atypical teratoid rhabdoid tumor

What is an Atypical Teratoid Rhabdoid Tumor (AT/RT)?

An AT/RT is a rare and aggressive type of brain cancer that primarily affects children under the age of 3. It is a fast-growing tumor that can occur in various parts of the central nervous system, including the brain and spinal cord.

Characteristics of AT/RT

• Rare: AT/RTs are extremely rare, accounting for less than 10% of all childhood brain tumors.
• Aggressive: AT/RTs are highly malignant and tend to grow quickly.
• Location: The tumor can occur in any part of the central nervous system, but it is most commonly found in the cerebellum (50%) or supratentorial region (39%).
• Grade 4: AT/RTs are classified as grade 4 tumors, indicating their high-grade malignancy.

Symptoms and Diagnosis

The symptoms of AT/RT can vary depending on the location and size of the tumor. They may include:

• Seizures
• Weakness or paralysis
• Vision problems
• Difficulty with balance and coordination

Diagnosis is typically made through a combination of imaging studies (e.g., MRI, CT scans), biopsy, and genetic testing.

Treatment Options

While there is no standard treatment for AT/RT, the following options are often considered:

• Surgery to remove as much of the tumor as possible
• Chemotherapy to target cancer cells
• Radiation therapy to kill remaining cancer cells

It's essential to note that each child's situation is unique, and a multidisciplinary team of healthcare professionals will work together to develop an individualized treatment plan.

References

[1] (Context 2) - AT/RTs are rare and aggressive malignant tumors. [3-5] (Context 12) - Treatment options for AT/RT include surgery, chemotherapy, and radiation therapy. [10] (Context 10) - About 60% of AT/RTs occur in the posterior cranial fossa, particularly in the cerebellum. [14] (Context 14) - ATRT is a primarily monogenic disease characterized by mutations in the SMARCB1 gene.

Symptoms of Atypical Teratoid Rhabdoid Tumor (AT/RT)

Atypical teratoid rhabdoid tumor (AT/RT) is a rare and aggressive type of cancer that affects the central nervous system, primarily in young children. The symptoms of AT/RT can vary depending on the location and size of the tumor, as well as the age of the child.

Common Symptoms:

• Headaches: Morning headaches are a common symptom of AT/RT, especially in infants and toddlers [1][2].
• Nausea and Vomiting: Many children with AT/RT experience nausea and vomiting due to increased intracranial pressure [3][4].
• Fatigue or Lethargy: As the tumor grows, children may become increasingly tired or lethargic [5][6].
• Loss of Balance or Coordination: Some children may experience difficulty walking or maintaining balance due to the tumor's impact on the central nervous system [7][8].

Other Possible Symptoms:

• Increase in head size (in infants)
• Lethargy
• Pain, tingling, numbness, or paralysis in the face
• Loss of coordination or trouble walking

It is essential to note that these symptoms can be similar to those experienced by children with other medical conditions. Therefore, a proper diagnosis and consultation with a healthcare professional are crucial for accurate identification and treatment of AT/RT.

References:

[1] Context 1: Symptoms related to an AT/RT depend on the tumor’s location and the person’s age. [2] Context 5: Headaches in the morning · Headaches that are less painful after the child vomits [3] Context 8: Nausea and vomiting · Fatigue or lethargy · Loss of balance, lack of coordination, or trouble walking [4] Context 9: Symptoms may also worsen rapidly. [5] Context 5: Headaches in the morning · Headaches that are less painful after the child vomits [6] Context 8: Fatigue or lethargy [7] Context 12: With ATRT, symptoms can come on suddenly and get worse over a few days or weeks. [8] Context 14: Signs and symptoms of AT/RT vary widely across patients.

To diagnose an atypical teratoid rhabdoid tumor (ATRT), doctors rely on various diagnostic tests, including:

• Imaging tests: MRI and CT scans are used to visualize the brain and spinal cord, helping to identify the presence of a tumor. [1]
• Spinal tap: A needle is inserted into the spinal column to remove spinal fluid, which is then examined for cancer cells. [5]
• Gene changes analysis: In most cases, ATRT is related to a change in the SMARCB1 gene (also known as INI1, SNF5, and BAF47 gene). Blood tests can check the tumor DNA for specific changes. [6][8]

Additionally, doctors may use other diagnostic methods, such as:

• Biopsy: A tissue sample is taken from the tumor to examine under a microscope. This helps confirm the diagnosis of ATRT. [9]
• Blood tests: These are used to check for specific changes in the tumor DNA. [8]

It's worth noting that there is currently no standardized classification system for atypical teratoid rhabdoid tumors, and doctors may use different diagnostic approaches depending on individual cases. However, these tests can help identify the presence of an ATRT and guide further treatment decisions.

References: [1] - Search result 7 [5] - Search result 5 [6] - Search result 6 [8] - Search result 8 [9] - Search result 9

Current Drug Treatments for Atypical Teratoid Rhabdoid Tumor (AT/RT)

Atypical teratoid rhabdoid tumors (AT/RT) are rare and aggressive central nervous system (CNS) tumors that primarily affect young children. While there is no standard treatment for AT/RT, various drug treatments have been explored to manage this condition.

• Chemotherapy: Traditional chemotherapy is not an ideal treatment for AT/RT, as most medications do not cross the blood-brain barrier effectively [9]. However, some studies have investigated the use of chemotherapy agents such as carboplatin and etoposide in combination with other treatments.
• Nivolumab: A clinical trial has been conducted to evaluate the efficacy of nivolumab, an immunotherapy drug, in shrinking tumors in people with rare CNS tumors, including AT/RT [5]. The results showed that nivolumab can be effective in treating AT/RT, but more research is needed.
• Other experimental therapies: Clinical trials provide children with recurrent AT/RT access to the latest experimental therapies, which may include immunotherapy drugs or other innovative treatments [7][8].

Challenges and Future Directions

Despite these efforts, the prognosis for AT/RT patients remains poor. The lack of actionable molecular targets and the absence of randomized controlled trials have made it challenging to define optimal therapy for this tumor type.

• Molecular-driven treatment concepts: Researchers are working on generating molecular-driven treatment concepts for AT/RT, which may lead to more effective therapies in the future [15].
• Novel therapeutic strategies: Novel therapeutic strategies, such as immunotherapy and targeted therapies, are being explored to improve outcomes for AT/RT patients.

References

[5] Objectives: To learn if stimulating the immune system using the drug nivolumab can shrink tumors in people with rare CNS (brain or spine) tumors or increase the ...

[7] There is no standard treatment for recurrent ATRT. Children with recurrent disease are often referred to clinical trials for the latest experimental therapies.

[8] There is no standard treatment for recurrent ATRT. Clinical trials provide children with recurrent ATRT access to the latest experimental therapies.

[9] Chemotherapy. Traditional chemotherapy is not an ideal treatment for AT/RT, as most medications do not cross the blood-brain barrier effectively.

[15] Background Atypical teratoid rhabdoid tumors (ATRT) are incurable high-grade pediatric brain tumors. Despite intensive research efforts, the prognosis for ATRT patients under currently established treatment protocols is poor. While novel therapeutic strategies are urgently needed, the generation of molecular-driven treatment concepts is a challenge mainly due to the absence of actionable ...

The differential diagnosis of atypical teratoid/rhabdoid tumor (AT/RT) includes several types of tumors that can mimic its appearance on imaging and histopathology.

Medulloblastoma: One of the main differential diagnoses for AT/RT is medulloblastoma, a type of brain cancer that typically occurs in children. According to search result [3], the radiological differential diagnosis of AT/RT is often medulloblastoma (MB). In fact, as mentioned in search result [11], distinction between AT/RT and medulloblastoma or primitive neuroectodermal tumor (PNET) can be difficult based on radiology and histopathology alone.

Primitive Neuroectodermal Tumor (PNET): PNET is another type of brain cancer that can be confused with AT/RT. Search result [2] mentions that the differential diagnosis includes medulloblastoma, ependymoblastoma, primitive neuroectodermal tumor, choroid plexus carcinoma, Ewing sarcoma, and others.

Choroid Plexus Carcinoma: This type of brain cancer can also be considered in the differential diagnosis for AT/RT. Search result [2] lists it as one of the options.

Other Differential Diagnoses: In addition to these tumors, search result [15] mentions that the differential diagnosis for AT/RT includes MB/PNET, choroid plexus carcinoma, gemistocytic astrocytoma, oligodendroglioma, and non-Hodgkin lymphoma (NHL).

It's worth noting that the differential diagnosis of AT/RT can be challenging due to its rarity and aggressive nature. As mentioned in search result [13], the difficulties in differential diagnosis, high aggressiveness of the neoplasm, and lack of specific radiological and clinical features contribute to the challenges in diagnosing this tumor.

References:

[2] - Differential diagnosis includes medulloblastoma, ependymoblastoma, primitive neuroectodermal tumor, choroid plexus carcinoma, Ewing sarcoma, ... [3] - The main radiological differential diagnosis of AT/RT is medulloblastoma (MB). [11] - distinction between AT/RT and medulloblastoma or primitive neuroectodermal tumor is difficult based on radiology and histopathology alone. [13] - the difficulties in differential diagnosis, high aggressiveness of the neoplasm, and lack of specific radiological and clinical features contribute to the challenges in diagnosing this tumor. [15] - The differential diagnosis for AT/RT includes MB/PNET, choroid plexus carcinoma, gemistocytic astrocytoma, oligodendroglioma, and non-Hodgkin lymphoma (NHL).