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childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered

Description

Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered

A childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered is a rare and aggressive type of brain cancer that primarily affects children. This tumor entity was recently defined and classified as a highly malignant neural crest tumor.

Key Characteristics:

  • Age Group: Typically affects children under the age of 3 years [8].
  • Location: Originates from the supratentorial region of the brain, which is located above the tentorium cerebelli [1].
  • Histological Features: Characterized by multilayered rosettes, a distinctive histopathological feature that helps in its diagnosis [2][3].
  • Genetic Alteration: C19MC-altered, indicating a specific genetic mutation associated with this tumor type [4].

Clinical Presentation:

Children with embryonal tumors with multilayered rosettes, C19MC-altered often present with symptoms such as:

  • Seizures
  • Vomiting
  • Headache
  • Weakness or paralysis of the face or limbs

These symptoms can vary in severity and may be accompanied by other signs of increased intracranial pressure.

Prognosis:

Unfortunately, embryonal tumors with multilayered rosettes, C19MC-altered are highly aggressive and have a poor prognosis. They tend to grow rapidly and can spread to other parts of the brain or spinal cord, making treatment challenging [5][6].

References:

[1] Xu K (2022) - Embryonal tumors with multilayered rosettes are a novel entity that is extremely rare and predominantly affects children aged ≤ 2 years old.

[2] Pei YC (2019) - Embryonal tumor with multilayered rosettes, C19MC-altered, is a newly defined and rare pediatric malignant tumor of the central nervous system (CNS).

[3] Meliti A (2022) - Embryonal tumor with multilayered rosettes, C19MC-altered, is a newly classified, embryonal pediatric CNS neoplasm.

[4] Dangouloff-Ros V (2019) - BACKGROUND AND PURPOSE: Embryonal tumors with multilayered rosettes, C19MC-altered, are brain tumors occurring in young children, which were clearly defined...

[5] Tariq MU (2017) - Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered is a recently described tumor entity included in the latest update (revised...

[6] Chadda KR (2023) - Embryonal tumors with multilayered rosettes (ETMR) are rare but aggressive cancers, commonly occurring in children under 3 years of age.

Note: The above information is based on the search results provided and may not be an exhaustive or definitive description of this tumor entity.

Additional Characteristics

  • A childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered
  • Typically affects children under the age of 3 years
  • Originates from the supratentorial region of the brain
  • Characterized by multilayered rosettes and C19MC-altered genetic mutation
  • Highly aggressive and have a poor prognosis

Signs and Symptoms

Common Clinical Manifestations

The most common clinical manifestations of childhood supratentorial embryonal tumor with multilayered rosettes (ETMR), C19MC-altered include:

  • Symptoms and signs of increased intracranial pressure:
    • Headache [1]
    • Nausea [6]
    • Visual disturbances [6]
  • Focal neurological signs:
    • Ataxia [4, 10]
    • Weakness [4, 9]

Additional Symptoms

Apart from symptoms of raised intracranial pressure, other symptoms may occur, including:

  • Paresis [10]
  • Seizures [10]
  • Visual impairment [10]
  • Torticollis [10]

Genomic Alterations

The genomic alterations associated with ETMR include a gain of chromosome 2, gain of chromosome 11, and gain/low-level amplification of 19q13.42 (ultimately resulting in TTYH1-C19MC) [3, 7].

Note: The information provided is based on the search results and may not be an exhaustive list of all possible symptoms and signs associated with childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered.

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered

The diagnosis of childhood supratentorial embryonal tumor with multilayered rosettes (ETMR), C19MC-altered, is a complex process that involves several diagnostic tests. Here are some of the key tests used to diagnose this rare and aggressive brain tumor:

  • Histopathologic Evaluation: This test involves examining tissue samples from the tumor under a microscope to look for characteristic features such as multilayered rosettes [1].
  • Immunohistochemistry (IHC): IHC is a laboratory technique that uses antibodies to detect specific proteins in tissue samples. In the case of ETMR, C19MC-altered, IHC can be used to detect the presence of certain proteins such as synaptophysin and vimentin [2].
  • Fluorescence In Situ Hybridization (FISH) Analysis: FISH is a laboratory technique that uses fluorescent probes to detect specific genetic abnormalities in cells. In the case of ETMR, C19MC-altered, FISH can be used to detect the presence of the C19MC aberration [4].
  • Molecular Testing: Molecular testing involves analyzing tissue samples or blood samples for specific genetic mutations or abnormalities. In the case of ETMR, C19MC-altered, molecular testing can be used to confirm the diagnosis and identify any potential genetic mutations [3].

It's worth noting that a combination of these tests is often required to confirm the diagnosis of ETMR, C19MC-altered.

References:

[1] KR Chadda · 2023 · Cited by 5 — GTR was achieved and a diagnosis of ETMR was made based on the presence of embryonal tumor cells with rosette features on morphology...

[2] YC Pei · 2019 · Cited by 16 — The integrated diagnosis should be based on histology (CNS embryonal tumor with multilayered rosettes), immunoreactivity (synaptophysin and vimentin, ...

[3] KR Chadda · 2023 · Cited by 5 — In most cases, however, morphological appearances are strongly suggestive of ETMR, and molecular testing is used to prove the diagnosis.

[4] K Xu · 2022 · Cited by 2 — Since C19MC aberration has been detected for more than two decades, the understanding of ETMRs biology has improved as well as better diagnostic tools...

Additional Diagnostic Tests

  • Molecular Testing
  • Immunohistochemistry (IHC)
  • Histopathologic Evaluation
  • Fluorescence In Situ Hybridization (FISH) Analysis

Treatment

Current Treatment Options for Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes (ETMR), C19MC-altered

While there is no standard treatment for ETMR, current treatment options include a combination of surgery, chemotherapy, and radiotherapy. The extent of surgical resection is also an important factor in determining the prognosis.

  • Surgery: Surgical resection is often the first line of treatment for ETMR. However, the extent of resection can vary depending on the location and size of the tumor [6].
  • Chemotherapy: Chemotherapy may be used in conjunction with surgery to treat ETMR. The most commonly used chemotherapeutic agents include vincristine, carboplatin, and etoposide [3].
  • Radiotherapy: Radiotherapy is also a common treatment option for ETMR, particularly in cases where the tumor has recurred or progressed despite chemotherapy [8].

Current Challenges in Treating ETMR

Despite advances in treatment options, ETMR remains a highly aggressive and challenging disease to treat. The lack of standardization in treatment protocols and the limited availability of clinical data make it difficult for clinicians to develop effective treatment plans.

  • Limited Clinical Data: There is currently a paucity of prospective clinical data on which to base clinical decision-making for ETMR [5].
  • High Recurrence Rate: ETMR has a high recurrence rate, even after intensive multimodal treatment approaches [4].

Future Directions in Treatment

Further research is needed to develop more effective and targeted treatments for ETMR. This may include the development of new chemotherapeutic agents or the use of immunotherapy.

  • New Chemotherapeutic Agents: The development of new chemotherapeutic agents that are specifically designed to target ETMR cells may improve treatment outcomes [1].
  • Immunotherapy: Immunotherapy, which involves using the body's own immune system to fight cancer, may also be a promising area of research for ETMR [2].

References:

[1] YC Pei (2019) - ETMR demonstrates rapid growth and is associated with an aggressive clinical course after combination therapies.

[2] BO Juhnke (2022) - Embryonal tumors with multilayered rosettes (ETMR) are highly aggressive tumors occurring in early childhood.

[3] C Brain (no date) - Treatment options for children with medulloblastoma and other central nervous system embryonal tumors include surgery, chemotherapy, ...

[4] FM Gualano (2023) - Despite an intensive multimodal treatment approach that includes surgical resection, high-dose chemotherapy, and radiotherapy, the progression-...

[5] KR Chadda (2023) - To date, there remains no standard treatment for ETMR and a paucity of prospective clinical data on which to base clinical decision-making.

[6] K Xu (2022) - The treatment now includes surgery, radiotherapy, and chemotherapy, but the prognosis of ETMRs remains poorer. In our analysis, the extent of surgical resection...

[7] A Meliti (2022) - Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered, is a newly classified, embryonal pediatric CNS neoplasm.

[8] M Sugawa (2022) - OBJECTIVE Embryonal tumor with multilayered rosettes (ETMR) is one of the childhood central nervous system tumors with the poorest prognosis...

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Differential Diagnosis

The differential diagnosis for a childhood supratentorial embryonal tumor with multilayered rosettes (ETMR), C19MC-altered, can vary depending on the location of the tumor. However, based on the available information, here are some possible conditions that should be considered in the differential diagnosis:

  • Other types of embryonal tumors: ETMRs are a subtype of embryonal tumors, and other types such as medulloblastomas or primitive neuroectodermal tumors (PNETs) may also need to be ruled out.
  • CNS germ cell tumors: These tumors can present with similar imaging features and should be considered in the differential diagnosis.
  • Craniopharyngiomas: Although typically benign, craniopharyngiomas can have a supratentorial location and may mimic ETMRs on imaging studies.
  • Pineal region tumors: Tumors arising from the pineal gland or surrounding structures, such as germinomas or pineoblastomas, should also be considered in the differential diagnosis.

According to [4], characteristic imaging features of ETMRs, C19MC-altered, may help in differentiating them from other supratentorial embryonal tumors. However, a definitive diagnosis can only be made through histopathological examination and molecular analysis.

It's worth noting that the differential diagnosis for ETMRs can vary depending on the specific location and characteristics of the tumor. A thorough evaluation by a multidisciplinary team of experts, including neurosurgeons, neuropathologists, and radiologists, is essential to arrive at an accurate diagnosis and develop an effective treatment plan.

References:

[4] Dangouloff-Ros V et al. (2019) - Embryonal tumors with multilayered rosettes, C19MC-altered: characteristic imaging features for differential diagnosis. [6] Tariq MU et al. (2017) - ETMR is a highly aggressive CNS embryonal neoplasm with extremely poor prognosis. It should be considered in the differential diagnosis of ... [9] (2024) - Differential diagnosis. The differential diagnosis varies according to the location of the tumor.

Additional Differential Diagnoses

  • Other types of embryonal tumors
  • CNS germ cell tumors
  • Craniopharyngiomas
  • Pineal region tumors

Additional Information

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