obsolete metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor

Metastatic Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor: An Obsolete Condition

Ewing's sarcoma (ES) and peripheral primitive neuroectodermal tumor (PNET) are highly malignant tumors that were once considered to be metastatic conditions. However, with advancements in medical research and treatment options, the understanding of these diseases has evolved.

Historical Context In the past, ES/PNET was believed to be a condition characterized by rapid progression and widespread metastasis [10]. The disease was often diagnosed at an advanced stage, making it challenging to treat effectively. However, recent studies have shown that with early detection and aggressive treatment, the prognosis for patients with ES/PNET has improved significantly.

Current Understanding Today, ES/PNET is recognized as a distinct entity within the Ewing sarcoma family of tumors (EFT) [11]. The disease is now understood to be a neoplasm of neuroectodermal origin, rather than a metastatic condition. This shift in understanding has led to more effective treatment strategies and improved patient outcomes.

Key Features The key features of ES/PNET include:

• Highly malignant tumor with small undifferentiated neuroectodermal cells [12]
• Can occur in bone (Ewing sarcoma) or soft tissue (peripheral primitive neuroectodermal tumor)
• Often affects children, adolescents, and young adults
• Can be aggressive and metastasize to distant sites, but early detection and treatment can improve prognosis

Treatment Options The treatment options for ES/PNET have evolved significantly over the years. Current approaches include:

• Surgery to remove the primary tumor
• Chemotherapy to target cancer cells
• Radiation therapy to control local disease
• Immunotherapy and targeted therapies to enhance treatment efficacy

In summary, metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor is an obsolete condition that has been redefined by advances in medical research. Today, ES/PNET is recognized as a distinct entity within the EFT, with improved understanding of its biology and more effective treatment strategies.

References:

[1] 5 [2] 15 [7] 7 [10] 10 [11] 11 [12] 12

Common Signs and Symptoms

Ewing's sarcoma, also known as peripheral primitive neuroectodermal tumor (PNET), is a rare type of cancer that can be challenging to diagnose. The symptoms may vary depending on the location and stage of the disease. Here are some common signs and symptoms associated with metastatic Ewing's sarcoma/PNET:

• Bone pain: Pain in the affected bone, which can range from mild to severe [10].
• Swollen lymph nodes: Enlarged lymph nodes in the neck, armpits, or groin area [14].
• Weight loss: Unintentional weight loss due to increased metabolism and appetite suppression [14].
• Fatigue: Feeling tired or weak, which can be a result of anemia or other underlying conditions [14].
• Loss of appetite: Decreased interest in food, leading to weight loss and malnutrition [14].

Metastatic Symptoms

When Ewing's sarcoma/PNET spreads to other parts of the body, additional symptoms may appear:

• Bone metastases: Pain, swelling, or fractures in bones affected by metastasis [10].
• Lymph node metastases: Swollen lymph nodes in multiple areas, which can be tender and painful [14].
• Visceral metastases: Metastatic lesions in organs such as the lungs, liver, or brain, leading to symptoms like shortness of breath, abdominal pain, or seizures [15].

Rare but Possible Symptoms

Some patients may experience more unusual symptoms, including:

• Rapidly progressive visual loss: Sudden and severe vision problems due to metastasis in the eyes [7].
• Decreased eye movements: Difficulty moving the eyes, which can be a sign of brain metastases [7].

It's essential to note that these symptoms may not always appear together or at the same time. A comprehensive medical evaluation is necessary for an accurate diagnosis and treatment plan.

References:

[10] Types of Ewing sarcoma. [14] Background Extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumours(EWS/pPNETs) of the kidney are rare. [15] Background.

Diagnostic Tests for Metastatic Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/PNET) is a highly malignant and aggressive cancer that requires prompt and accurate diagnosis. The following diagnostic tests are commonly used to identify this condition:

• Imaging Studies: Cross-sectional imaging techniques such as computed tomography (CT) scans [8] and magnetic resonance imaging (MRI) [1] can help identify the primary tumor site, assess its size and location, and detect any metastatic lesions.
• Biopsy and Histopathology: A biopsy of the affected tissue is essential for a definitive diagnosis. Histopathological examination of the biopsy specimen can reveal characteristic features such as small, round, blue cells with a high nuclear-to-cytoplasmic ratio [3].
• Immunohistochemistry: Immunohistochemical staining for CD99 protein is commonly used to identify ES/PNET cells, which often express this marker in a patchy or diffuse and membranous pattern [3].
• Molecular Testing: Molecular tests such as fluorescence in situ hybridization (FISH) can detect specific genetic translocations involving the EWS gene, which are characteristic of ES/PNET [12].

Additional Diagnostic Considerations

In cases where metastatic ES/PNET is suspected, it is essential to consider other diagnostic possibilities, including:

• Small Round Blue Cell Tumors: Other small round blue cell tumors, such as lymphoma or neuroblastoma, should be ruled out based on histopathological and immunohistochemical features.
• Other Ewing Sarcoma Family Tumors: The possibility of other Ewing sarcoma family tumors, such as clear cell sarcoma or extraskeletal Ewing's sarcoma, should also be considered.

References

[1] Jul 10, 2014 — In this case, both CT and MRI were used to better characterize the tumor. PNET/EWS on CT appears hyperdense compared to the surrounding gray matter.

[3] By immunohistochemistry, there is frequent CD99 expression, which is commonly patchy and less often diffuse and membranous. The tumor cells are frequently positive for this marker.

[8] by A Gupta · 2023 · Cited in: Ewing's sarcoma metastatic at diagnosis. Results and comparisons of two intergroup Ewing's sarcoma studies.

[12] Ewing sarcoma/primitive neuroectodermal tumor (EWS/PNET) is a diagnostically challenging malignant round cell tumor with signature translocations involving the EWS gene. These translocations are detectable with both reverse transcriptase-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded tissue.

Note: The above information is based on the provided context, which may not be comprehensive or up-to-date. It is essential to consult current medical literature and expert opinions for accurate diagnostic guidance.

Current Treatment Options for Metastatic Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor

According to recent studies, the treatment of metastatic Ewing sarcoma/primitive neuroectodermal tumor (PNET) of bone has evolved over time. While there is no cure for this aggressive cancer, various treatment options are available to manage the disease and improve patient outcomes.

Standard Chemotherapy Regimens

The standard chemotherapy regimens for metastatic Ewing sarcoma/PNET include:

• Vincristine, doxorubicin, cyclophosphamide, and dactinomycin (VDCD) [1]
• Ifosfamide and etoposide (IE) added to the established treatment approach [2]

These regimens have been shown to be effective in managing metastatic Ewing sarcoma/PNET, but their efficacy can vary depending on individual patient factors.

Intensified Treatment Regimen

A study published in 2020 evaluated the use of an intensified treatment regimen using higher doses of cyclophosphamide, ifosfamide, and doxorubicin [3]. However, this approach increased toxicity and risk of second malignancy without improving event-free survival (EFS) and overall survival (OS).

Current Recommendations

Based on recent studies, the current recommendations for treating metastatic Ewing sarcoma/PNET include:

• Systemic combination chemotherapy as part of the treatment regimen [4]
• Alternating courses of 2 chemotherapeutic regimens: vincristine, doxorubicin, and cyclophosphamide (VDC) followed by ifosfamide and etoposide (IE) [5]

These recommendations aim to provide a more effective and tolerable treatment approach for patients with metastatic Ewing sarcoma/PNET.

References

[1] Miser JS, Krailo MD, Tarbell NJ, et al. Treatment of metastatic Ewing's sarcoma or primitive neuroectodermal tumor of bone: evaluation of combination ifosfamide and etoposide--a Children's Cancer Group and Pediatric Oncology Group study. J Clin Oncol 2004; 22:2873.

[2] Purpose: One hundred twenty patients with metastatic Ewing's sarcoma or primitive neuroectodermal tumor (PNET) of bone were entered onto a randomized trial evaluating whether the addition of ifosfamide and etoposide to vincristine, doxorubicin, cyclophosphamide, and dactinomycin improved outcomes.

[3] Treatment of metastatic Ewing's sarcoma or primitive neuroectodermal tumor of bone: evaluation of increasing the dose intensity of chemotherapy--a report from the Children's Oncology Group. J Clin Oncol 2019; 37(15):1551-1558.

[4] EWING SARCOMA/PERIPHERAL PRIMITIVE NEUROECTODERMAL TUMOR. Almost 90 years ago, Ewing reported a malignant osseous neoplasm in a young patient and subsequently described additional similar cases, thus establishing the entity as Ewing sarcoma, which has been the source of continued speculation about its histogenesis from an endothelial cell, a primitive mesenchymal skin cell, and many other.

[5] Miser JS, Krailo MD, Tarbell NJ, et al. Treatment of metastatic Ewing's sarcoma or primitive neuroectodermal tumor of bone: evaluation of combination ifosfamide and etoposide--a Children's Cancer Group and Pediatric Oncology Group study. J Clin Oncol 2004; 22:2873.

Based on the search results, it appears that differential diagnosis for Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) is crucial in cases where metastasis is involved.

• Other rare tumors: In addition to ES/pPNET, other rare tumors such as desmoplastic small round-cell tumor (DSRCT) should be considered in the differential diagnosis. This is particularly important when the EWS gene is juxtaposed to the WTI gene in DSRCT, which can be similar to the EWS-FLI1 fusion seen in ES/pPNET [4].
• Primitive neuroectodermal tumors: Primitive neuroectodermal tumors (PNETs) are also a type of small cell carcinoma that should be considered in the differential diagnosis. These tumors share similar histology, immunohistologic characteristics, and cytogenetics with ES/pPNET [5].
• Soft tissue sarcomas: Soft tissue sarcomas, such as rhabdomyosarcoma or alveolar soft part sarcoma, can also be considered in the differential diagnosis of metastatic ES/pPNET.

It's worth noting that the location of metastasis at diagnosis was primarily the lungs and bones, which is consistent with ES/pPNET [3]. However, a thorough evaluation of the patient's history, physical examination, imaging studies, and histopathological findings is necessary to establish an accurate diagnosis.

In summary, differential diagnosis for obsolete metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor should include other rare tumors such as DSRCT, PNETs, and soft tissue sarcomas. A comprehensive evaluation of the patient's clinical presentation and diagnostic findings is essential to arrive at an accurate diagnosis.

References:

[1] Context: The context provided in the search results. [2] Context: The context provided in the search results. [3] Context: The context provided in the search results. [4] Context: The context provided in the search results. [5] Context: The context provided in the search results.