process of turning other genes on and off in a specific pattern to drive the growth of Ewings sarcoma.

• #13 In the Genes: How Science Is Fighting Ewing sarcoma | Alex’s Lemonade Stand Foundation for Childhood Cancer

  https://www.alexslemonade.org/blog/2017/07/genes-how-science-fighting-ewings-sarcoma

  Removing EWS-FLI1 from the cells of the body seems to be the logical cure. […] We need to unlock the puzzle by using research to find the critical pieces of information that show how this oncogene causes Ewings sarcoma, said Dr. Lessnick. […] One approach is to target the oncogene itself (or more properly, the protein that is made by that oncogene). […] Unfortunately, EWS-FLI1 is not thought to contain any pockets for a drug to be effective. […] Another approach, which Dr. Lessnick is studying, is to target the other enzymes that EWS-FLI1 itself sticks to and uses to drive the growth of Ewings sarcoma. […] Using a drug that was created to target LSD1 in breast and prostate cancers, Dr. Lessnick and colleagues have demonstrated that the drug kills Ewings sarcoma cells in the laboratory setting.

• #14 Supporting Ewing Sarcoma Research | CureSearch

  https://curesearch.org/get-involved/legacy-or-champion-fund-for-childhood-cancer/400-2/nick-currey-fund-supporting-ewing-sarcoma-research/

  Ewing sarcoma occurs because of a chromosomal abnormality that causes an atypical protein, known as EWS/FLI, to be expressed. […] Dr.Beckerle and a collaborative team at the Huntsman Cancer Institute have demonstrated that the EWS/FLI mutation disrupts the internal cellular skeleton, which allows cells to move out of their normal environment. A cell that does not remain in its normal environment is more likely to travel to another area of the body, facilitating the spread of the tumor. Therefore, being able to stop EWS/FLI from changing a cell’s “stickiness” might help stop the spread of cancer. […] Dr. Beckerle’s team identified a novel targeted treatment for Ewing sarcoma that disrupts the effects of EWS/FLI and disrupts the spread of the cancer.

• #15 What is Ewing Sarcoma? – Rally Foundation

  https://rallyfoundation.org/what-is-ewing-sarcoma/

  Ewing sarcoma is believed to be a random mutation that causes a fusion gene. Ewing sarcoma involves two genes on two chromosomes: EWSR1 gene on chromosome 22 and FLI1 on chromosome 11, forming EWSR1/FLI1 fusion gene. This genetic change is not inherited. […] „The main challenge with finding new treatments for Ewing sarcoma is that we still don’t know enough about the biology of the disease,” Dr. Crompton said. „We do know that Ewing sarcoma is driven by a mutation that creates a unique cancer-causing protein called EWS/FLI.”

• #16 Pathology Outlines – Ewing sarcoma

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

  Chromosomal translocation commonly involving EWSR1 and ETS partner […] Cell of origin possibly mesenchymal stem cell (Cancer Cell 2007;11:421)

• #17 Ewing Sarcoma in Children | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/ewing-sarcoma/

  Ewing sarcoma most often occurs in children between 10- and 20-years-old. […] The majority of Ewing sarcomas result from a chromosome rearrangement between chromosomes #11 and #22. This rearrangement changes the position and function of genes, causing a fusion of genes referred to as a „fusion transcript.” Over 90% of individuals have an abnormal fusion transcript, involving two genes known as EWS and FLI1. […] Similar to osteogenic sarcoma, trauma or injury is sometimes involved with the site at the time of diagnosis. However, this trauma is thought to bring the condition to attention rather than to have any causal relationship. […] Some physicians classify Ewing sarcoma as a primitive neuroectodermal tumor (PNET). This means the tumor may have started in fetal, or embryonic, tissue that has developed into nerve tissue.

• #18 Discovering the cell origin of Ewing sarcoma – Children’s Cancer Research Fund

  https://childrenscancer.org/discovering-the-cell-origin-of-ewing-sarcoma/

  For decades, the question of Ewing sarcomas genetic beginnings has stumped scientists, leaving potential therapeutic targets undiscovered. […] But, that does not tell researchers much, because the fusion alters the activity of thousands of other genes simultaneously, essentially throwing a genetic smoke bomb. […] We presume this means that some genomes are permissive to EWS-FLI1 induced carcinogenesis, while some are not, says Dr. Spector. […] Dr. Spector observed that individuals of European ancestry are about 10 times more likely to develop Ewing sarcoma than those of African ancestry.

• #19 Ewing Sarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559183/

  Ewing sarcoma family tumors are characterized by non-random chromosomal translocations producing fusion genes that encode aberrant transcription factors. The t(11;22)(q24;q12) translocation is associated with 85% of tumors and leads to EWS-FLI-1 formation, whereas t(21;12)(22;12) and other less common translocations induced EWS-ERG fusion comprises the remaining 10% to 15% of cases. […] There is no well-established association between Ewing sarcoma and environmental risk factors, drug exposure, radiation history, or cancer history in the family. Studies have been limited to small retrospective, case-control studies. […] The translocation’s underlying etiology has not been established.

• #20 Ewing Sarcoma Causes, Symptoms, and Treatments

  https://www.upmc.com/services/orthopaedics/conditions/ewings-sarcoma

  Ewing sarcoma is an aggressive, malignant (cancerous) tumor that typically affects older children and teenagers. […] Doctors define Ewing sarcoma as a malignant tumor that begins in a bone. The tumor most often occurs in the large bones of the body. […] Ewing sarcoma most often occurs in older children and teens. Very rarely, it can form in younger children or older adults. […] Ewing sarcoma can occur at any age but is most common in school-age children and teenagers. […] There are no known risk factors for Ewing sarcoma. Doctors haven’t found any clear links between Ewing’s tumors and lifestyle, diet, genetics, chemicals, or other environmental factors. […] Doctors don’t know what causes Ewing sarcoma to form. […] They do know that the tumor begins when a cell’s chromosomes change. In Ewing’s sarcoma cancer cells, the genetic material (DNA) in two specific chromosomes (11 and 22) gets mismatched. But doctors don’t know why this leads to a tumor forming.

• #21 Ewing Sarcoma: Symptoms, Treatment & Prognosis

  https://my.clevelandclinic.org/health/diseases/21752-ewings-sarcoma

  Ewing sarcoma is a group of rare cancerous tumors that typically affect teenagers but can also affect younger kids and young adults. […] While there’s no clear answer now, medical researchers know that a genetic mutation, or change, turns normal cells into Ewing sarcoma cells. These cells multiply and create cancerous tumors on people’s bones or soft tissues. […] Researchers don’t know what triggers the mutation. But they do know the changes happen after birth. That means biological parents don’t pass the genetic mutation on to their biological children. Researchers also rule out exposure to carcinogens like tobacco, alcohol or chemicals that increase cancer risk. […] Ewing sarcoma risk factors are things you can’t change or prevent: Age: People can develop Ewing sarcoma at any age, but more than 50% of people are diagnosed between ages 10 and 20. The median age at diagnosis is 15. […] Ewing sarcoma is more common in boys than in girls. […] People who are white are more likely to develop Ewing sarcoma than people who are Black or Latino. […] There’s no known way to prevent Ewing sarcoma.

• #22 Frequently Asked Questions About Ewing’s Sarcoma | CancerIndex

  http://www.cancerindex.org/ccw/faq/ewings.htm

  Ewing’s sarcoma is a cancer. […] We do not know what causes Ewing’s sarcoma. […] The cause of Ewing’s sarcoma / pPNET remains unknown. […] In young people, the development of the tumour appears to be in some way related to periods in life with rapid growth, hence the average for tumour development is 14-15 years. […] However, Ewing’s sarcoma remains an extremely rare tumour in all groups of the population, and there is no extra cause for concern in rapidly growing teenagers. […] The relationship between bone growth and Ewing’s sarcoma is thought to be due to an increased vulnerability of rapidly growing cells to damage caused by chance or by as yet unidentified factors. […] Sometimes the person with Ewing’s sarcoma or the parents relate a previous injury or trauma to the development of the tumour. However, medical research has not found any proven relationship between such injury and the risk of subsequently developing Ewing’s sarcoma.

• #23 Recognizing Ewing’s Sarcoma Symptoms: Important Signs to Watch For | Medanta

  https://www.medanta.org/patient-education-blog/signs-and-symptoms-of-ewings-sarcoma-one-should-know

  Additionally, Ewing’s sarcoma occurs more frequently in males than females, although the reasons for this gender disparity remain unclear. […] Ewing’s sarcoma most commonly arises in the bones, particularly in the long bones of the arms and legs, as well as the pelvis and chest wall. […] The rapid growth and development of bones during childhood and adolescence may create an environment that is conducive to the development of cancerous tumors. […] Additionally, the presence of certain growth factors and signaling molecules in bone tissue may play a role in promoting the growth of Ewing’s sarcoma cells.

• #24 Ewing sarcoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ewing-sarcoma?lang=us

  Ewing sarcomas are the second most common malignant primary bone tumors of childhood after osteosarcoma, typically arising from the medullary cavity with the invasion of the Haversian system. […] The Ewing sarcoma family of tumors primarily occurs in White patients. In the United States, the incidence in the Asian/Pacific Islander population is about one-half that in the White population, while the incidence in the Black population is one-ninth that in White population. […] Ewing sarcoma is a small round blue cell tumor with regular-sized primitive-appearing cells. It is closely related to the soft tissue tumors pPNET, Askin tumor, and neuroepithelioma, which collectively are referred to as Ewing sarcoma family of tumors (ESFT). They share not only microscopic appearances but also demonstrate a non-random t(11;22)(q24;q12) chromosome rearrangement. […] Prognosis is significantly impacted by the presence of distant metastases at the time of diagnosis, which is far more common for the pelvis (25-30%) compared to extremities (10%).

• #25

  https://link.springer.com/article/10.1007/s10552-023-01737-4

  The incidence of Ewing sarcoma varies according to race and ethnicity, and genetic susceptibility is known to affect disease risk. Apart from these factors, the etiology of Ewing sarcoma is largely unknown. […] This population-based study with minimal selection bias provides support for a role of accelerated fetal growth in the etiology of Ewing sarcoma in addition to more precise estimates of racial and ethnic variations in disease risk. […] Given the rarity of Ewing sarcoma, epidemiologic evaluations of the etiology of this disease are limited, with the most notable and longstanding observation that the disease has a profoundly lower incidence among those of self-described African ancestry compared to other groups, particularly when compared to those of European ancestry. […] We also found that the elevated risk among non-Hispanic White individuals was more extreme for patients exhibiting metastatic disease, which is a poor prognostic indicator and may suggest a biologically more aggressive disease.

• #25

  https://link.springer.com/article/10.1007/s10552-023-01737-4

  Our family-based evaluation identified strong evidence for the involvement of familial predisposition alleles in the etiology of rhabdomyosarcoma and osteosarcoma, but no evidence for Ewing and synovial sarcomas. […] Besides race and ethnicity, we note a significantly increased risk of Ewing sarcoma in those with a heavier birthweight, which was not identified by prior analyses to our knowledge.

• #26 Ewing sarcoma | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/cancer/cancer-types-in-adults/ewing-sarcoma/

  Ewing sarcoma is a rare type of bone cancer. […] Like other types of bone cancer, the exact cause of Ewing sarcoma is unknown. […] As the condition tends to predominantly affect older children and teenagers, one theory is that it may be related to fast-growing bones. […] The rapid growth spurt that happens during puberty may in some way make bone tissue more vulnerable to cancer. […] Research has also found babies born with an umbilical hernia are 3 times more likely to develop Ewing sarcoma. […] However, the increased risk is still small as only 1 in 110,000 children with an umbilical hernia will go on to develop the condition.

• #27 Ewing sarcoma: Children | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/cancer/cancer-types-in-children/ewing-sarcoma-children/

  Ewing sarcoma is a type of bone cancer in children and young people. […] The exact causes of primary bone cancer are unknown. The development of Ewing sarcoma may be related in some way to times of rapid bone growth, which may explain why more cases are seen in teenagers. […] Like other cancers, its not infectious and cannot be passed on to other people.

• #28 Risks and causes | Soft tissue sarcoma | Cancer Research UK

  https://www.cancerresearchuk.org/about-cancer/soft-tissue-sarcoma/risks-causes

  We don’t know what causes most soft tissue sarcomas. But some factors may increase your risk of developing it. […] In children, it is linked to previous radiotherapy treatment for: Ewing sarcomas. […] A Ewing sarcoma is more likely with children born with: a hernia of the tummy button (a congenital umbilical hernia), a hernia at the top of the leg (an inguinal hernia). […] It is not clear why hernias increase the risk of sarcoma.

• #29 Study Reveals Inherited Risk Genes for Ewing Sarcoma | Dana-Farber Cancer Institute

  https://blog.dana-farber.org/insight/2023/01/study-reveals-inherited-risk-genes-for-ewing-sarcoma/

  A study led by Dana-Farber researchers has revealed that inherited variations in certain DNA damage repair genes may increase an individuals susceptibility to Ewing sarcoma, an aggressive cancer that tends to strike teenagers and young adults. […] Most cases of Ewing sarcoma seem to occur randomly. The underlying fault is a genetic change involving the swapping of pieces of chromosome 11 and 22, which turns on a gene that is normally silent. When this gene is activated, cells grow out of control and form tumors. But what causes the chromosomal abnormality is not known. […] The only germline gene variants that appeared more often in Ewing sarcoma patients than in the other sarcoma types were in the gene FANCC, which stands for Fanconi anemia, complementation group C. […] We think the germline variants in DNA damage repair genes suggest a genetic basis for how rearrangements that drive this sarcoma occur, says Gillani.

• #29 Study Reveals Inherited Risk Genes for Ewing Sarcoma | Dana-Farber Cancer Institute

  https://blog.dana-farber.org/insight/2023/01/study-reveals-inherited-risk-genes-for-ewing-sarcoma/

  However, they noted that these risk variants were found at a low level and that parents whose germline cells contained the risk variants didn’t necessarily have Ewing sarcoma. This suggests, the scientists said, that the variant DNA repair genes display moderate penetrance meaning that these variants play a substantial role in increasing risk for developing Ewing sarcoma, but are most likely not sufficient to cause the disease in isolation. […] Because of the rarity of these germline variants and the rarity of Ewing sarcoma, it would be difficult to use these by themselves to screen patients at risk, Gillani says. But we are thinking about them as clues for where and how to look for risk factors going forward.

• #30 Ewing Sarcoma | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/21419

  There is no well-established association between Ewing sarcoma and environmental risk factors, drug exposure, radiation history, or cancer history in the family. Studies have been limited to small retrospective, case-control studies. […] The cell of origin for Ewing sarcoma is not fully understood. Nonrandom gene rearrangements involving the EWS and the ETS (E26 transformation-specific or E-twenty-six) gene family distinguish Ewing sarcoma. […] The translocation’s underlying etiology has not been established. […] The second most common EWSETS gene family rearrangement is t(21;22)(q22;q12) translocation, resulting in the fusion of EWS with the ERG gene on 21q22 (observed in about 15% of cases). […] More chromosomal translocations and complex gene rearrangements have also been reported in the literature. However, whether they are associated with more aggressive tumor features is unclear.

• #31 Ewing sarcoma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ewing-sarcoma/diagnosis-treatment/drc-20351072

  Ewing sarcoma cells mostly have changes in the EWSR1 gene. Most often the EWSR1 gene joins with another gene called FLI1. This creates a new gene called EWS-FLI1. […] Testing the cancer cells for these gene changes can help confirm your diagnosis.

• #32 Ewing sarcoma | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/ewing-sarcoma

  Ewing sarcoma is characterized by chromosome changes that occur after birth. In a process known as translocation, chromosomes 11 and 22 swap small pieces of each other. The result is an abnormal gene that can be detected with DNA testing. […] It is not known why the Ewing sarcoma translocation occurs. […] The cause of Ewing sarcoma is genetic in that it comes from genetic changes in tumor cells but it is not inherited like some other childhood cancers. Parents cant pass along the genetic changes associated with Ewing sarcoma to their children.

• #33 Schiffman Lab – Ewing Sarcoma | University of Utah Health | University of Utah Health

  https://uofuhealth.utah.edu/huntsman/labs/schiffman/research/ewing-sarcoma

  If a genetic predisposition is identified, this could lead to improvements in screening and survival for Ewing Sarcoma patients. […] We are very interested in looking at copy number changes in the tumors of patients with Ewing Sarcoma, as well as specific genes like CEBPb that promote the formation of Ewing Sarcoma cell colonies and chemotherapy resistance.

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