embryonal tumor with multilayered rosettes, C19MC-altered

Embyonal Tumor with Multilayered Rosettes (ETMR), C19MC-Altered

ETMR, C19MC-altered is a rare and aggressive type of cancer that primarily affects children under the age of 3. It is a newly defined entity in the 2016 World Health Organization (WHO) Classification of Tumors of the Central Nervous System.

Characteristics:

• Age group: Primarily affects children under 3 years old.
• Cytogenetic abnormality: Characterized by amplification of the C19MC locus at chromosome 19q13.42.
• Morphology: Embryonal cells arranged in multilayered rosettes.

Classification:

ETMR, C19MC-altered is a subtype of embryonal tumors with multilayered rosettes (ETMR), which is a new subclassification of embryonal tumors. It belongs to the category of small round blue cell tumors of the central nervous system.

Prognosis and Treatment:

Unfortunately, ETMRs are highly aggressive and associated with poor prognosis. There is no standard treatment strategy for them due to their rarity. However, advances in molecular genetics and therapy may provide some hope for future treatments.

References:

• [1] (Search result 3) - Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered is a recently described tumor entity included in the latest update of WHO Classification of Tumours of the Central Nervous System.
• [2] (Search result 10) - ETMR, C19MC-altered is an embryonal central nervous system tumor that arises from cells partially differentiated or still undifferentiated from birth.
• [3] (Search result 11) - ETMR, C19MC-altered encompasses a group of three morphologically distinct embryonal tumors which were described as separate entities in the 2007 fourth edition of the World Health Organization Classification of Tumours of the Central Nervous System.

Common Signs and Symptoms

The most common clinical manifestations of Embryonal Tumor with Multilayered Rosettes (ETMR), C19MC-altered include:

• Increased Intracranial Pressure: Headache, nausea, and visual disturbances are common signs of increased intracranial pressure [5].
• Focal Neurologic Signs: Ataxia and weakness are often observed in patients with ETMR [4], [5].
• Seizures: Seizures can occur due to the tumor's impact on brain function [7].
• Hemiparesis: Weakness or paralysis of one side of the body can be a symptom of ETMR [7].
• Cerebellar Signs: Coordination and balance problems can arise from the tumor's location in the cerebrum or cerebellum [3], [7].

Other Neurologic Deficits

In addition to these common symptoms, other neurologic deficits have been reported in patients with ETMR, including:

• Cranial nerve palsies
• Other neurologic deficits

Symptoms Depend on Tumor Location

The presenting symptoms of ETMR vary and depend on the tumor's size and location [3].

Diagnostic Tests for Embryonal Tumor with Multilayered Rosettes (ETMR), C19MC-Altered

The diagnosis of ETMR, C19MC-altered is primarily based on molecular testing. Here are some diagnostic tests that may be used to confirm the presence of this tumor entity:

• Molecular Testing: This is the primary method for diagnosing ETMR, C19MC-altered. The test involves amplifying the C19MC locus at chromosome 19q13.42 to detect any amplification (1) [number1]. If the amplification is confirmed, it can help diagnose this specific type of ETMR.
• Immunohistochemistry (IHC): IHC may be used to confirm the presence of embryonal tumor cells with rosette features on morphology. LIN28A positive IHC can also support the diagnosis of ETMR, C19MC-altered (1) [number1].
• Physical Exam and Testing: A provider will perform a physical exam and testing to diagnose an embryonal tumor after a physical exam and testing (4) [number4]. This may include imaging studies such as MRI or CT scans.
• Genetic Testing: Genetic testing may be performed to confirm the presence of C19MC amplification or other genetic alterations associated with ETMR, C19MC-altered.

Key Points

• Molecular testing is crucial for diagnosing ETMR, C19MC-altered (3) [number3].
• C19MC amplification is required to diagnose this specific type of ETMR (6) [number6].
• If the amplification is not confirmed, ETMR-NOS should be the diagnosis (6) [number6].

References

(1) KR Chadda · 2023 · Cited by 5 (2) K Xu · 2022 · Cited by 2 (3) KR Chadda · 2023 · Cited by 5 (4) Jul 11, 2024 (5) M El-Mahdy · 2020 · Cited by 2 (6) SA Alshoabi · 2022 · Cited by 2

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

The treatment options for ETMR, specifically those with C19MC alterations, have evolved over time. According to recent studies [9], a multimodal treatment approach has been found to significantly impact the prognosis of patients with this condition.

Current Treatment Strategies:

• Surgery: Surgical resection is considered an essential component of the treatment plan for ETMR, including those with C19MC alterations [4].
• Chemotherapy: Chemotherapy regimens have been developed to target the specific genetic mutations associated with ETMR. For example, the CHEMO regimen, which combines cyclophosphamide, vincristine, etoposide, cisplatin, and a high dose of methotrexate, has been used as an adjuvant chemotherapy in some cases [2].
• High-Dose Chemotherapy: High-dose chemotherapy with autologous hematopoietic cell rescue has also been explored as a treatment option for ETMR [10].

Emerging Treatment Approaches:

• CARBO/ETO + HDCT: A combination of carboplatin, etoposide induction, tandem high-dose chemotherapy, and response-stratified radiotherapy has been investigated in the context of age-stratified treatment [1].
• Targeted Therapies: Research is ongoing to identify targeted therapies that can specifically address the genetic mutations associated with ETMR.

The differential diagnosis for embryonal tumor with multilayered rosettes (ETMR), C19MC-altered varies according to the location of the tumor.

• The general imaging differential for the brain includes other types of tumors such as medulloblastoma, atypical teratoid rhabdoid tumor (ATRT), and primitive neuroectodermal tumors (PNET) [6].
• In the case of ETMR, NOS/C19MC-altered, a rare and highly aggressive malignant brain tumor, differential diagnosis may also include other embryonal brain tumors such as medulloblastoma, ATRT, PNET, and others [5].

It is essential to consider these possibilities when diagnosing ETMR, C19MC-altered. However, the specific characteristics of ETMR, C19MC-altered, including its aggressive nature and unique cytogenetic abnormality with amplification of the C19MC region on chromosome 19 (Chr19q13.42), should be taken into account [2][3].

A thorough examination and diagnostic workup are necessary to accurately diagnose ETMR, C19MC-altered and distinguish it from other similar tumors.

References: [2] SA Alshoabi · 2022 · Cited by 2 [3] SA Alshoabi · 2022 · Cited by 2 [5] K Ulzen-Appiah · 2022 [6] Jul 2, 2024