Extraskeletal Ewing sarcoma: Difference between revisions
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{{Infobox medical condition | |||
| name = Extraskeletal Ewing sarcoma | |||
| synonyms = [[Ewing's sarcoma]], [[Peripheral primitive neuroectodermal tumor]] (pPNET) | |||
| field = [[Oncology]] | |||
| symptoms = [[Pain]], [[swelling]], [[fever]], [[fatigue]] | |||
| complications = [[Metastasis]], [[recurrence]] | |||
| onset = Typically in [[adolescents]] and [[young adults]] | |||
| duration = Variable, depending on treatment response | |||
| causes = [[Genetic mutations]], specifically [[EWSR1-FLI1]] translocation | |||
| risks = [[Family history]], [[genetic predisposition]] | |||
| diagnosis = [[Biopsy]], [[imaging studies]] such as [[MRI]] and [[CT scan]] | |||
| differential = [[Osteosarcoma]], [[rhabdomyosarcoma]], [[lymphoma]] | |||
| prevention = None known | |||
| treatment = [[Chemotherapy]], [[radiation therapy]], [[surgery]] | |||
| prognosis = Depends on stage and response to treatment; generally poor if metastatic | |||
| frequency = Rare, with an incidence of 1-2 cases per million per year | |||
}} | |||
== Extraskeletal Ewing Sarcoma == | == Extraskeletal Ewing Sarcoma == | ||
Extraskeletal Ewing sarcoma (EES) is a rare and aggressive form of cancer that originates in the soft tissues outside of the bone. It is part of the Ewing sarcoma family of tumors, which also includes [[Ewing sarcoma]] of the bone and [[Askin tumor]]. | Extraskeletal Ewing sarcoma (EES) is a rare and aggressive form of cancer that originates in the soft tissues outside of the bone. It is part of the Ewing sarcoma family of tumors, which also includes [[Ewing sarcoma]] of the bone and [[Askin tumor]]. | ||
=== Epidemiology === | === Epidemiology === | ||
EES is a rare condition, accounting for a small percentage of all Ewing sarcoma cases. It primarily affects children and young adults, with a peak incidence between the ages of 10 and 20. The disease shows a slight male predominance. | EES is a rare condition, accounting for a small percentage of all Ewing sarcoma cases. It primarily affects children and young adults, with a peak incidence between the ages of 10 and 20. The disease shows a slight male predominance. | ||
=== Pathophysiology === | === Pathophysiology === | ||
EES is characterized by the presence of small round blue cells, similar to those found in [[Ewing sarcoma]] of the bone. The tumor is often associated with a specific chromosomal translocation, t(11;22)(q24;q12), which results in the EWSR1-FLI1 fusion gene. This genetic alteration is a hallmark of the Ewing sarcoma family of tumors. | EES is characterized by the presence of small round blue cells, similar to those found in [[Ewing sarcoma]] of the bone. The tumor is often associated with a specific chromosomal translocation, t(11;22)(q24;q12), which results in the EWSR1-FLI1 fusion gene. This genetic alteration is a hallmark of the Ewing sarcoma family of tumors. | ||
=== Clinical Presentation === | === Clinical Presentation === | ||
Patients with EES typically present with a rapidly growing mass in the soft tissues. Common sites include the trunk, extremities, and retroperitoneum. Symptoms may include pain, swelling, and occasionally systemic symptoms such as fever and weight loss. | Patients with EES typically present with a rapidly growing mass in the soft tissues. Common sites include the trunk, extremities, and retroperitoneum. Symptoms may include pain, swelling, and occasionally systemic symptoms such as fever and weight loss. | ||
=== Diagnosis === | === Diagnosis === | ||
The diagnosis of EES involves a combination of imaging studies, histopathological examination, and molecular testing. Imaging techniques such as MRI and CT scans are used to assess the extent of the tumor. A biopsy is necessary to confirm the diagnosis, and molecular testing can identify the characteristic EWSR1-FLI1 fusion gene. | The diagnosis of EES involves a combination of imaging studies, histopathological examination, and molecular testing. Imaging techniques such as MRI and CT scans are used to assess the extent of the tumor. A biopsy is necessary to confirm the diagnosis, and molecular testing can identify the characteristic EWSR1-FLI1 fusion gene. | ||
=== Treatment === | === Treatment === | ||
The treatment of EES typically involves a multimodal approach, including surgery, chemotherapy, and radiation therapy. The specific treatment plan depends on the size, location, and extent of the tumor, as well as the patient's overall health. Chemotherapy regimens often include agents such as vincristine, doxorubicin, cyclophosphamide, and ifosfamide. | The treatment of EES typically involves a multimodal approach, including surgery, chemotherapy, and radiation therapy. The specific treatment plan depends on the size, location, and extent of the tumor, as well as the patient's overall health. Chemotherapy regimens often include agents such as vincristine, doxorubicin, cyclophosphamide, and ifosfamide. | ||
=== Prognosis === | === Prognosis === | ||
The prognosis for patients with EES varies depending on several factors, including the size and location of the tumor, the presence of metastases, and the response to treatment. Overall, the prognosis is similar to that of [[Ewing sarcoma]] of the bone, with a 5-year survival rate of approximately 50-70% for localized disease. | The prognosis for patients with EES varies depending on several factors, including the size and location of the tumor, the presence of metastases, and the response to treatment. Overall, the prognosis is similar to that of [[Ewing sarcoma]] of the bone, with a 5-year survival rate of approximately 50-70% for localized disease. | ||
=== Research and Future Directions === | === Research and Future Directions === | ||
Ongoing research is focused on improving the understanding of the molecular biology of EES and developing targeted therapies. Clinical trials are exploring the use of novel agents and immunotherapies to improve outcomes for patients with this rare disease. | Ongoing research is focused on improving the understanding of the molecular biology of EES and developing targeted therapies. Clinical trials are exploring the use of novel agents and immunotherapies to improve outcomes for patients with this rare disease. | ||
== See Also == | == See Also == | ||
* [[Ewing sarcoma]] | * [[Ewing sarcoma]] | ||
* [[Askin tumor]] | * [[Askin tumor]] | ||
* [[Soft tissue sarcoma]] | * [[Soft tissue sarcoma]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
* [National Cancer Institute - Ewing Sarcoma](https://www.cancer.gov/types/bone/patient/ewing-treatment-pdq) | * [National Cancer Institute - Ewing Sarcoma](https://www.cancer.gov/types/bone/patient/ewing-treatment-pdq) | ||
* [American Cancer Society - Ewing Family of Tumors](https://www.cancer.org/cancer/ewing-tumor.html) | * [American Cancer Society - Ewing Family of Tumors](https://www.cancer.org/cancer/ewing-tumor.html) | ||
{{rare diseases}} | {{rare diseases}} | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Sarcoma]] | [[Category:Sarcoma]] | ||
[[Category:Pediatric oncology]] | [[Category:Pediatric oncology]] | ||
{{No image}} | |||
Latest revision as of 23:37, 3 April 2025
| Extraskeletal Ewing sarcoma | |
|---|---|
| Synonyms | Ewing's sarcoma, Peripheral primitive neuroectodermal tumor (pPNET) |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Pain, swelling, fever, fatigue |
| Complications | Metastasis, recurrence |
| Onset | Typically in adolescents and young adults |
| Duration | Variable, depending on treatment response |
| Types | N/A |
| Causes | Genetic mutations, specifically EWSR1-FLI1 translocation |
| Risks | Family history, genetic predisposition |
| Diagnosis | Biopsy, imaging studies such as MRI and CT scan |
| Differential diagnosis | Osteosarcoma, rhabdomyosarcoma, lymphoma |
| Prevention | None known |
| Treatment | Chemotherapy, radiation therapy, surgery |
| Medication | N/A |
| Prognosis | Depends on stage and response to treatment; generally poor if metastatic |
| Frequency | Rare, with an incidence of 1-2 cases per million per year |
| Deaths | N/A |
Extraskeletal Ewing Sarcoma[edit]
Extraskeletal Ewing sarcoma (EES) is a rare and aggressive form of cancer that originates in the soft tissues outside of the bone. It is part of the Ewing sarcoma family of tumors, which also includes Ewing sarcoma of the bone and Askin tumor.
Epidemiology[edit]
EES is a rare condition, accounting for a small percentage of all Ewing sarcoma cases. It primarily affects children and young adults, with a peak incidence between the ages of 10 and 20. The disease shows a slight male predominance.
Pathophysiology[edit]
EES is characterized by the presence of small round blue cells, similar to those found in Ewing sarcoma of the bone. The tumor is often associated with a specific chromosomal translocation, t(11;22)(q24;q12), which results in the EWSR1-FLI1 fusion gene. This genetic alteration is a hallmark of the Ewing sarcoma family of tumors.
Clinical Presentation[edit]
Patients with EES typically present with a rapidly growing mass in the soft tissues. Common sites include the trunk, extremities, and retroperitoneum. Symptoms may include pain, swelling, and occasionally systemic symptoms such as fever and weight loss.
Diagnosis[edit]
The diagnosis of EES involves a combination of imaging studies, histopathological examination, and molecular testing. Imaging techniques such as MRI and CT scans are used to assess the extent of the tumor. A biopsy is necessary to confirm the diagnosis, and molecular testing can identify the characteristic EWSR1-FLI1 fusion gene.
Treatment[edit]
The treatment of EES typically involves a multimodal approach, including surgery, chemotherapy, and radiation therapy. The specific treatment plan depends on the size, location, and extent of the tumor, as well as the patient's overall health. Chemotherapy regimens often include agents such as vincristine, doxorubicin, cyclophosphamide, and ifosfamide.
Prognosis[edit]
The prognosis for patients with EES varies depending on several factors, including the size and location of the tumor, the presence of metastases, and the response to treatment. Overall, the prognosis is similar to that of Ewing sarcoma of the bone, with a 5-year survival rate of approximately 50-70% for localized disease.
Research and Future Directions[edit]
Ongoing research is focused on improving the understanding of the molecular biology of EES and developing targeted therapies. Clinical trials are exploring the use of novel agents and immunotherapies to improve outcomes for patients with this rare disease.
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
- [National Cancer Institute - Ewing Sarcoma](https://www.cancer.gov/types/bone/patient/ewing-treatment-pdq)
- [American Cancer Society - Ewing Family of Tumors](https://www.cancer.org/cancer/ewing-tumor.html)
NIH genetic and rare disease info[edit]
Extraskeletal Ewing sarcoma is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
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Rare diseases - Extraskeletal Ewing sarcoma
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