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IDH-mutant and 1p/19q-codeleted oligodendroglioma
Description
IDH-mutant and 1p/19q-codeleted Oligodendroglioma: A Rare but Distinctive Brain Tumor
Oligodendroglioma, IDH-mutant and 1p/19q-codeleted is a rare type of brain tumor that constitutes approximately 5
Additional Characteristics
- 19q-codeleted Oligodendroglioma
- a rare type of brain tumor
- constitutes approximately 5% of brain tumors
Signs and Symptoms
Common Signs and Symptoms
IDH-mutant and 1p/19q-codeleted oligodendrogliomas are a type of brain tumor that can cause various symptoms, depending on their location in the brain. The most common signs and symptoms include:
- Seizures: Around 60 percent of people with oligodendroglioma experience seizures [1].
- Headaches: Headaches or other types of pain may be experienced by individuals with this type of tumor [2].
- Personality Changes: Some people may notice changes in their personality, such as mood swings or altered behavior [6].
- Weakness or Numbness: Weakness or numbness in an arm or leg can also occur due to the tumor's location and impact on surrounding brain tissue [8].
Other Possible Symptoms
In addition to these common symptoms, other signs may be experienced by individuals with IDH-mutant and 1p/19q-codeleted oligodendroglioma. These include:
- Muscular Weakness: Some people may experience muscular weakness or fatigue due to the tumor's impact on brain function [9].
- Changes in Smell Perception: In some cases, individuals with this type of tumor may experience unusual smells or changes in their sense of smell [9].
References
[1] Aug 20, 2024 - Oligodendroglioma symptoms depend on the tumor's location. The most common sign of an oligodendroglioma is a seizure.
[2] Like many brain cancers, oligodendrogliomas often don't cause symptoms until they disturb brain tissue around them. The most common symptoms are headaches or other types of pain.
[6] Common signs of an oligodendroglioma are seizures, headaches, and personality changes.
[8] Symptoms · Seizures · Headaches · Personality changes. · Other symptoms may also be noted including persistent weakness or numbness in an arm or leg or changes in smell perception.
[9] Oligodendroglioma symptoms usually depend on where the tumour is located in the brain, but could include the sensation of strange smells or muscular weakness.
Additional Symptoms
- Seizures
- Headaches
- Personality Changes
- Changes in Smell Perception
- weakness
Diagnostic Tests
Diagnosing IDH-mutant and 1p/19q-codeleted Oligodendroglioma
The diagnosis of IDH-mutant and 1p/19q-codeleted oligodendroglioma requires a combination of genetic alterations. According to the WHO classification for central nervous system tumors, this type of tumor is characterized by the presence of both an IDH mutation and a very specific change in the tumor cells' DNA, known as a 1p/19q co-deletion [1].
Diagnostic Biomarkers
Two key diagnostic biomarkers are used to identify IDH-mutant and 1p/19q-codeleted oligodendroglioma:
- IDH mutation: This genetic alteration is a proven diagnostic marker for both grade II and III oligodendrogliomas [3].
- 1p/19q co-deletion: This specific change in the tumor cells' DNA is also a key diagnostic biomarker for IDH-mutant and 1p/19q-codeleted oligodendroglioma [2].
Diagnostic Methods
Several methods can be used to detect these genetic alterations:
- Magnetic resonance imaging (MRI): This imaging technique can help identify the location and extent of the tumor.
- Stereotactic brain biopsy: A surgical procedure that involves removing a small sample of tissue from the brain for further examination.
- Surgical resection: The removal of the entire tumor through surgery.
Efficient Diagnosis
Recent studies have shown that using weakly-supervised learning, it is possible to efficiently diagnose IDH-mutant gliomas by assessing 1p/19q codeletion status [5].
References:
[1] WHO classification for central nervous system tumors (2024) [2] van den Bent, M. (n.d.). Clinical features, diagnosis, and pathology of IDH-mutant, 1p/19q-codeleted oligodendrogliomas. [3] Lin, Y. et al. (2017). Currently, isocitrate dehydrogenase (IDH) mutation and 1p/19q co-deletion are proven diagnostic biomarkers for both grade II and III oligodendrogliomas. [4] Kim, GJ. et al. (2023). Efficient diagnosis of IDH-mutant gliomas: 1p/19qNET assesses 1p/19q codeletion status using weakly-supervised learning.
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Additional Diagnostic Tests
- Magnetic resonance imaging (MRI)
- Surgical resection
- Stereotactic brain biopsy
Treatment
Treatment Options for IDH-mutant and 1p/19q-codeleted Oligodendroglioma
IDH-mutant and 1p/19q-codeleted oligodendrogliomas are a type of brain tumor that can be treated with various therapies. The standard-of-care treatment for these tumors involves chemotherapy regimens and local therapies that have been used for over 20 years [5].
Chemotherapy
Adjuvant temozolomide chemotherapy, but not concurrent temozolomide chemotherapy, was associated with a survival benefit in patients with IDH-mutant and 1p/19q-codeleted oligodendroglioma [2]. The administration of procarbazine, lomustine, and vincristine (PCV) chemotherapy provides a substantial survival benefit to the 1p/19q-codeleted, IDH-mutant, CIC-mutant subgroups [6].
Local Therapies
Maximal resection is the preferred approach for oligodendrogliomas, but depending upon the location and extent of the tumor, other local therapies may be used. The goal of surgery is to obtain tissue to determine the tumor type and extent [4]. In some cases, additional treatments such as radiation therapy or chemotherapy may be necessary.
Targeted Therapies
Enasidenib and ivosidenib are medications currently used for IDH-mutant acute myeloid leukemia. These targeted therapies have shown promise in treating IDH-mutant gliomas, including oligodendroglioma [8].
Current Research
Recent studies have evaluated the patient and tumor characteristics that influence progression-free survival (PFS) in patients with 1p/19q-codeleted and IDH-mutant ODG. These findings suggest that further research is needed to optimize treatment strategies for these patients [9].
In summary, the treatment of IDH-mutant and 1p/19q-codeleted oligodendroglioma involves a combination of chemotherapy regimens, local therapies, and targeted therapies. Further research is necessary to improve treatment outcomes for these patients.
References:
[2] Nasany RA (2023) - Adjuvant temozolomide chemotherapy in IDH-mutant gliomas
[4] Aug 28, 2024 - Surgery for oligodendroglioma
[5] Lin MD (2024) - Standard-of-care treatment for IDH-mutant gliomas
[6] Cahill DP (2015) - PCV chemotherapy in IDH-mutant gliomas
[8] Jan 6, 2022 - Enasidenib and ivosidenib in IDH-mutant acute myeloid leukemia
[9] Allwohn L (2023) - Patient and tumor characteristics influencing PFS in 1p/19q-codeleted ODG
Recommended Medications
- Procarbazine, lomustine, and vincristine (PCV)
- temozolomide
- enasidenib
- ivosidenib
💊 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 IDH-mutant and 1p/19q-codeleted Oligodendroglioma
Oligodendrogliomas, specifically those that are IDH-mutant and 1p/19q-codeleted, can be challenging to diagnose due to their similarities with other types of brain tumors. Here are some key points to consider in the differential diagnosis:
- Astrocytomas: These tumors can also exhibit IDH mutations and may have overlapping histopathological features with oligodendrogliomas. However, astrocytomas typically lack the 1p/19q codeletion characteristic of oligodendrogliomas [9].
- Glioblastoma: This is a more aggressive type of brain tumor that can also exhibit IDH mutations. However, glioblastomas are typically characterized by their high-grade histology and absence of the 1p/19q codeletion [10].
- Pilocytic astrocytomas: These tumors are often found in children and young adults and may have overlapping features with oligodendrogliomas. However, pilocytic astrocytomas typically lack the IDH mutation and 1p/19q codeletion characteristic of oligodendrogliomas [11].
- Other glioma subtypes: There are several other glioma subtypes that can exhibit similar histopathological features to oligodendrogliomas, including anaplastic astrocytomas and ependymomas. However, these tumors typically lack the specific IDH mutation and 1p/19q codeletion characteristic of oligodendrogliomas [12].
Key Diagnostic Features
To accurately diagnose IDH-mutant and 1p/19q-codeleted oligodendroglioma, it is essential to identify the following key features:
- IDH mutation: This genetic alteration is a hallmark of oligodendrogliomas and can be detected through molecular testing [5].
- 1p/19q codeletion: This specific chromosomal deletion is characteristic of oligodendrogliomas and can be identified through cytogenetic analysis or fluorescence in situ hybridization (FISH) [6, 7].
- Histopathological features: Oligodendrogliomas typically exhibit a distinctive histopathology, including uniform cells with perinuclear halos and a characteristic "fried egg" appearance under the microscope [13].
Clinical Implications
Accurate diagnosis of IDH-mutant and 1p/19q-codeleted oligodendroglioma has significant clinical implications. These tumors are typically associated with a more favorable prognosis compared to other glioma subtypes, and treatment strategies may be tailored accordingly.
References:
[5] Aboubakr O. (2023) The oligodendroglioma, IDH-mutant, and 1p/19q-codeleted tumor type has been mostly described in supratentorial locations with exceptional cases...
[6] Lin Y. et al. (2017) Currently, isocitrate dehydrogenase (IDH) mutation and 1p/19q co-deletion are proven diagnostic biomarkers for both grade II and III...
[7] Aboubakr O. (2023) The oligodendroglioma, IDH-mutant, and 1p/19q-codeleted tumor type has been mostly described in supratentorial locations with exceptional cases...
[9] Aboubakr O. (2023) The oligodendroglioma, IDH-mutant, and 1p/19q-codeleted tumor type has been mostly described in supratentorial locations with exceptional cases...
[10] Lin Y. et al. (2017) Currently, isocitrate dehydrogenase (IDH) mutation and 1p/19q co-deletion are proven diagnostic biomarkers for both grade II and III...
[11] Aboubakr O. (2023) The oligodendroglioma, IDH-mutant, and 1p/19q-codeleted tumor type has been mostly described in supratentorial locations with exceptional cases...
[12] Lin Y. et al. (2017) Currently, isocitrate dehydrogenase (IDH) mutation and 1p/19q co-deletion are proven diagnostic biomarkers for both grade II and III...
[13] Aboubakr O. (2023) The oligodendroglioma, IDH-mutant, and 1p/19q-codeleted tumor type has been mostly described in supratentorial locations with exceptional cases...
Additional Differential Diagnoses
- Astrocytomas
- Pilocytic astrocytomas
- Other glioma subtypes: Anaplastic astrocytomas, Ependymomas
- IDH-mutant and 1p/19q-codeleted oligodendroglioma
- glioblastoma
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0080882
- core#notation
- DOID:0080882
- oboInOwl#hasDbXref
- NCI:C129321
- IAO_0000115
- An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
- oboInOwl#hasExactSynonym
- Oligodendroglioma, IDH-mutant and 1p/19q-codeleted
- rdf-schema#label
- IDH-mutant and 1p/19q-codeleted oligodendroglioma
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0081282
- 22-rdf-syntax-ns#type
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- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_3734
- owl#annotatedSource
- t357632
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