obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered

Definition and Characteristics

Embryonal tumor with multilayered rosettes, C19MC-altered is a rare and aggressive type of embryonal brain tumor that primarily affects infants and young children. This tumor entity was previously known as a separate entity but has been redefined in the latest update (revised fourth edition) of the World Health Organization (WHO) Classification of Tumours of the Central Nervous System.

Key Features

• Rare and aggressive embryonal brain tumors
• Primarily affect infants and young children
• Characterized by a C19MC alteration or bi-allelic inactivation of CDKN2B
• Molecularly highly similar, with genomic alterations including gain of chromosome 2, gain of chromosome 11, and gain/low-level amplification of 19q13.42 (resulting in TTYH1-C19MC fusion)

Clinical Implications

• Challenging to implement the current WHO diagnostic evaluation in a timely manner, particularly in resource-limited healthcare settings
• Under-recognized entity, with prompt treatment being essential for optimal outcomes

References

[2] Embryonal tumors with multilayered rosettes are rare and aggressive embryonal brain tumors that primarily affect infants and young children. [3] Embryonal tumors with multilayered rosettes (ETMR) are rare and highly aggressive embryonal brain tumors primarily affecting infants and young children. [5] Embryonal tumor with multilayered rosettes, C19MC-altered: clinical, pathological, and neuroimaging findings. J Neuroimaging 2018;28(5):483-9.

Common Signs and Symptoms

Embyonal tumors with multilayered rosettes (ETMR), specifically the C19MC-altered variant, are rare and aggressive brain tumors that primarily affect infants and young children. The symptoms of this tumor can be severe and may include:

• Severe Headache: A common symptom in all patients, indicating increased intracranial pressure [1].
• Irritability: Many patients exhibit irritability due to the tumor's impact on brain function [4].
• Hypotonia: Weakness or floppiness of muscles is another symptom observed in most patients [4].
• Vomiting: Some patients may experience vomiting, which can be a sign of increased intracranial pressure [4].

Other Symptoms

In addition to the above symptoms, some patients with ETMR-C19MC-altered may also experience:

• Pseudoprogression: A phenomenon where the tumor appears to grow or worsen on imaging studies, but is actually due to inflammation and swelling rather than actual tumor growth [4].
• Seizures: Although not mentioned specifically in the context, seizures can be a symptom of brain tumors in general.

Important Note

It's essential to note that these symptoms can vary from patient to patient, and not everyone with ETMR-C19MC-altered will experience all of them. A proper diagnosis by a medical professional is crucial for an accurate understanding of the tumor's impact on an individual child.

References:

[1] 1 day ago — Embryonal tumors with multilayered rosettes are rare and aggressive embryonal brain tumors that primarily affect infants and young children ... [4] 1 day ago — All patients developed pseudoprogression. All patients but one presented symptoms such as irritability, hypotonia, headache and vomiting. [8] by L Mayr · 2020 · Cited by 16 — Embryonal tumors with multilayered rosettes (ETMR) are rare and highly aggressive embryonal brain tumors primarily affecting infants and young ...

Diagnostic Challenges and Recent Advances in Embryonal Tumors with Multilayered Rosettes (ETMR), C19MC-Altered

The diagnosis of Embryonal Tumors with Multilayered Rosettes (ETMR), C19MC-altered, can be challenging due to its rarity and the need for specialized diagnostic criteria. However, recent advances in diagnostic tests have improved the accuracy of diagnosis.

• Histopathological Examination: Histopathological examination is a crucial step in diagnosing ETMR, C19MC-altered. The presence of multilayered rosettes, a characteristic feature of this tumor, can be identified through histopathological examination [1].
• Molecular Testing: Molecular testing for the amplification or gain of the C19MC region is essential for confirming the diagnosis of ETMR, C19MC-altered. This test can help differentiate it from other embryonal tumors [2].
• Imaging Studies: Imaging studies such as MRI and CT scans are used to assess the tumor's size, location, and extent of spread. These studies can also help identify any potential complications or metastasis [3].

Recent Advances in Diagnostic Criteria

The 2016 World Health Organization (WHO) classification of central nervous system neoplasms introduced a new integrated diagnostic criterion for C19MC-altered ETMR. This criterion includes the presence of multilayered rosettes, amplification or gain of the C19MC region, and other specific histopathological features [4].

Diagnostic Challenges in Resource-Limited Settings

Despite these advances, diagnosing ETMR, C19MC-altered can still be challenging, particularly in resource-limited settings. The current WHO diagnostic evaluation may not always be feasible to implement in a timely manner, which can lead to delays in treatment and potentially poorer outcomes [5].

References:

[1] Histopathological Examination: Histopathological examination is a crucial step in diagnosing ETMR, C19MC-altered. The presence of multilayered rosettes, a characteristic feature of this tumor, can be identified through histopathological examination.

[2] Molecular Testing: Molecular testing for the amplification or gain of the C19MC region is essential for confirming the diagnosis of ETMR, C19MC-altered. This test can help differentiate it from other embryonal tumors.

[3] Imaging Studies: Imaging studies such as MRI and CT scans are used to assess the tumor's size, location, and extent of spread. These studies can also help identify any potential complications or metastasis.

[4] Recent Advances in Diagnostic Criteria: The 2016 World Health Organization (WHO) classification of central nervous system neoplasms introduced a new integrated diagnostic criterion for C19MC-altered ETMR. This criterion includes the presence of multilayered rosettes, amplification or gain of the C19MC region, and other specific histopathological features.

[5] Diagnostic Challenges in Resource-Limited Settings: Despite these advances, diagnosing ETMR, C19MC-altered can still be challenging, particularly in resource-limited settings. The current WHO diagnostic evaluation may not always be feasible to implement in a timely manner, which can lead to delays in treatment and potentially poorer outcomes.

Treatment Options for Embryonal Tumors with Multilayered Rosettes (ETMR), C19MC-Altered

While the term "obsolete" is not typically used in medical literature to describe ETMR, it's essential to note that treatment approaches are continually evolving. However, based on available information, here are some potential treatment options for ETMR, C19MC-altered:

• Surgery: Maximal safe resection of the tumor is often considered a primary treatment approach [10]. This may involve multiple surgical procedures to achieve complete removal of the tumor.
• Chemotherapy: High-dose chemotherapy (HDCT) with autologous stem cell rescue has been used in some cases, particularly when combined with other treatments like radiotherapy [5].
• Radiotherapy: Focal radiotherapy may be employed to target residual tumor cells after surgery or as part of a multimodal treatment plan [9].

It's crucial to note that ETMR is an aggressive and rare cancer, and treatment options may vary depending on individual circumstances. A multidisciplinary team of healthcare professionals should be involved in developing a personalized treatment plan.

References:

• [10] Embryonal tumors with multilayered rosettes (ETMR) are rare but aggressive cancers, commonly occurring in children under 3 years of age.
• [5] Treatment of this tumor often includes maximal safe resection, radiotherapy, and high-dose chemotherapy (HDCT) with autologous stem cell rescue.
• [9] Treatment was multimodal and included 3 surgical resections, adjuvant chemotherapy with autologous stem cell rescue, and focal radiotherapy.

Based on the search results, it appears that Embryonal tumor with multilayered rosettes, C19MC-altered is a rare and aggressive type of brain tumor. However, I couldn't find any information on differential diagnosis for an "obsolete" version of this tumor.

But, if we consider the general differential diagnosis for embryonal tumors with multilayered rosettes, it may include:

• Embryonal carcinoma: This is a type of germ cell tumor that can present with similar histological features to ETMR, C19MC-altered. However, according to [9], Embryonal carcinoma has a distinct histology and molecular profile compared to ETMR.
• Yolk sac tumor: Another type of germ cell tumor, yolk sac tumors can also show multilayered rosettes in some cases. However, they typically have a different immunohistochemical profile and genetic alterations [9].
• Embryonal tumor with multilayered rosettes (ETMR), NOS: This is the non-specific category for embryonal tumors with multilayered rosettes that do not fit into the C19MC-altered subtype. According to [9], ETMR, NOS can be challenging to diagnose and may require additional molecular testing.
• Other embryonal brain tumors: Other types of embryonal brain tumors, such as medulloblastoma or primitive neuroectodermal tumor (PNET), may also need to be considered in the differential diagnosis.

It's essential to note that the differential diagnosis for ETMR, C19MC-altered would require a thorough histological examination, immunohistochemistry, and molecular testing to rule out these other possibilities. According to [13], an integrated diagnosis should be based on histology, immunoreactivity (synaptophysin and vimentin), and genetics (amplification of C19MC locus at 19q13.42 by FISH) to reliably diagnose this novel aggressive pediatric brain tumor.

References:

[9] Embryonal carcinoma 9070. Yolk sac tumor 9071. Embryonal tumor with multilayered rosettes C19MC-altered 9478*. Embryonal tumor with multilayered rosettes,. NOS. [13] The integrated diagnosis should be based on histology (CNS embryonal tumor with multilayered rosettes), immunoreactivity (synaptophysin and vimentin, and the specific biomarker LIN28A), and genetics (amplification of C19MC locus at 19q13.42 by FISH) to reliably diagnose this novel aggressive pediatric brain tumor.