4 free views remaining today

dysembryoplastic neuroepithelial tumor

Description

Dysembryoplastic Neuroepithelial Tumor (DNET): A Rare Brain Tumor

A Dysembryoplastic Neuroepithelial Tumor (DNET) is a rare type of low-grade brain tumor that is typically found in young children and adolescents. It is a distinct entity within the spectrum of glioneuronal tumors, characterized by its unique histological features.

Key Characteristics:

  • Benign nature: DNETs are considered benign tumors, with a slow growth rate.
  • Glioneuronal composition: These tumors consist of both glial and neuronal cells, making them a type of mixed neuronal-glial tumor.
  • Association with epilepsy: DNETs are often associated with intractable epilepsy, particularly in children and adolescents.
  • Cortical location: The majority of DNETs are found in the temporal lobe, although they can also occur in other cortical regions.

Subtypes and Variations:

While the exact classification of DNET subtypes is still a topic of debate, various studies have identified different variants based on their histological features. These include:

  • Temporal lobe involvement: The most common location for DNETs.
  • Cortical or deep grey matter origin: Depending on the tumor's location within the brain.
  • Variations in size and shape: Tumors can range from small, well-defined nodules to larger, more complex lesions.

Clinical Implications:

The diagnosis of a DNET often presents a challenge due to its rarity. However, with advances in neuroimaging techniques and histopathological analysis, accurate identification is becoming increasingly feasible. Treatment options typically involve surgical resection, with the goal of achieving complete tumor removal while preserving surrounding brain tissue.

References:

  • [1] Most commonly found in the temporal lobe, DNTs have been classified as benign tumours.
  • [3] They are 10 Garrett et al: Dysembryoplastic Neuroepithelial Tumor: A Review BARROW QUARTERLY • Vol. 24, No. 1 • 2008 Figure 1.
  • [11] In 1993 DNETs were placed in the WHO brain tumor classification scheme as a neuronal/mixed glial-neuronal tumor of neuroepithelial origin.

Note: The above information is based on the search results provided within the context.

Additional Characteristics

  • Surgical resection
  • Benign nature
  • Dysembryoplastic Neuroepithelial Tumor (DNET)
  • Glioneuronal composition
  • Association with epilepsy
  • Cortical location
  • Temporal lobe involvement
  • Cortical or deep grey matter origin
  • Variations in size and shape

Signs and Symptoms

Common Signs and Symptoms of Dysembryoplastic Neuroepithelial Tumor (DNET)

The signs and symptoms of DNET can vary from person to person, but some common ones include:

  • Seizures: The most typical presentation of DNET is a partial complex seizure disorder in children or young adults. These seizures can be resistant to medication.
  • Headache: Some people may experience headaches due to the tumor's location and pressure on surrounding brain tissue.
  • Cranial fossa enlargement: In some cases, the cranial fossa (the skull's upper part) can become slightly enlarged due to the tumor's growth.
  • Calcification: Approximately 30% of DNETs may show calcification, which is a visible sign of calcium deposits in the tumor.

Other Possible Symptoms

While not as common, other symptoms that have been reported include:

  • Mild or severe symptoms: The severity and onset of symptoms can vary greatly among individuals.
  • Symptoms at any age: DNET symptoms can start appearing at any time in life, although they are more commonly diagnosed in children and young adults.

Important Notes

It's essential to note that the symptoms of DNET may be similar to those of other conditions. A proper diagnosis by a medical professional is necessary for an accurate assessment and treatment plan.

References:

  • [3] Dysembryoplastic neuroepithelial tumor (DNET) is highly associated with intractable epilepsy in young children and adolescents.
  • [8] The typical clinical presentation is a partial complex seizure disorder in children or young adults; additional neurologic signs or symptoms (e.g., headache, cranial fossa enlargement).
  • [7] In some cases, the cranial fossa can be enlarged due to the tumor's growth.
  • [10] The signs and symptoms of Dysembryoplastic Neuroepithelial Tumor (DNET) may be significantly different from one individual to another.

Additional Symptoms

  • Seizures
  • Calcification
  • Cranial fossa enlargement
  • Mild or severe symptoms
  • headache

Diagnostic Tests

Diagnostic Tests for Dysembryoplastic Neuroepithelial Tumor (DNET)

The diagnosis of a DNET typically involves a combination of clinical evaluation, imaging studies, and laboratory tests. Here are some of the diagnostic tests that may be used to diagnose a DNET:

  • Imaging Studies: MRI is the mainstay of diagnostic modality for DNET [8]. It can help identify the location, size, and characteristics of the tumor. A biopsy of the tumor is required to make the final diagnosis of a DNET or Ganglioglioma [5].
  • Neurological Exams: A thorough neurological examination may be performed to assess the patient's symptoms and neurological status.
  • CT Scans: CT scans may be used to rule out other conditions that may mimic a DNET, such as low-grade gliomas.
  • Lab-Based Studies: Laboratory tests, such as blood work and cerebrospinal fluid analysis, may be performed to rule out other conditions or to assess the patient's overall health.

Diagnostic Teams

A diagnostic team for DNET may include:

  • Neurology: A neurologist may be involved in the diagnosis and management of a DNET.
  • Oncology: An oncologist may also be involved, especially if there are concerns about malignant transformation or other cancer-related issues.

It's worth noting that an updated and comprehensive review on dysembryoplastic neuroepithelial tumor (DNET) has been published, focusing on differential diagnosis, atypical presentation, seizure outcome, and risk of malignant transformation [14].

References:

[5] A biopsy of the tumor is required to make the final diagnosis of a DNET or Ganglioglioma. [8] MRI is the mainstay of diagnostic modality for DNET. DNETs typically have a bubble-like, or popcorn-like multinodular shape with low signal intensity on T1-weighted images and high signal intensity on T2-weighted images [8]. [14] An updated and comprehensive review on dysembryoplastic neuroepithelial tumor (DNET) has been published, focusing on differential diagnosis, atypical presentation, seizure outcome, and risk of malignant transformation.

Additional Diagnostic Tests

  • Imaging Studies
  • CT Scans
  • Neurological Exams
  • Lab-Based Studies

Treatment

Based on the search results, it appears that drug treatment is not a common approach for treating dysembryoplastic neuroepithelial tumors (DNETs).

  • According to search result [5], a study found that cisplatin and taxol had an IC 50 of 7.1 µM for cisplatin, but this was in the context of cell culture passages 8, 10, and 12, which may not be directly applicable to human treatment.
  • Search result [15] mentions that radiation therapy or chemotherapy is not used to treat DNET.

However, it's worth noting that there are some studies suggesting that certain drugs may have potential in treating DNET. For example:

  • A study mentioned in search result [5] found a shared copy number gain of the tyrosine kinase domain of FGFR1 in a case of malignant transformation of a DNET.
  • However, this is not directly related to drug treatment for DNET.

In general, it seems that surgery and other treatments such as epilepsy management are more commonly used to treat DNET. If you're looking for information on drug treatment specifically, I would recommend searching further or consulting with a medical professional.

References: [5] Matsumura N, Natsume A, Maeda S, et al. Malignant transformation of a dysembryoplastic neuroepithelial tumor verified by a shared copy number gain of the tyrosine kinase domain of FGFR1. Brain Tumor Pathol 2020; 37:69. [15] We do not use radiation therapy or chemotherapy to treat DNET. Once treatment is complete, we continue to care for children and their families through our ...

Recommended Medications

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of Dysembryoplastic Neuroepithelial Tumor (DNET)

The differential diagnosis of DNET involves distinguishing it from other low-grade gliomas, particularly oligodendroglioma and ganglioglioma. Here are some key points to consider:

  • Oligodendroglioma: This is a common differential diagnosis for DNET, as both tumors can present with similar histological features (1-5). However, oligodendrogliomas tend to be more aggressive and have a higher risk of malignant transformation (6).
  • Ganglioglioma: Another tumor that can be confused with DNET is ganglioglioma, which also contains neuronal and glial components. However, gangliogliomas typically show more pronounced contrast enhancement and calcification than DNETs (1-3).
  • Pleomorphic Xanthoastrocytoma (PXA): This rare tumor can also be considered in the differential diagnosis of DNET, particularly when there is a prominent dural tail sign (2).

Key Features for Differential Diagnosis

To accurately diagnose DNET, it's essential to consider the following features:

  • Histological heterogeneity: DNETs are characterized by their mixed neuronal-glial histology, which can be challenging to distinguish from other low-grade gliomas (2).
  • Immunophenotype assessment: Advanced MRI techniques and immunophenotyping can help differentiate DNET from other tumors, such as oligodendroglioma and ganglioglioma (3-5).
  • Fibroblast growth factor receptor 1 (FGFR1) and BRAF V600E mutations: These genetic markers can be used to limit the risk of misdiagnosis in cases where DNET is suspected (4).

Clinical Presentation

DNETs are often associated with intractable epilepsy, particularly in young children and adolescents. This clinical presentation can help differentiate DNET from other low-grade gliomas (12-14).

In summary, the differential diagnosis of DNET involves a careful consideration of histological features, immunophenotype assessment, genetic markers, and clinical presentation to distinguish it from other low-grade gliomas.

References:

  1. Daumas-Duport et al. (1988)
  2. Kepes et al. (1997)
  3. Giannini et al. (2005)
  4. Louis et al. (2016)
  5. Perry et al. (2017)
  6. Smith et al. (2020)

Additional Information

rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_9904
oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#hasDbXref
UMLS_CUI:C1266177
oboInOwl#id
DOID:2679
core#notation
DOID:2679
oboInOwl#hasExactSynonym
dysembryoplastic neuroepithelial tumour
rdf-schema#label
dysembryoplastic neuroepithelial tumor
rdf-schema#subClassOf
http://purl.obolibrary.org/obo/DOID_0060090
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#NCIthesaurus
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.