Materiały źródłowe

• #1 What Causes Rhabdomyosarcoma?| Causes of Rhabdomyosarcoma | American Cancer Society

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

  The cause of most cases of rhabdomyosarcoma (RMS) is not well understood, and there are very few known risk factors for this type of cancer. […] Researchers now understand many of the gene changes that can lead to RMS, but it’s still not clear what causes these changes. Some gene changes can be inherited from a parent. Others might just be a random event that sometimes happens inside a cell, without having an outside cause. There are no known lifestyle-related or environmental causes of RMS, so it’s important to know that there is nothing children with RMS or their parents could have done to prevent these cancers.

• #2 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  Rhabdomyosarcoma (RMS) is a malignant soft tissue sarcoma that is believed to originate from primitive mesenchymal cells that typically differentiate into skeletal tissue. […] The etiology and risk factors remain largely unknown. Most cases of rhabdomyosarcoma are sporadic; however, the disease can be associated with familial syndromes. […] Although the etiology of rhabdomyosarcoma is largely unknown, there is evidence of an underlying genetic component because a chromosomal translocation has been identified in many RMS tumors, and RMS has been associated with several inherited cancer syndromes (eg, Noonan, Li-Fraumeni, Beckwith-Wiedemann, and Costello. […] An increased risk of developing RMS is also seen with other factors, including fetal radiation exposure, parental drug use, family history of RMS in a first-degree relative, preterm birth, fertility drug use, and history of congenital defects.

• #3 Childhood Rhabdomyosarcoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/soft-tissue-sarcoma/hp/rhabdomyosarcoma-treatment-pdq

  Most cases of rhabdomyosarcoma occur sporadically, with no recognized predisposing risk factor. […] Predisposition factors reported for rhabdomyosarcoma include the following: Genetic factors: Li-Fraumeni cancer susceptibility syndrome (with germline TP53 pathogenic variants). […] High birth weight and large size for gestational age are associated with an increased incidence of embryonal rhabdomyosarcoma. […] The Children’s Oncology Group (COG) performed retrospective exome sequencing on germline DNA to determine the prevalence of 63 autosomal dominant cancer-predisposing genes in 615 patients with newly diagnosed rhabdomyosarcoma. […] Germline pathogenic or likely pathogenic variants were more frequent in patients with embryonal rhabdomyosarcoma than in those with alveolar rhabdomyosarcoma (10% vs. 3%, P = .02), but all of the patients with alveolar rhabdomyosarcoma were FOXO1 negative, and no germline variants were identified in patients with FOXO1 translocations.

• #4 What Causes Rhabdomyosarcoma?| Causes of Rhabdomyosarcoma | American Cancer Society

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

  The cause of most cases of rhabdomyosarcoma (RMS) is not well understood, and there are very few known risk factors for this type of cancer. […] Researchers now understand many of the gene changes that can lead to RMS, but it’s still not clear what causes these changes. Some gene changes can be inherited from a parent. Others might just be a random event that sometimes happens inside a cell, without having an outside cause. There are no known lifestyle-related or environmental causes of RMS, so it’s important to know that there is nothing children with RMS or their parents could have done to prevent these cancers.

• #5 Rhabdomyosarcoma – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rhabdomyosarcoma/symptoms-causes/syc-20390962

  It’s not clear what causes rhabdomyosarcoma. It starts when a soft tissue cell develops changes in its DNA. A cell’s DNA holds the instructions that tell a 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. […] Factors that may increase the risk of rhabdomyosarcoma include: […] Inherited syndromes. Rarely, rhabdomyosarcoma has been linked to genetic syndromes that are passed from parents to children. These include neurofibromatosis 1, Noonan syndrome, Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome and Costello syndrome.

• #6 Rhabdomyosarcoma: Symptoms, Prognosis & Treatment

  https://my.clevelandclinic.org/health/diseases/6226-rhabdomyosarcoma

  Rhabdomyosarcoma happens when immature muscle cells mutate, becoming cancerous cells that multiply and create tumors. Certain genetic mutations, including a change that creates the fusion gene PAX/FOX01, may cause a type of rhabdomyosarcoma. People with certain inherited disorders have an increased risk of developing the condition: […] Rhabdomyosarcoma is a very rare cancer. Experts dont know all the reasons why it happens. If you or your child have rhabdomyosarcoma, you may feel frustrated because experts dont know the exact cause.

• #7 Rhabdomyosarcoma | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/rhabdomyosarcoma/

  Rhabdomyosarcoma is a cancerous tumor that originates in the soft tissues of the body, including the muscles, tendons and connective tissues. […] Rhabdomyosarcomas usually have some type of chromosome abnormality in the cells of the tumor, which are responsible for the tumor formation. […] In children with an embryonal rhabdomyosarcoma, there is usually an abnormality of chromosome #11. […] In alveolar rhabdomyosarcoma, a rearrangement in the chromosome material between chromosomes #1 or #2 and #13 is usually present. […] Rhabdomyosarcomas are also more common in children with neurofibromatosis or Li-Frameni syndrome, which are genetic disorders. […] Li-Frameni syndrome is a clustering of soft tissue cancers in a family, caused by mutations in a tumor suppressor gene called p53, which results in uncontrolled cell growth. […] There has been no association between rhabdomyosarcoma and environmental exposures.

• #8 Rhabdomyosarcoma | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/rhabdomyosarcoma/

  Rhabdomyosarcoma is a cancerous tumor that originates in the soft tissues of the body, including the muscles, tendons and connective tissues. […] Rhabdomyosarcomas usually have some type of chromosome abnormality in the cells of the tumor, which are responsible for the tumor formation. […] In children with an embryonal rhabdomyosarcoma, there is usually an abnormality of chromosome #11. […] In alveolar rhabdomyosarcoma, a rearrangement in the chromosome material between chromosomes #1 or #2 and #13 is usually present. […] Rhabdomyosarcomas are also more common in children with neurofibromatosis or Li-Frameni syndrome, which are genetic disorders. […] Li-Frameni syndrome is a clustering of soft tissue cancers in a family, caused by mutations in a tumor suppressor gene called p53, which results in uncontrolled cell growth. […] There has been no association between rhabdomyosarcoma and environmental exposures.

• #9 Rhabdomyosarcoma | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/rhabdomyosarcoma/

  Rhabdomyosarcoma is a cancerous tumor that originates in the soft tissues of the body, including the muscles, tendons and connective tissues. […] Rhabdomyosarcomas usually have some type of chromosome abnormality in the cells of the tumor, which are responsible for the tumor formation. […] In children with an embryonal rhabdomyosarcoma, there is usually an abnormality of chromosome #11. […] In alveolar rhabdomyosarcoma, a rearrangement in the chromosome material between chromosomes #1 or #2 and #13 is usually present. […] Rhabdomyosarcomas are also more common in children with neurofibromatosis or Li-Frameni syndrome, which are genetic disorders. […] Li-Frameni syndrome is a clustering of soft tissue cancers in a family, caused by mutations in a tumor suppressor gene called p53, which results in uncontrolled cell growth. […] There has been no association between rhabdomyosarcoma and environmental exposures.

• #10 Rhabdomyosarcoma | Texas Children’s

  https://www.texaschildrens.org/content/conditions/rhabdomyosarcoma

  Rhabdomyosarcoma (RMS) is a cancerous tumor that originates in the soft tissues of the body, including the muscles, tendons, and connective tissues. […] It is believed that some rhabdomyosarcoma tumors begin developing in the fetus. Rhabdomyoblasts are the cells that will mature and develop into muscles. There has been much research into the gene structure of these rhabdomyoblasts and possible detection of a gene error that can produce the disease later in development. […] Rhabdomyosarcomas usually have some type of chromosome abnormality in the cells of the tumor, which are responsible for the tumor formation. In children with an embryonal rhabdomyosarcoma (ERMS), there are usually extra chromosome copies, known as hyperdiploidy, which can be seen with other pediatric cancers. For alveolar rhabdomyosarcoma (ARMS), a rearrangement in the chromosome material between chromosomes 1 or 2 and chromosome 13 is usually present. This rearrangement changes the position and function of genes, causing a fusion of genes referred to as a fusion transcript. Patients have an abnormal fusion transcript involving two genes known as PAX7 or PAX3 and FKHR. This important discovery has led to improvements in diagnosing rhabdomyosarcoma.

• #11 Rhabdomyosarcoma – Wikipedia

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

  Rhabdomyosarcoma is difficult to diagnose. Risk factors that increase the likelihood of this cancer include inherited disorders such as Li-Fraumeni syndrome, Neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Costello syndrome, Noonan syndrome, and DICER1 syndrome. […] There are multiple genetic lesions associated with rhabdomyosarcoma, but there has been little consistent data demonstrating an association between specific genetic abnormalities and outcome. However, alveolar and embryonal types of RMS can be distinguished cytogenetically, and identification of specific genetic lesions can allow for accurate classification of the ARMS subtype when the histopathological findings are equivocal or unclear. […] The loss-of-function of tumor suppressor p53 is associated with many cancers including rhabdomyosarcoma, and approximately 50% of RMS cases have been shown to carry some form of mutation to the P53 gene. Other oncogenes often associated with rhabdomyosarcoma, albeit with less frequency, include NMYC, NRAS, KRAS, P16, and c-Met.

• #12 Rhabdomyosarcoma – Wikipedia

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

  Rhabdomyosarcoma is difficult to diagnose. Risk factors that increase the likelihood of this cancer include inherited disorders such as Li-Fraumeni syndrome, Neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Costello syndrome, Noonan syndrome, and DICER1 syndrome. […] There are multiple genetic lesions associated with rhabdomyosarcoma, but there has been little consistent data demonstrating an association between specific genetic abnormalities and outcome. However, alveolar and embryonal types of RMS can be distinguished cytogenetically, and identification of specific genetic lesions can allow for accurate classification of the ARMS subtype when the histopathological findings are equivocal or unclear. […] The loss-of-function of tumor suppressor p53 is associated with many cancers including rhabdomyosarcoma, and approximately 50% of RMS cases have been shown to carry some form of mutation to the P53 gene. Other oncogenes often associated with rhabdomyosarcoma, albeit with less frequency, include NMYC, NRAS, KRAS, P16, and c-Met.

• #13 Embryonal rhabdomyosarcoma – Wikipedia

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

  Embryonal rhabdomyosarcoma results from copy number alterations as well as mutations in the RAS pathway. Genomic patterns associated with ERMS include the gains in chromosomes 8, 2, 11, 12, 13, and 20 and losses in chromosomes 10 and 15. Another common genomic alteration is loss of heterozygosity at chromosome 11p, the short arm of chromosome 11. It is believed that some of the identifying genetic mutations that can cause ERMS include p53 loss, RAS pathway activation, MYOD1 mutations. […] Focusing on the fusion negative population, it was shown that the most fusion-negative tumors were caused by RAS isoform mutations. Approximately 50% of ERMS is associated with RAS mutations, with NRAS mutations more common in adolescent cases and HRAS and KRAS mutations occurring in 70% of infant cases. Embryonal rhabdomyosarcoma is commonly driven by a mutation in the RAS family of proto-oncogenes, creating a powerful signal which is now known to promote tumor growth by preventing muscle lineage progression by blocking expression of the transcription factor myogenin.

• #14 Childhood Rhabdomyosarcoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/soft-tissue-sarcoma/hp/rhabdomyosarcoma-treatment-pdq

  The COG reviewed the correlation between anaplastic histology and germline TP53 pathogenic variants in 239 patients with rhabdomyosarcoma. […] The prognosis for children or adolescents with rhabdomyosarcoma is related to many clinical and biological factors, including the following: Age. […] The alveolar subtype of childhood rhabdomyosarcoma is more prevalent among patients with less favorable clinical features (e.g., younger than 1 year or older than 10 years, extremity and truncal primary tumors, and metastatic disease at diagnosis). […] Approximately 80% of rhabdomyosarcoma cases morphologically defined as alveolar rhabdomyosarcoma express a FOXO1 fusion. […] The specific fusion partner may have prognostic impact. […] Children with metastatic disease at diagnosis have the worst prognosis.

• #15 Rhabdomyosarcoma – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rhabdomyosarcoma/symptoms-causes/syc-20390962

  It’s not clear what causes rhabdomyosarcoma. It starts when a soft tissue cell develops changes in its DNA. A cell’s DNA holds the instructions that tell a 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. […] Factors that may increase the risk of rhabdomyosarcoma include: […] Inherited syndromes. Rarely, rhabdomyosarcoma has been linked to genetic syndromes that are passed from parents to children. These include neurofibromatosis 1, Noonan syndrome, Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome and Costello syndrome.

• #16 Rhabdomyosarcoma > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/rhabdomyosarcoma

  Rhabdomyosarcoma is a type of soft tissue cancer that develops in cells that were intended to develop into skeletal muscle tissue. However, rhabdomyosarcoma tumors appear in most cases, actually in body parts that don’t normally have skeletal muscle, such as the bladder. […] Doctors aren’t sure what causes rhabdomyosarcoma. Most cases arise for unknown reasons. However, people may be more likely to develop this form of cancer if they have inherited gene mutations such as: Li-Fraumeni syndrome, Neurofibromatosis type 1, DICER1 syndrome, Costello syndrome, Beckwith-Wiedemann syndrome, Noonan syndrome, Cardio-facio-cutaneous syndrome. […] The genetic mutations associated with these conditions may allow abnormal cells to multiply, leading to tumor development. In some cases, a mutation to the p53 tumor suppressor gene allows cells to continue dividing when they shouldn’t, leading to the formation of a tumor. Other times, people with rhabdomyosarcoma may have portions of their DNA switch between chromosomes. This change, known as the PAX/FOX01 fusion gene, may lead to uncontrolled cell division and tumor formation.

• #17 Risk Factors for Rhabdomyosarcoma | American Cancer Society

  https://www.cancer.org/cancer/types/rhabdomyosarcoma/causes-risks-prevention/risk-factors.html

  RMS is most common in children younger than 10, but it can also develop in teens and adults. It is slightly more common in boys than in girls. […] Some people have a tendency to develop certain types of cancer because they have inherited changes in their DNA (genes) from their parents. Some rare inherited conditions increase the risk of RMS (and usually some other tumors as well): Members of families with Li-Fraumeni syndrome are more likely to develop sarcomas (including RMS), breast cancer, leukemia, and some other cancers. Children with Beckwith-Wiedemann syndrome have a high risk of developing Wilms tumor, a type of kidney cancer, but they are also more likely to develop RMS and some other types of childhood cancer. Neurofibromatosis type 1, also known as von Recklinghausen disease, usually causes multiple nerve tumors (especially in nerves of the skin), but it also increases the risk of RMS. Costello syndrome is very rare. Children with this syndrome have high birth weights but then fail to grow well and are short. They also tend to have a large head. They are prone to develop RMS as well as some other tumors. Noonan syndrome is a condition in which children tend to be short, have heart defects, and can be slower than typical children in developing physical skills and learning things. They are also at higher risk for RMS.

• #18 Rhabdomyosarcoma (RMS) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/rms.html

  Rhabdomyosarcoma (RMS) is a cancerous tumor that develops in the body’s soft tissues, usually the muscles. […] The cause of RMS isn’t clear, but doctors know that certain medical conditions can make some children more likely to develop it. These include genetic conditions like: Li-Fraumeni syndrome, a rare genetic disorder that makes a person likely to develop cancer at some point in their life; Neurofibromatosis type 1, a congenital (present at birth) condition that may cause tumors to grow on nerve tissue; Beckwith-Wiedemann syndrome, a congenital (present at birth) disorder that can cause too much growth in the body, including the internal organs; Costello syndrome and Noonan syndrome, both of which can cause deformities, developmental delays, and other problems; DICER1 syndrome, a genetic disorder that can lead to cancer developing in affected children.

• #19 Pediatric Rhabdomyosarcoma: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/939156-overview

  The cause of rhabdomyosarcoma is unclear. Several genetic syndromes and environmental factors are associated with increased prevalence of rhabdomyosarcoma. […] Genetic syndromes include the following: Neurofibromatosis (4-5% risk of any one of numerous malignancies), Li-Fraumeni syndrome (germline mutation of the tumor suppressor gene TP53), Rubinstein-Taybi syndrome, Gorlin basal cell nevus syndrome, Beckwith-Wiedemann syndrome, Costello syndrome. […] A higher prevalence of congenital anomalies are observed in patients who later develop rhabdomyosarcoma with locations as follows: Genitourinary (GU) tract, CNS (ie, Arnold-Chiari malformation), GI tract, Cardiovascular system. […] Environmental factors appear to influence the development of rhabdomyosarcoma, as follows: Parental use of marijuana and cocaine, Intrauterine exposure to X-rays, Previous exposure to alkylating agents.

• #20 Paratesticular Rhabdomyosarcoma | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/paratesticular-rhabdomyosarcoma/

  Most cases of cancer in children, including rhabdomyosarcoma, are sporadic (not inherited). […] However, some genetic diseases can increase your childs risk for paratesticular cancer, such as: Beckwith-Wiedemann syndrome, Costello syndrome, DICER1 syndrome, Hepatoblastoma, Li-Fraumeni cancer susceptibility syndrome, Neurofibromatosis type I, Noonan syndrome, Wilms tumor.

• #21 Embryonal rhabdomyosarcoma – Wikipedia

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

  Tumor suppressor gene mutations, such as TP53 mutations, were shown in about 13% in the mutations and MYOD1 mutations were seen in about 3% of the mutations. Tumor suppressors signal the cell to stop the cell cycle and start apoptosis, known as programmed cell death, when the cell senses damage or irregular cell cycle growth patterns. Approximately 10% of ERMS cases include a loss of function mutation at TP53, which results in anaplasia, poor cellular differentiation that can be identified through nuclei that are larger and darker-colored than normal. […] Genetic conditions such as Gorlin syndrome, neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, Noonan syndrome, Costello syndrome, and DICER1 syndrome have been shown to predispose individuals to embryonal rhabdomyosarcoma. Risk factors associated with embryonal rhabdomyosarcoma include cigarette smoking, older age of birth parent, x-ray exposure, and maternal drug use. Of note, the development of Noonan syndrome, Costello syndrome, and neurofibromatosis type 1 are RASopathies, associated with mutations in the RAS cell signaling pathway. ERMS caused by genetically inherited mutations cannot be morphologically distinguished from spontaneously acquired ERMS.

• #22 Rhabdomyosarcoma in Children – Just Diagnosed | CureSearch

  https://curesearch.org/Rhabdomyosarcoma-Just-Diagnosed/

  Researchers currently do not know what causes rhabdomyosarcoma. In most cases, there are no clear predisposing risk factors for the development of RMS. However, it has been associated with some inherited diseases including: […] Children with these conditions are at higher risk for rhabdomyosarcoma, but these account for only a small fraction of cases.

• #23 Pediatric Rhabdomyosarcoma: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/939156-overview

  The cause of rhabdomyosarcoma is unclear. Several genetic syndromes and environmental factors are associated with increased prevalence of rhabdomyosarcoma. […] Genetic syndromes include the following: Neurofibromatosis (4-5% risk of any one of numerous malignancies), Li-Fraumeni syndrome (germline mutation of the tumor suppressor gene TP53), Rubinstein-Taybi syndrome, Gorlin basal cell nevus syndrome, Beckwith-Wiedemann syndrome, Costello syndrome. […] A higher prevalence of congenital anomalies are observed in patients who later develop rhabdomyosarcoma with locations as follows: Genitourinary (GU) tract, CNS (ie, Arnold-Chiari malformation), GI tract, Cardiovascular system. […] Environmental factors appear to influence the development of rhabdomyosarcoma, as follows: Parental use of marijuana and cocaine, Intrauterine exposure to X-rays, Previous exposure to alkylating agents.

• #24 Pediatric Rhabdomyosarcoma: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/939156-overview

  The cause of rhabdomyosarcoma is unclear. Several genetic syndromes and environmental factors are associated with increased prevalence of rhabdomyosarcoma. […] Genetic syndromes include the following: Neurofibromatosis (4-5% risk of any one of numerous malignancies), Li-Fraumeni syndrome (germline mutation of the tumor suppressor gene TP53), Rubinstein-Taybi syndrome, Gorlin basal cell nevus syndrome, Beckwith-Wiedemann syndrome, Costello syndrome. […] A higher prevalence of congenital anomalies are observed in patients who later develop rhabdomyosarcoma with locations as follows: Genitourinary (GU) tract, CNS (ie, Arnold-Chiari malformation), GI tract, Cardiovascular system. […] Environmental factors appear to influence the development of rhabdomyosarcoma, as follows: Parental use of marijuana and cocaine, Intrauterine exposure to X-rays, Previous exposure to alkylating agents.

• #25 Risk Factors for Rhabdomyosarcoma | American Cancer Society

  https://www.cancer.org/cancer/types/rhabdomyosarcoma/causes-risks-prevention/risk-factors.html

  Some studies have suggested that being exposed to x-rays before birth might be linked with an increased risk of RMS in young children. Parental use of drugs such as marijuana and cocaine has been suggested as a possible risk factor as well. But the studies that have found these links have been small, and more research is needed to see if these factors are truly linked to RMS.

• #26 Early Life Factors and Risk of Childhood Rhabdomyosarcoma

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3854857/

  Although little is known about etiology of childhood rhabdomyosarcoma (RMS), early life factors are suspected in the etiology. […] We found a statistically non-significant association between high birth weight and RMS, even though our models suggested small (2128%) risk increases, particularly for embryonal RMS, among children in the 40005250g birth weight group. […] The genetic aberrations observed among embryonal RMS and alveolar RMS are associated with both genetic and epigenetic changes resulting in overexpression of genes in the IGF2 pathway (such as IGF2 and IGFR1). […] Given that the majority of RMS cases are sporadic in nature, environmental factors may play an important role in the genomic and epigenetic alterations causing these tumors. […] Our findings on male sex and per year increase in parental age at child’s birth for all RMS types are consistent with previous studies. […] In addition, our data showed a moderate (1.7-fold) increase in risk for alveolar RMS among those with no or late prenatal care and a 1.3-fold increase in risk for all-type RMS among children with 35-year-old fathers at child birth, which have not been reported before.

• #27 Rhabdomyosarcoma: Symptoms and Treatment | Doctor

  https://patient.info/doctor/rhabdomyosarcoma-pro

  Most cases are sporadic in nature. […] Genetic risk factors: certain genetic disorders develop RMS more frequently, including Li-Fraumeni syndrome, Neurofibromatosis type I, Costello syndrome, Noonan syndrome, Beckwith-Wiedemann syndrome and DICER1 syndrome. However, only about 5% with RMS are thought to have co-morbid germline susceptibility syndromes. […] Environmental factors which may increase the risk of rhabdomyosarcoma include: Parental use of marijuana and cocaine. […] Intrauterine exposure to X-rays. […] Vaginal bleeding during pregnancy. […] Premature birth.

• #28 Soft Tissue Sarcoma (Rhabdomyosarcoma)

  https://www.healthline.com/health/rhabdomyosarcoma

  Usually, the cause of a soft tissue sarcoma isnt identified. […] Rhabdomyosarcomas are malignant tumors in skeletal muscle. […] Some inherited or acquired DNA mutations, or defects, can make you more prone to developing a soft tissue sarcoma: Basal cell nevus syndrome increases your risk of basal cell skin cancer, rhabdomyosarcoma, and fibrosarcoma. […] Tuberous sclerosis can result in rhabdomyosarcoma. […] Exposure to certain toxins, such as dioxin, vinyl chloride, arsenic, and herbicides that contain phenoxyacetic acid at high doses may increase your risk of developing soft tissue sarcomas. […] Radiation exposure, especially from radiation therapy, can be a risk factor. […] Chemotherapy regimens do effectively treat one of the most common sarcomas, rhabdomyosarcoma.

• #29 Rhabdomyosarcoma | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/soft-tissue-sarcoma/rhabdomyosarcoma

  Rhabdomyosarcoma is a rare type of soft tissue sarcoma. […] The causes of rhabdomyosarcoma are unknown. […] Rhabdomyosarcoma is slightly more common in people with rare inherited genetic conditions, such as Li-Fraumeni syndrome. […] Soft tissue sarcomas may occur in an area that has previously been treated with radiotherapy for another type of cancer.

• #30 Risk Factors for Rhabdomyosarcoma | American Cancer Society

  https://www.cancer.org/cancer/types/rhabdomyosarcoma/causes-risks-prevention/risk-factors.html

  RMS is most common in children younger than 10, but it can also develop in teens and adults. It is slightly more common in boys than in girls. […] Some people have a tendency to develop certain types of cancer because they have inherited changes in their DNA (genes) from their parents. Some rare inherited conditions increase the risk of RMS (and usually some other tumors as well): Members of families with Li-Fraumeni syndrome are more likely to develop sarcomas (including RMS), breast cancer, leukemia, and some other cancers. Children with Beckwith-Wiedemann syndrome have a high risk of developing Wilms tumor, a type of kidney cancer, but they are also more likely to develop RMS and some other types of childhood cancer. Neurofibromatosis type 1, also known as von Recklinghausen disease, usually causes multiple nerve tumors (especially in nerves of the skin), but it also increases the risk of RMS. Costello syndrome is very rare. Children with this syndrome have high birth weights but then fail to grow well and are short. They also tend to have a large head. They are prone to develop RMS as well as some other tumors. Noonan syndrome is a condition in which children tend to be short, have heart defects, and can be slower than typical children in developing physical skills and learning things. They are also at higher risk for RMS.

• #31 Rhabdomyosarcoma | Symptoms & Treatment | Children with Cancer UK

  http://www.childrenwithcancer.org.uk/childhood-cancer-info/cancer-types/sarcoma/soft-tissues-sarcoma/rhabdomyosarcoma/

  Rhabdomyosarcoma (also known as RMS) is a type of sarcoma cancer that affects the muscles that are attached to the bone. […] The causes of RMS are unknown although children with certain rare genetic disorders, such as Li Fraumeni syndrome, have a higher risk of developing RMS. […] Rhabdomyosarcoma in children is the most common type of soft tissue sarcoma to occur in childhood accounting for 6% of child cancer rates.

• #32

  https://www.orthobullets.com/pathology/8059/rhabdomyosarcoma

  Rhabdomyosarcomas are malignant tumors of the primitive mesenchyme that come in 4 sub-types: embryonal, alveolar, botryoid, and pleomorphic. […] Four sub-types of rhabdomyosarcoma: Embryonal occurs in infants and young children. […] Alveolar occurs in adolescents and young adults. […] Botryoid occurs in infants and young children, typically in the vagina, aka Sarcoma botryoides or „bunch of grapes.” […] Pleomorphic tends to occur in older patients 40-70yrs. […] Alveolar rhabdomyosarcoma has a common t(2;13) translocation that forms Pax3-FKHR fusion protein and is associated with a high risk metastatic disease. […] Nodal metastasis are known to occur with rhabdomyosarcoma. […] Bone marrow metastases have been shown to portend a worse prognosis.

• #33 Rhabdomyosarcoma | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/rhabdomyosarcoma/

  Rhabdomyosarcoma begins when a cell develops changes in its deoxyribonucleic acid (DNA). A cell’s DNA contains instructions on how that cell forms and functions. Changes in DNA are known as mutations. These mutated cells result in a tumor when they grow and multiply too quickly. The mass of these mutated cells grow and spread, or metastasize, to other tissues in the body. It is not known why these cells develop changes in the DNA and cause the cell to mutate and grow at a rapid rate. […] Rhabdomyosarcoma is rare, with about 450 children being diagnosed in the U.S. each year. RMS tends to occur primarily during two different age ranges. These age groups generally correspond to two different pathologic subtypes of RMS. Children ages 2 to 6 years old generally are affected by embryonal RMS. Although embryonal RMS can begin anywhere in the body, it is more likely to start in the head or neck area, in the urinary system, such as the bladder, in the reproductive system such as the vagina, uterus and testes, or in the arms and legs. Children ages 10 to 18 are generally affected by alveolar RMS.

• #34 Rhabdomyosarcoma

  https://sales-demo.adam.com/content.aspx?productid=617&isarticlelink=false&pid=1&gid=001429

  Rhabdomyosarcoma can occur in many places in the body. The most common sites are the head or neck, the urinary or reproductive system, and the arms or legs. […] The cause of rhabdomyosarcoma is unknown. It is a rare tumor with only several hundred new cases per year in the United States. […] Some children with certain birth defects are at an increased risk. Some families have a gene mutation that increases this risk. Most children with rhabdomyosarcoma do not have any known risk factors.

• #35 Rhabdomyosarcoma | Symptoms & Treatment | Children with Cancer UK

  http://www.childrenwithcancer.org.uk/childhood-cancer-info/cancer-types/sarcoma/soft-tissues-sarcoma/rhabdomyosarcoma/

  Rhabdomyosarcoma (also known as RMS) is a type of sarcoma cancer that affects the muscles that are attached to the bone. […] The causes of RMS are unknown although children with certain rare genetic disorders, such as Li Fraumeni syndrome, have a higher risk of developing RMS. […] Rhabdomyosarcoma in children is the most common type of soft tissue sarcoma to occur in childhood accounting for 6% of child cancer rates.

• #36 Gene That Causes Deadliest Brain Tumor Also Causes Childhood Cancer

  https://newsroom.uvahealth.com/2022/07/27/gene-that-causes-deadliest-brain-tumor-also-causes-childhood-cancer/

  Rhabdomyosarcoma is an aggressive form of cancer that typically strikes children under 18. […] The new discovery may open the door to the first targeted treatments for two types of rhabdomyosarcoma, a cancer of the soft tissue that primarily strikes young children. […] We accumulated multiple lines of evidence supporting [the gene] AVIL is powerful driver for both major types of rhabdomyosarcoma, said researcher Hui Li, PhD, of the University of Virginia School of Medicines Department of Pathology and UVA Cancer Center. […] Malfunctions in AVIL, Li and his team found, play an essential role in the development of the two main subtypes of rhabdomyosarcoma. […] They ultimately label AVIL a bona fide oncogene for rhabdomyosarcoma. […] AVIL may be the convergence point for two different cellular processes that cause soft-tissue cells to become cancerous, the researchers note.

• #37 Gene That Causes Deadliest Brain Tumor Also Causes Childhood Cancer

  https://newsroom.uvahealth.com/2022/07/27/gene-that-causes-deadliest-brain-tumor-also-causes-childhood-cancer/

  Rhabdomyosarcoma is an aggressive form of cancer that typically strikes children under 18. […] The new discovery may open the door to the first targeted treatments for two types of rhabdomyosarcoma, a cancer of the soft tissue that primarily strikes young children. […] We accumulated multiple lines of evidence supporting [the gene] AVIL is powerful driver for both major types of rhabdomyosarcoma, said researcher Hui Li, PhD, of the University of Virginia School of Medicines Department of Pathology and UVA Cancer Center. […] Malfunctions in AVIL, Li and his team found, play an essential role in the development of the two main subtypes of rhabdomyosarcoma. […] They ultimately label AVIL a bona fide oncogene for rhabdomyosarcoma. […] AVIL may be the convergence point for two different cellular processes that cause soft-tissue cells to become cancerous, the researchers note.

• #38 Gene That Causes Deadliest Brain Tumor Also Causes Childhood Cancer

  https://newsroom.uvahealth.com/2022/07/27/gene-that-causes-deadliest-brain-tumor-also-causes-childhood-cancer/

  Blocking the activity of AVIL, they found, prevented the formation of rhabdomyosarcoma in both cell samples in lab dishes and in mouse models of the disease. […] The new research also reveals that AVIL is excessively active in other cancers of the soft tissue, known as sarcomas. […] These findings plus our previous work in brain tumor suggest that AVIL is an oncogene that, when over-activated, may trigger the development of multiple cancer types, Li said.

• #39 Gene That Causes Deadliest Brain Tumor Also Causes Childhood Cancer

  https://newsroom.uvahealth.com/2022/07/27/gene-that-causes-deadliest-brain-tumor-also-causes-childhood-cancer/

  Blocking the activity of AVIL, they found, prevented the formation of rhabdomyosarcoma in both cell samples in lab dishes and in mouse models of the disease. […] The new research also reveals that AVIL is excessively active in other cancers of the soft tissue, known as sarcomas. […] These findings plus our previous work in brain tumor suggest that AVIL is an oncogene that, when over-activated, may trigger the development of multiple cancer types, Li said.

• #40 Spindle Cell / Sclerosing Rhabdomyosarcoma – SFA

  https://curesarcoma.org/sarcoma-subtypes/spindle-cell-sclerosing-rhabdomyosarcoma/

  Spindle cell / sclerosing rhabdomyosarcoma is a variant of rhabdomyosarcoma characterized by spindle-shaped or densely sclerotic tumor cells, often involving genetic rearrangements. […] Unknown […] The genetic abnormalities identified in spindle cell / sclerosing rhabdomyosarcoma can be categorized into three groups. […] The first group, congenital/infantile spindle cell rhabdomyosarcoma, shows gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes. […] The second group, which comprises most spindle cell / sclerosing rhabdomyosarcomas in adolescents and young adults, as well as a subset of tumors in older adults, shows the presence of MYOD1 p.Leu122Arg gene mutation. […] The third group of spindle cell / sclerosing rhabdomyosarcoma shows no recurrent identifiable genetic alterations.

• #41 Understanding adult rhabdomyosarcoma: Types, prognosis and treatment | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/understanding-adult-rhabdomyosarcoma–types–prognosis-and-treatment.h00-159773289.html

  Rhabdomyosarcoma can appear almost anywhere in the body, but the most common locations are the head and neck, genitourinary system (urinary and genital organs), and extremities (arms and legs). […] More than 90% of rhabdomyosarcoma cases happen suddenly. So, we don’t really know what causes it. We do know certain inherited genetic conditions put you at a higher risk of developing rhabdomyosarcoma. They include: Li-Fraumeni Syndrome, TP53 gene mutation, Neurofibromatosis type 1 (NF1), and Hereditary retinoblastoma. […] Adult rhabdomyosarcoma tends to have a poorer prognosis than childhood rhabdomyosarcoma. We’re not entirely sure why that is, but we think it may be because: Pleomorphic rhabdomyosarcoma is a unique subtype, patients are often diagnosed with later-stage or advanced disease, and there is less unification around treatment. We don’t know if adults can tolerate the treatment as well as children. […] We know that having that fusion leads to a worse prognosis, so we will often use different treatments on those patients.

• #42 Childhood Rhabdomyosarcoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/soft-tissue-sarcoma/hp/rhabdomyosarcoma-treatment-pdq

  The COG reviewed the correlation between anaplastic histology and germline TP53 pathogenic variants in 239 patients with rhabdomyosarcoma. […] The prognosis for children or adolescents with rhabdomyosarcoma is related to many clinical and biological factors, including the following: Age. […] The alveolar subtype of childhood rhabdomyosarcoma is more prevalent among patients with less favorable clinical features (e.g., younger than 1 year or older than 10 years, extremity and truncal primary tumors, and metastatic disease at diagnosis). […] Approximately 80% of rhabdomyosarcoma cases morphologically defined as alveolar rhabdomyosarcoma express a FOXO1 fusion. […] The specific fusion partner may have prognostic impact. […] Children with metastatic disease at diagnosis have the worst prognosis.

• #43 Childhood Rhabdomyosarcoma Treatment (PDQ®) – NCI

  https://www.cancer.gov/types/soft-tissue-sarcoma/hp/rhabdomyosarcoma-treatment-pdq

  Lymph node involvement at diagnosis is seen in about 23% of patients with rhabdomyosarcoma and is associated with an inferior prognosis. […] The COG performed a retrospective analysis of patients with rhabdomyosarcoma who had bone marrow metastasis at initial presentation and were treated in COG protocols. […] The presence of TP53 variants was associated with reduced EFS in both nonrisk-stratified and risk-stratified analyses for both a COG and a U.K. rhabdomyosarcoma cohort.

• #44

  https://www.orthobullets.com/pathology/8059/rhabdomyosarcoma

  Rhabdomyosarcomas are malignant tumors of the primitive mesenchyme that come in 4 sub-types: embryonal, alveolar, botryoid, and pleomorphic. […] Four sub-types of rhabdomyosarcoma: Embryonal occurs in infants and young children. […] Alveolar occurs in adolescents and young adults. […] Botryoid occurs in infants and young children, typically in the vagina, aka Sarcoma botryoides or „bunch of grapes.” […] Pleomorphic tends to occur in older patients 40-70yrs. […] Alveolar rhabdomyosarcoma has a common t(2;13) translocation that forms Pax3-FKHR fusion protein and is associated with a high risk metastatic disease. […] Nodal metastasis are known to occur with rhabdomyosarcoma. […] Bone marrow metastases have been shown to portend a worse prognosis.

• #45 Understanding adult rhabdomyosarcoma: Types, prognosis and treatment | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/understanding-adult-rhabdomyosarcoma–types–prognosis-and-treatment.h00-159773289.html

  Rhabdomyosarcoma can appear almost anywhere in the body, but the most common locations are the head and neck, genitourinary system (urinary and genital organs), and extremities (arms and legs). […] More than 90% of rhabdomyosarcoma cases happen suddenly. So, we don’t really know what causes it. We do know certain inherited genetic conditions put you at a higher risk of developing rhabdomyosarcoma. They include: Li-Fraumeni Syndrome, TP53 gene mutation, Neurofibromatosis type 1 (NF1), and Hereditary retinoblastoma. […] Adult rhabdomyosarcoma tends to have a poorer prognosis than childhood rhabdomyosarcoma. We’re not entirely sure why that is, but we think it may be because: Pleomorphic rhabdomyosarcoma is a unique subtype, patients are often diagnosed with later-stage or advanced disease, and there is less unification around treatment. We don’t know if adults can tolerate the treatment as well as children. […] We know that having that fusion leads to a worse prognosis, so we will often use different treatments on those patients.

• #46 Rhabdomyosarcoma in childhood, adolescence, and adulthood: Treatment – UpToDate

  https://www.uptodate.com/contents/rhabdomyosarcoma-in-childhood-adolescence-and-adulthood-treatment

  Rhabdomyosarcomas (RMS) are malignant soft tissue tumors that are thought to originate from immature cells and myogenic satellite cells that are destined to form striated skeletal muscle; however, these tumors can arise in locations where skeletal muscle is not typically found (eg, the urinary bladder). […] By contrast, with the use of modern combined modality therapy, over 70 percent of children with localized RMS can be cured of their disease. […] These improved outcomes are the direct result of multimodality therapeutic protocols that have been developed by large international cooperative groups, such as the Intergroup Rhabdomyosarcoma Study Group (IRSG, or the Soft Tissue Sarcoma Committee of the Children’s Oncology Group [COG]).

• #47 Rhabdomyosarcoma in childhood, adolescence, and adulthood: Treatment – UpToDate

  https://www.uptodate.com/contents/rhabdomyosarcoma-in-childhood-adolescence-and-adulthood-treatment

  Rhabdomyosarcomas (RMS) are malignant soft tissue tumors that are thought to originate from immature cells and myogenic satellite cells that are destined to form striated skeletal muscle; however, these tumors can arise in locations where skeletal muscle is not typically found (eg, the urinary bladder). […] By contrast, with the use of modern combined modality therapy, over 70 percent of children with localized RMS can be cured of their disease. […] These improved outcomes are the direct result of multimodality therapeutic protocols that have been developed by large international cooperative groups, such as the Intergroup Rhabdomyosarcoma Study Group (IRSG, or the Soft Tissue Sarcoma Committee of the Children’s Oncology Group [COG]).

• #48 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  Rhabdomyosarcoma (RMS) is a malignant soft tissue sarcoma that is believed to originate from primitive mesenchymal cells that typically differentiate into skeletal tissue. […] The etiology and risk factors remain largely unknown. Most cases of rhabdomyosarcoma are sporadic; however, the disease can be associated with familial syndromes. […] Although the etiology of rhabdomyosarcoma is largely unknown, there is evidence of an underlying genetic component because a chromosomal translocation has been identified in many RMS tumors, and RMS has been associated with several inherited cancer syndromes (eg, Noonan, Li-Fraumeni, Beckwith-Wiedemann, and Costello. […] An increased risk of developing RMS is also seen with other factors, including fetal radiation exposure, parental drug use, family history of RMS in a first-degree relative, preterm birth, fertility drug use, and history of congenital defects.

• #49 What Causes Rhabdomyosarcoma?| Causes of Rhabdomyosarcoma | American Cancer Society

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

  The cause of most cases of rhabdomyosarcoma (RMS) is not well understood, and there are very few known risk factors for this type of cancer. […] Researchers now understand many of the gene changes that can lead to RMS, but it’s still not clear what causes these changes. Some gene changes can be inherited from a parent. Others might just be a random event that sometimes happens inside a cell, without having an outside cause. There are no known lifestyle-related or environmental causes of RMS, so it’s important to know that there is nothing children with RMS or their parents could have done to prevent these cancers.

• #50 Rhabdomyosarcoma – Wikipedia

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

  In most cases, there are no clear predisposing risk factors for the development of RMS. It tends to occur sporadically with no obvious cause. However, RMS has been correlated with familial cancer syndromes and congenital abnormalities including neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, cardio-facio-cutaneous syndrome, and Costello syndrome. It has also been associated with parental use of cocaine and marijuana.

• #51 Gene That Causes Deadliest Brain Tumor Also Causes Childhood Cancer

  https://newsroom.uvahealth.com/2022/07/27/gene-that-causes-deadliest-brain-tumor-also-causes-childhood-cancer/

  Rhabdomyosarcoma is an aggressive form of cancer that typically strikes children under 18. […] The new discovery may open the door to the first targeted treatments for two types of rhabdomyosarcoma, a cancer of the soft tissue that primarily strikes young children. […] We accumulated multiple lines of evidence supporting [the gene] AVIL is powerful driver for both major types of rhabdomyosarcoma, said researcher Hui Li, PhD, of the University of Virginia School of Medicines Department of Pathology and UVA Cancer Center. […] Malfunctions in AVIL, Li and his team found, play an essential role in the development of the two main subtypes of rhabdomyosarcoma. […] They ultimately label AVIL a bona fide oncogene for rhabdomyosarcoma. […] AVIL may be the convergence point for two different cellular processes that cause soft-tissue cells to become cancerous, the researchers note.

• #52 Gene That Causes Deadliest Brain Tumor Also Causes Childhood Cancer

  https://newsroom.uvahealth.com/2022/07/27/gene-that-causes-deadliest-brain-tumor-also-causes-childhood-cancer/

  Blocking the activity of AVIL, they found, prevented the formation of rhabdomyosarcoma in both cell samples in lab dishes and in mouse models of the disease. […] The new research also reveals that AVIL is excessively active in other cancers of the soft tissue, known as sarcomas. […] These findings plus our previous work in brain tumor suggest that AVIL is an oncogene that, when over-activated, may trigger the development of multiple cancer types, Li said.

• #53 Rhabdomyosarcoma | Texas Children’s

  https://www.texaschildrens.org/content/conditions/rhabdomyosarcoma

  Rhabdomyosarcoma (RMS) is a cancerous tumor that originates in the soft tissues of the body, including the muscles, tendons, and connective tissues. […] It is believed that some rhabdomyosarcoma tumors begin developing in the fetus. Rhabdomyoblasts are the cells that will mature and develop into muscles. There has been much research into the gene structure of these rhabdomyoblasts and possible detection of a gene error that can produce the disease later in development. […] Rhabdomyosarcomas usually have some type of chromosome abnormality in the cells of the tumor, which are responsible for the tumor formation. In children with an embryonal rhabdomyosarcoma (ERMS), there are usually extra chromosome copies, known as hyperdiploidy, which can be seen with other pediatric cancers. For alveolar rhabdomyosarcoma (ARMS), a rearrangement in the chromosome material between chromosomes 1 or 2 and chromosome 13 is usually present. This rearrangement changes the position and function of genes, causing a fusion of genes referred to as a fusion transcript. Patients have an abnormal fusion transcript involving two genes known as PAX7 or PAX3 and FKHR. This important discovery has led to improvements in diagnosing rhabdomyosarcoma.

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