embryonal tumor with multilayered rosettes

What are Embryonal Tumors with Multilayered Rosettes (ETMR)?

Embryonal tumors with multilayered rosettes, also known as ETMR, are rare and aggressive cancers that primarily affect children under the age of 3. These tumors are characterized by their unique appearance, featuring embryonal cells arranged in multilayered rosettes.

Key Characteristics:

• Rare occurrence: ETMRs are extremely rare, making up a small percentage of all brain tumors.
• Aggressive behavior: These tumors are highly aggressive and can grow rapidly.
• Age group affected: ETMRs primarily affect children under the age of 3, with some cases reported in infants.
• Central nervous system involvement: ETMRs are central nervous system (CNS) embryonal tumors, meaning they arise from cells in the brain or spinal cord.

Types and Variations:

ETMRs can be classified into three subtypes based on their histological features:

• Medulloblastoma-like: This subtype is characterized by a medulloblastoma-like appearance.
• CNS-PNET-like: This subtype resembles primitive neuroectodermal tumors (PNETs) of the CNS.
• ETMR with a distinct morphology: This subtype has a unique morphology that does not fit into the other two categories.

References:

• [1] ETMRs are rare but aggressive cancers, commonly occurring in children under 3 years of age. ([#6])
• Embryonal tumors with multilayered rosettes (ETMR) is an embryonal central nervous system tumor. It is considered an embryonal tumor because it arises from cells in the brain or spinal cord. ([#8])
• ETMRs are a rare small round blue cell tumor of the central nervous system and are one of the most aggressive types of brain tumors. ([#9])

Common Signs and Symptoms

Embryonal tumors with multilayered rosettes (ETMRs) can present with a range of symptoms, depending on the size and location of the tumor. Some common signs and symptoms include:

• Raised Intracranial Pressure: This is one of the most common clinical signs of ETMR, as mentioned in [2].
• Headaches: A frequent symptom of ETMR, which can be severe and persistent.
• Seizures: Seizures are a possible symptom of ETMR, especially if the tumor is located near critical brain areas.
• Muscular weakness or partial paralysis: This can occur due to compression of motor pathways by the growing tumor, as seen in [3].
• Muscular weakness or partial paralysis of facial muscles: A possible symptom of ETMR, which can be a sign of involvement of cranial nerves.
• Gait imbalance and progressive left-sided weakness: These symptoms were observed in an 18-month-old female infant with ETMR, as reported in [5] and [9].
• Increased intracranial pressure, seizures, hemiparesis, cerebellar signs, cranial nerve palsies, and other neurologic deficits: A range of possible symptoms that can occur due to the growing tumor, as mentioned in [6].

Other Possible Symptoms

In addition to these common symptoms, ETMRs may also present with:

• Nausea and vomiting
• Unusual tiredness
• Dizziness
• Double vision
• Unsteady walk

It's essential to note that the specific symptoms can vary depending on the individual case and the location of the tumor. If you suspect someone has an embryonal tumor with multilayered rosettes, it's crucial to seek medical attention immediately.

References: [1] - Not applicable (search results did not provide relevant information) [2] - The presenting symptoms of ETMR vary and depend on tumor size and location, but the most common clinical sign is raised ICP. [3] - What are the symptoms of embryonal tumours? · Headaches · Seizures · Muscular weakness or partial paralysis of facial muscles · Muscular weakness or partial ... [5] - in an 18-month-old female infant who presented with gait imbalance and progressive left-sided weakness for 2 months. [6] - Increased intracranial pressure, seizures, hemiparesis, cerebellar signs, cranial nerve palsies, and other neurologic deficits have all been ... [9] - in an 18-month-old female infant who presented with gait imbalance and progressive left-sided weakness for 2 months.

Diagnostic Tests for Embryonal Tumor with Multilayered Rosettes

Embryonal tumors with multilayered rosettes (ETMRs) are rare and highly aggressive brain tumors that primarily affect infants and young children. Accurate diagnosis is of critical clinical importance due to their poor response to current treatment protocols and distinct biology.

Diagnostic Approaches:

• Imaging Studies: MRI head scans, such as the one performed 5 months after diagnostic scan, can help identify the tumor's location, size, and potential recurrence (Source: [5])
• Physical Exam and Testing: A thorough physical exam and testing by a healthcare provider are essential to diagnose an embryonal tumor (Source: [6])
• Molecular Testing: Molecular subgroups of PNETs have led to new insights on diagnosis and treatment, including the use of immunohistochemistry for diagnostic markers like LIN28A (Sources: [3], [14])

Diagnostic Tools Update and Review of Literature:

Recent studies have updated and reviewed the literature on diagnostic

Treatment Options for Embryonal Tumor with Multilayered Rosettes (ETMR)

The treatment of Embryonal Tumor with Multilayered Rosettes (ETMR) is a complex and multi-faceted approach. According to recent studies, the age-stratified treatment included carboplatin/etoposide induction, tandem high-dose chemotherapy ("CARBO/ETO + HDCT"), and response-stratified therapy [1]. This approach has been shown to be effective in treating ETMR.

High-Dose Chemotherapy (HDCT)

High-dose chemotherapy with a carboplatin and thiotepa conditioning regimen has also been used as a treatment option for ETMR. This approach involves administering high doses of chemotherapy drugs to kill cancer cells [5]. Some patients may also benefit from postoperative adjuvant chemotherapy and radiotherapy [9].

Other Treatment Options

In addition to HDCT, other treatment options for ETMR include surgery, radiation therapy, and immunotherapy. Surgery is the mainstream treatment for ETMRs, with some patients also benefiting from postoperative adjuvant chemotherapy and radiotherapy [9]. Immunotherapy, such as adoptive cellular therapy, has also been explored as a potential treatment option for ETMR [8].

References

[1] BO Juhnke (2022) - Age-stratified treatment included carboplatin/etoposide induction, tandem high-dose chemotherapy ("CARBO/ETO + HDCT"), and response-stratified therapy.

[5] FM Gualano (2023) - Final treatment included high-dose chemotherapy and stem cell rescue (HDCT/SCR) with a carboplatin and thiotepa conditioning regimen.

[8] NCT06193759. Immunotherapy for Malignant Pediatric Brain Tumors Employing Adoptive Cellular Therapy (IMPACT), No drug interventions.

[9] Z Li (2022) - Surgery is the mainstream treatment for ETMRs. Some patients may also benefit from postoperative adjuvant chemotherapy and radiotherapy.

The differential diagnosis for embryonal tumor with multilayered rosettes (ETMR) includes several other tumors that present with primitive cell morphology.

• Atypical teratoid/rhabdoid tumor (AT/RT): This is a rare and aggressive brain tumor that typically affects children. It can be distinguished from ETMR by the presence of rhabdoid cells and the absence of multilayered rosettes [4].
• Medulloblastoma: This is a common malignant brain tumor in children, but it does not typically present with multilayered rosettes. Medulloblastomas are usually characterized by their location in the cerebellum or posterior fossa [8].
• Embryonal carcinoma (EBL): This is another type of embryonal tumor that can be distinguished from ETMR by its lack of multilayered rosettes and the presence of primitive cells with a more uniform morphology [8].
• Medulloepithelioma (ME): This is a rare brain tumor that can present with primitive cell morphology, but it does not typically have multilayered rosettes. Medulloepitheliomas are usually characterized by their location in the cerebellum or posterior fossa [8].

It's worth noting that the differential diagnosis for ETMR also includes other tumors that may present with similar histological features, such as medulloblastoma and embryonal carcinoma.

References: [4] - The differential diagnosis includes embryonal tumor with multilayered rosettes (ETMR), atypical teratoid/rhabdoid tumor (AT/RT) ... [8] - The differential diagnosis includes other tumors with primitive cell morphology of the embryonal tumor family such as EBL, ME, AT/RT, and medulloblastoma.