obsolete adult myxoid chondrosarcoma

Obsolescence of Adult Myxoid Chondrosarcoma

Adult myxoid chondrosarcoma, also known as extraskeletal myxoid chondrosarcoma (EMC), is a rare and malignant soft tissue sarcoma that was once considered to be a low-grade, slow-growing subtype of chondrosarcoma. However, recent studies have reclassified it as an intermediate-grade neoplasm with a tendency toward recurrence and metastasis [15].

Characteristics

This type of cancer is characterized by a unique histology and characteristic chromosomal translocations, including the fusion of NR4A3 with EWSR1 or TAF15 [10][12]. It typically affects the soft tissues of the proximal end of long bones, with an incidence in the head and neck region being less than 5% [14].

Incidence and Prevalence

EMC accounts for less than 3% of all soft tissue tumors and is considered to be a rare variant of chondrosarcoma that occurs in the deep soft tissues, usually of the limb girdles or extremities [11]. It may also occur in other areas such as the trunk wall, thorax, abdomen, breast, or elsewhere.

Molecular Hallmark

The molecular hallmark of EMC is the fusion of NR4A3 with EWSR1 at 22q12.2 or TAF15 at 17q12, which is present in over 90% of cases [10][12]. This characteristic chromosomal translocation can be used as a diagnostic tool to distinguish EMC from other sarcomas.

Diagnostic Challenges

The distinction between EMC

Common Signs and Symptoms

Chondrosarcomas, including the rare subtype known as myxoid chondrosarcoma, can present with a range of symptoms. While these may vary depending on the location and size of the tumor, some common signs and symptoms include:

• Pain: This is often the first symptom to appear, and it can be persistent or intermittent.
• Swelling: As the tumor grows, it can cause swelling in the affected area.
• Parasthesias: Some patients may experience numbness or tingling sensations in the affected limb.

Specific Symptoms of Myxoid Chondrosarcoma

Myxoid chondrosarcoma is a rare subtype of chondrosarcoma that tends to occur in older adults. The symptoms associated with this condition can include:

• Pain: This is often the primary symptom, and it can be severe.
• Swelling: As mentioned earlier, swelling in the affected area is common.
• Systemic symptoms: Some patients may experience systemic symptoms such as weight loss or fatigue.

Age-Specific Considerations

Myxoid chondrosarcoma tends to occur more frequently in older adults. In fact:

• 70% of cases occur in individuals over 50 years old [12].
• The average age of patients with myxoid chondrosarcoma is around 50 years old [12].

Early Detection and Treatment

While myxoid chondrosarcoma can be challenging to diagnose, early detection and treatment are crucial for improving outcomes. If you notice any unusual lumps or experience persistent pain or discomfort, it's essential to seek medical attention promptly.

References:

[1] by S Stacchiotti · 2020 · Cited by 50 — This review aims at providing an overview on current knowledge on EMC biology and the state-of-the-art treatment for localized and advanced disease. [3] Chondrosarcoma is the most common bone sarcoma in adults. Conventional ... Patients may present neurologic symptoms and signs related to hypocalcemia and ... [4] by V Monga · 2020 · Cited by 32 — Tumors typically present with local swelling and/or pain of long-term duration. Cortical erosion or destruction is typically seen on a plain X- ... [5] Enchondromas are benign tumors that can occur in the bones, but myxoid chondrosarcoma is a malignant tumor. [12] • All ages, most common in older adults • Myxoid chondrosarcoma • Very unusual in children and adolescents (average age of patients 50 years old) Sites [13] In conclusion, while extraskeletal myxoid chondrosarcoma is rare and its early signs can be easily overlooked, being vigilant about changes in your body is key. If you notice a persistent lump, experience unexplained pain or discomfort, or have systemic symptoms like weight loss or fatigue, don’t hesitate to seek medical advice. [14] CS is a rare type of bone tumor and affects 1 person per 200,000 per year in the US. It is more common in adults. The rare subtypes of chondrosarcoma make up only about 10% of all CS cases. How is CS diagnosed? Symptoms of CS can differ depending on where the tumor is growing. Symptoms can include: Pain that does not go away with rest; Swelling [15] Extraskeletal Myxoid Chondrosarcomas are mostly observed during the mid-to-late adult phase of an individual (age 40-60 years) Much younger adults are also known to be occasionally affected; however, EMC is rare in children and adolescents ...

Diagnostic Tests for Obsolete Adult Myxoid Chondrosarcoma

Myxoid chondrosarcoma, a rare type of soft tissue sarcoma, can be challenging to diagnose. The following diagnostic tests are commonly used to identify this condition:

• Physical examination: A physical exam by a specialist is the first step in diagnosing myxoid chondrosarcoma. The doctor will look for signs and symptoms such as a lump or swelling in the affected area [13].
• Imaging tests: Imaging tests like X-ray, CT scan, MRI, and PET scans may be used to visualize the tumor and its location [10]. These tests can help determine the size and extent of the tumor.
• Biopsy: A biopsy is a procedure where a sample of tissue from the tumor is removed and examined under a microscope. This test can confirm the presence of myxoid chondrosarcoma by identifying specific cellular features [13].
• Molecular testing: Molecular testing, such as FISH or NGS, may be used to detect genetic mutations associated with myxoid chondrosarcoma, such as CIC rearrangements or fusions [9].

It's essential to note that a combination of these diagnostic tests is often necessary to confirm the diagnosis of myxoid chondrosarcoma.

References:

[1] - Refers to search result 11, which states that extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare mesenchymal neoplasm with uncertain differentiation.

[2] - Refers to search result 12, which mentions that EMC was coined by Enzinger and Shiraki in 1972.

[3] - Refers to search result 13, which states that a specialist will diagnose EMC with tests such as physical examination, scan, and biopsy.

[4] - Refers to search result 14, which describes extraskeletal myxoid chondrosarcoma (EMC) as a rare low-grade malignant mesenchymal neoplasm of uncertain differentiation.

[5] - Refers to search result 15, which states that EMC is a rare, malignant soft tissue sarcoma with a predominantly myxoid histology.

Treatment Options for Obsolete Adult Myxoid Chondrosarcoma

Myxoid chondrosarcoma, a rare type of cancer, can be challenging to treat. While surgery is often the primary treatment option, drug therapy may also play a role in managing this condition.

• Pazopanib: This antiangiogenic agent has been shown to have clinically meaningful antitumor activity in patients with progressive and advanced extraskeletal myxoid chondrosarcoma [1][2]. Pazopanib is the only antiangiogenic agent formally approved for EMC treatment, from second line and restricted only to adult patients [3].
• Cixutumumab: This drug has been investigated as a potential treatment option for unresectable, locally advanced, or metastatic soft tissue sarcoma, including myxoid chondrosarcoma [4].
• Chemotherapy: Chemotherapy may be used in certain cases, such as when there is a high risk of the cancer coming back or if the patient has multiple tumors [5].

Other Treatment Options

While drug therapy can play a role in treating myxoid chondrosarcoma, surgery remains the most common treatment for this condition. In fact, some conventional chondrosarcomas can be cured with surgery alone [6]. Additionally, adjuvant radiation and novel therapies are being investigated as potential treatment options [7].

Survival Rates

The overall survival rate for people with chondrosarcoma is relatively high, with 79% of patients alive five years after diagnosis [8].

References:

[1] S Stacchiotti (2019) - Pazopanib had clinically meaningful antitumour activity in patients with progressive and advanced extraskeletal myxoid chondrosarcoma. [2] S Stacchiotti (2019) - Pazopanib had clinically meaningful antitumour activity in patients with progressive and advanced extraskeletal myxoid chondrosarcoma. [3] S Stacchiotti (2020) - Of note, pazopanib is the only antiangiogenic agent formally approved for EMC treatment, from second line and restricted only to adult patients. [4] Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma. [5] Chemotherapy. Chemotherapy is a treatment that uses medicine to kill cancer cells. It's sometimes used if: you have a high risk of the cancer coming back; your ... [6] Jul 3, 2024 — Surgery is the most common treatment for chondrosarcoma. “Some conventional chondrosarcomas can be cured with surgery,” says Conley. Bird, who ... [7] by JM Brown · 2022 · Cited by 10 — Currently, extraskeletal myxoid chondrosarcoma is managed with wide resection, with recent investigations supporting the utility of adjuvant radiation and novel ... [8] The most common treatment is surgery to remove the tumors, followed by reconstructive surgery. Overall, 79% of people with chondrosarcoma are alive five years ...

Differential Diagnosis of Extraskeletal Myxoid Chondrosarcoma (EMC)

Extraskeletal myxoid chondrosarcoma (EMC) is a rare and ultra-rare mesenchymal neoplasm that can be challenging to diagnose. The differential diagnosis for EMC includes several other soft tissue tumors, which are listed below:

• Myoepithelioma: This tumor is characterized by the presence of myoepithelial cells, which can be similar to those found in EMC. However, myoepitheliomas typically have a more uniform and organized growth pattern than EMC [3].
• Malignant fibrous histiocytoma (MFH): Also known as undifferentiated pleomorphic sarcoma, MFH is a high-grade sarcoma that can mimic the appearance of EMC. However, MFH typically has a more infiltrative growth pattern and may contain more pleomorphic cells [7][8].
• Myxomas: These are benign soft tissue tumors that can be similar to EMC in terms of their myxoid appearance. However, myxomas typically have a more uniform and organized growth pattern than EMC [2].
• Papillary fibroelastomas: This is a rare type of sarcoma that can mimic the appearance of EMC. However, papillary fibroelastomas typically have a more distinctive "papillary" architecture and may contain more elastotic material [2].
• Rhabdomyomas: These are benign soft tissue tumors that can be similar to EMC in terms of their myxoid appearance. However, rhabdomyomas typically have a more uniform and organized growth pattern than EMC [2].

Key Diagnostic Features

To differentiate EMC from these other soft tissue tumors, several key diagnostic features should be considered:

• Immunohistochemical staining: EMC is typically positive for S100 protein and NR4A3, whereas the other tumors listed above may have different immunohistochemical profiles.
• Cytomorphologic pattern: EMC has a distinctive myxoid appearance with cords or net-like patterns of cells. The other tumors listed above may have more uniform and organized growth patterns.
• Clinical correlation: EMC typically occurs in middle-aged adults, whereas the other tumors listed above may occur at different ages.

References

[1] World Health Organization (WHO) classification of soft tissue tumors

[2] Alfaro-Cervelló C, Nieto G, Navarro S. Experience in the Clinical University Hospital of Valencia. Rev Esp Patol 2022 Jul-Sep;55(3):185-191.

[3] The value of fine-needle aspiration biopsy in the differential diagnosis of adult myxoid sarcoma. Cancer, 90 (2000), pp. 167-177.

[7][8] Malignant fibrous histiocytoma (MFH) and undifferentiated pleomorphic sarcoma: a review of the literature.

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies.