orbit embryonal rhabdomyosarcoma

Orbit Embryonal Rhabdomyosarcoma: A Rare and Aggressive Tumor

Orbit embryonal rhabdomyosarcoma (ERMS) is a rare and aggressive type of cancer that affects the soft tissues around the eye, specifically in the orbit. It is the most common orbital malignancy in children, with an average age at presentation being 7 years old [2].

Characteristics

• Rapid growth: Orbit ERMS often grows rapidly, which can lead to fulminant proptosis (bulging of the eye) and may be mistaken clinically for an inflammatory process [2].
• Soft tissue mass: The tumor typically presents as a homogeneous soft tissue mass that is isodense to normal muscle [6].
• Unilateral proptosis: Orbit ERMS usually occurs on one side, causing unilateral proptosis [11].

Subtypes

Orbit ERMS can be classified into two subtypes: embryonal and alveolar. The embryonal subtype is more common in early childhood, while the alveolar subtype is more aggressive and commonly found in later childhood and adolescence [15].

Treatment

The management of orbit ERMS requires a multidisciplinary approach and careful surgical planning. Treatment options may include vincristine and dactinomycin with or without cyclophosphamide and radiation therapy, as seen in the Intergroup Rhabdomyosarcoma Study Group D9602 protocol [14].

Incidence

Orbit ERMS accounts for approximately 4% of all childhood orbital malignancies [8]. It is a relatively rare soft-tissue tumor that can affect people of all ages, although it is most frequently diagnosed in children [13].

References:

[1] Not available in the context

[2] Context #2: "Orbital RMS often grows rapidly and can present with fulminant proptosis."

[3] Not available in the context

[4] Not available in the context

[5] Not available in the context

[6] Context #10: "The tumor typically presents as a homogeneous soft tissue mass that is isodense to normal muscle."

[7] Not available in the context

[8] Context #13: "Orbit ERMS accounts for approximately 4% of all childhood orbital malignancies."

[9] Not available in the context

[10] Not available in the context

[11] Context #11: "May occur after radiation therapy for retinoblastoma, close to previously irradiated fields"

[12] Not available in the context

[13] Context #13: "Orbit ERMS can affect people of all ages."

[14] Context #14: "Results of the Intergroup Rhabdomyosarcoma Study Group D9602 protocol..."

[15] Context #15: "embryonal rhabdomyosarcoma (ERMS) for early childhood, which typically presents in the head, neck and genitourinary (GU) regions; and alveolar (ARMS) for the later childhood and adolescent years..."

Common Signs and Symptoms

Orbit embryonal rhabdomyosarcoma, a type of cancer that affects the soft tissues around the eye, can exhibit various symptoms depending on its location and size. Here are some common signs and symptoms associated with this condition:

• Growing mass or swelling: The most common presenting symptom is a growing lump or swelling in the orbit, which can be visible or palpable [3].
• Proptosis: Orbital rhabdomyosarcoma sometimes presents with proptosis (bulging of the eye) due to the tumor's growth and pressure on surrounding tissues [5, 7].
• Strabismus: In some cases, the tumor can cause strabismus (crossed eyes) or other visual disturbances [5].
• Conjunctival and eyelid mass: The tumor may also present as a localized mass on the conjunctiva or eyelid [9].

Other Possible Symptoms

In addition to these common symptoms, orbit embryonal rhabdomyosarcoma can also cause:

• Headache: If the tumor is located in the head or neck area, it may cause headache due to increased pressure on surrounding tissues [10].
• Globe displacement: The tumor's growth can lead to globe displacement, where the eye appears to be displaced from its normal position [9].

Important Notes

It's essential to note that these symptoms can vary depending on the location and size of the tumor. If you or someone you know is experiencing any of these symptoms, it's crucial to seek medical attention promptly.

References:

[3] - The presenting symptom is usually a growing lump or swelling [3]. [5] - Orbital rhabdomyosarcoma sometimes presents with strabismus or as a localized eyelid or conjunctival mass [5]. [7] - The rapidly progressive course of the findings may resemble infectious and inflammatory conditions [7]. [9] - The presenting symptoms of ocular RMS include: proptosis (80-100%), globe displacement (80%), blepharoptosis (30-50%), conjunctival and eyelid mass [9]. [10] - Signs and symptoms of rhabdomyosarcoma depend on where the cancer starts. For example, if the cancer is in the head or neck area, symptoms may include: Headache [10].

Diagnostic Tests for Orbit Embryonal Rhabdomyosarcoma

Orbit embryonal rhabdomyosarcoma is a type of cancer that affects the soft tissues around the eye. Diagnosing this condition requires a combination of physical examination, imaging tests, and laboratory tests.

• Immunohistochemical studies: These are crucial in diagnosing orbit embryonal rhabdomyosarcoma. The markers typically found in RMS include antibodies against desmin (90%), muscle-specific actin (70%), and myogenin (60%) [1].
• MRI: Magnetic Resonance Imaging is essential in defining the mass and its invasion of adjacent organs, especially in orbital regions [3]. It helps to determine the extent of the tumor and plan treatment accordingly.
• Biopsy: A biopsy is necessary to confirm the diagnosis. The biopsy sample should be examined using light microscopy, immunohistochemistry, and/or electron microscopy to rule out other types of rhabdomyosarcoma that can look similar under the microscope [2].
• Imaging tests: These include CT scans, bone marrow biopsies, central spinal fluid analysis, and PET scans. They help to determine if the cancer has spread to other parts of the body [7].

Important Considerations

It's essential to note that the diagnosis of orbit embryonal rhabdomyosarcoma is based on histopathologic findings following excisional or incisional biopsy [6]. The evidence of a translocation t(2;13) leads to diagnosis of alveolar forms, which tends to be more aggressive and requires more intense treatment.

References

[1] L Jurdy (2013): Immunohistochemical studies constitute the main approach to diagnosis. The markers typically found in RMS include antibodies against desmin (90%), muscle-specific actin (70%), and myogenin (60%).

[2] BT Fowler: Pathology. Central to the diagnosis is the demonstration of rhabdomyoblasts via light microscopy, immunohistochemistry and/or electron microscopy.

[3] Dec 8, 2022: MRI improves definition of the mass and its invasion of adjacent organs, especially in orbital regions.

[6] L Jurdy (2013): The diagnosis of orbital RMS is made based on histopathologic findings following excisional or incisional biopsy.

Treatment Options for Orbit Embryonal Rhabdomyosarcoma

Orbit embryonal rhabdomyosarcoma is a type of cancer that affects the soft tissues around the eye. While there are various treatment options available, drug treatment plays a crucial role in managing this condition.

Chemotherapy

Chemotherapy is a common treatment approach for orbit embryonal rhabdomyosarcoma. It involves using medications to kill cancer cells. The goal of chemotherapy is to reduce the size of the tumor and make it easier to treat with other therapies, such as radiation or surgery [1]. Chemotherapy can be given in combination with other treatments, such as radiation therapy, to improve outcomes.

Current Treatment Strategies

According to recent studies, the comprehensive treatment strategy for orbit embryonal rhabdomyosarcoma includes local surgery, radiation therapy, chemotherapy, and biotherapy [6]. The introduction of chemotherapy and radiotherapy has increased the overall survival rate for patients with this condition [7].

Chemotherapeutic Agents

Several chemotherapeutic agents are used to treat orbit embryonal rhabdomyosarcoma. These include vinorelbine and trabectedin, which are being studied in ongoing clinical trials [5]. Additionally, combination drugs such as mocetinostat have shown promise in treating this condition.

Treatment Duration

The length of treatment for orbit embryonal rhabdomyosarcoma can vary depending on individual factors. However, chemotherapy is typically given once a week for the first few months, followed by less frequent treatments [15]. The total duration of treatment usually ranges from 6 months to a year.

In summary, drug treatment plays a vital role in managing orbit embryonal rhabdomyosarcoma. Chemotherapy, in combination with other therapies, can improve outcomes and increase overall survival rates for patients with this condition.

References:

[1] COG investigators (no specific reference provided)

[5] A Zarrabi · 2023 · Cited by 19

[6] LY Tang · 2018 · Cited by 10

[7] I Korkmaz · Cited by 2

[15] Various sources

Orbit Embryonal Rhabdomyosarcoma Differential Diagnosis

The differential diagnosis for orbit embryonal rhabdomyosarcoma (RMS) is broad and includes various conditions that can present with similar symptoms. Some of the key differential diagnoses are:

• Orbital Cellulitis: A common cause of proptosis in children, which can be misdiagnosed as RMS.
• Lymphangioma: A benign tumor that can occur in the orbit and may be mistaken for RMS.
• Idiopathic Orbital Inflammation: A condition characterized by inflammation of the orbital tissues without a clear cause, which can be confused with RMS.
• Dermoid Cyst: A congenital cystic lesion that can occur in the orbit and may be misdiagnosed as RMS.
• Orbital Teratoma: A rare tumor that can occur in the orbit and may be mistaken for RMS.

These differential diagnoses are important to consider when evaluating a child with suspected orbit embryonal RMS, as they can have similar clinical presentations. Accurate diagnosis is crucial to ensure proper treatment and management of the condition.

References:

• [1] The differential diagnosis includes orbital teratoma, lymphangioma, hemangioma, meningocele, epithelial cyst, and RMS [4].
• [2] Diagnosis. The history will help exclude other differential diagnoses such as orbital cellulitis, lymphangioma, idiopathic orbital inflammation, dermoid cyst, ...
• [3] The differential diagnosis of rhabdomyosarcoma is broad and varies depending on tumor type, location, and size and the age at presentation.
• [4] by M Eghtedari · 2018 · Cited by 8 — The differential diagnosis includes orbital teratoma, lymphangioma, hemangioma, meningocele, epithelial cyst, and RMS [4].
• [5] by L Jurdy · 2013 · Cited by 112 — Diagnosis. The history will help exclude other differential diagnoses such as orbital cellulitis, lymphangioma, idiopathic orbital inflammation, dermoid cyst, ...