Understanding IDH1/2 Mutations in Brain Cancer

WHAT ARE IDH1/IDH2 MUTATIONS?

IDH refers to isocitrate dehydrogenase (IDH) mutation brain tumors, including astrocytomas and oligodendrogliomas. The most common type of tumor originating in the brain are gliomas. Many gliomas carry a mutation in the gene for IDH1, an enzyme involved in cell metabolism.

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Understanding IDH1/2 Mutations in Brain Cancer

Questions to Ask Your Healthcare Provider (HCP)

Current Standard of Care for High-Grade Glioma (HGG)

Current Standard of Care for Low-Grade Glioma (LGG)

What are IDH1 and IDH2 Mutations?

1

What are IDH1 and IDH2 Mutations?

IDH1 (Isocitrate Dehydrogenase 1) and IDH2 (Isocitrate Dehydrogenase 2) are genes that encode enzymes involved in cellular metabolism that help convert nutrients into energy.
Sometimes, changes (mutations) occur in these genes, leading to the production of abnormal enzymes.
These mutated enzymes can contribute to the development of various types of cancer, including gliomas (a type of brain tumor) and acute myeloid leukemia (AML).

2

Importance of IDH1/2 Mutations in Brain Cancer

Testing for mutations in IDH1 and IDH2 helps doctors accurately diagnose certain types of brain tumors, particularly gliomas, which are tumors that arise from glial cells in the brain. Glial cells are non-neuronal cells that provide physical and metabolic support to neurons in the central and peripheral nervous systems. They are also called glia, neuroglia, or gliocytes.
IDH1/2 mutations are particularly relevant in gliomas, including astrocytoma oligodendrogliomas, and certain subtypes of glioblastoma BRAIN TUMOR. These mutations are found more commonly in low grade gliomas and a smaller percentage of high-grade gliomas.
Patients with gliomas that have IDH1/2 mutations generally have a better prognosis compared to those without these mutations. This means that these tumors tend to grow more slowly and respond better to treatment.
Identifying IDH1/2 mutations can help doctors tailor treatment plans more effectively. For example, tumors with these mutations might be more responsive to certain therapies, affecting decisions around surgery, radiation, and chemotherapy.

3

Why Should Patients Get Tested for IDH1/2 Mutations?

Getting tested for IDH1/2 mutations helps confirm the type of brain tumor you have; it helps identify if the glioma is an astrocytoma or an oligodendroglioma which is crucial for determining the most effective treatment strategy.
Testing can guide doctors in choosing the best treatment options for you, potentially leading to better outcomes and fewer side effects.

What Should Patients and Caregivers Know?

Testing Procedure: To test for IDH1/2 mutations, patients undergo a biopsy to collect a tumor tissue sample. This biopsy, which can be performed during surgery or with a needle, provides a small sample of the tumor that is examined by a pathologist for glioma confirmation. If you undergo a resection, part of the resected tumor sample can undergo testing as well. The sample is then sent to a specialized laboratory for IDH1 and IDH2 mutation testing using PCR, NGS, or IHC techniques. Once the results are available, your doctor will explain the findings and adjust your treatment plan, accordingly, incorporating surgery, chemotherapy, radiotherapy, and/or targeted therapy options based on the test outcomes.
Research on IDH1/2 mutations and their implications for brain cancer treatment is ongoing. Keeping up with new developments can help you and your medical team make the best decisions.

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Questions to Ask Your Healthcare Provider (HCP)

1

Testing and Diagnosis:

“How can I get tested for IDH1 and IDH2 mutations?”
“How is the testing for these mutations done, and how long does it take to get results?”

2

Understanding Results:

“What do my IDH1/IDH2 test results mean for my diagnosis and prognosis?”
“How will the presence or absence of these mutations affect my treatment options?”

3

Treatment Options:

“What targeted therapies are available for my type of cancer if I have an IDH mutation?”
“What are the potential benefits and risks of using IDH inhibitors in my treatment?”

4

Clinical Trials:

“What clinical trials are available for patients with IDH1 or IDH2 mutations that I should consider?” (Fill this form out if you or your loved one is seeking assistance searching for suitable clinical trials- Advocacy & Patient Inquiry Form.

5

Follow-Up and Monitoring:

“How will my treatment and monitoring plan change if I have an IDH mutation?”
“What should I expect in terms of side effects and management of targeted therapies?

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Current Standard of Care for High-Grade Glioma (HGG)

1

Surgical Resection:

Aim for maximal safe resection to remove as much of the tumor as possible.
Extent of resection is a key prognostic factor.

2

Radiation Therapy (RT):

Standard fractionated RT is administered following surgery.
Typically involves daily sessions over several weeks.

3

Chemotherapy:

Concurrent and adjuvant temozolomide (TMZ) is the standard chemotherapy regimen.
Stupp protocol: Concurrent RT and TMZ (75 mg/m²/day) for 6 weeks, followed by adjuvant TMZ (150–200 mg/m²/day for 5 days every 28 days) for 6 months.

4

Tumor Treating Fields (TTFields) e.g. Optune GIO

Can be used during maintenance TMZ therapy.
A non-invasive treatment that uses electric fields to disrupt cancer cell division.

5

Other FDA-Approved Therapies for Recurrent HGG:

Lomustine
Intravenous carmustine
Carmustine wafer implants (Gliadel Wafers)

6

Advanced MRI and PET Imaging:

Used to differentiate tumor progression from pseudo progression and to better characterize the tumor

7

Molecular Testing and Biomarkers:

Testing for IDH mutations, 1p/19q codeletion status, EGFR amplification, and TERT promoter mutations.
These biomarkers help in prognosis and tailoring specific treatments.

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Current Standard of Care for Low-Grade Glioma (LGG)

1

Surgical Resection:

Maximal safe resection is preferred to delay progression.
Biopsy may be performed if resection is not feasible.

2

Watchful Waiting:

Regular monitoring with MRI if the tumor is not causing symptoms and has a slow growth pattern.

3

Radiation Therapy:

Considered if there is tumor progression or symptomatic disease.
Standard fractionated RT may be used.

4

Chemotherapy:

May involve TMZ or PCV (procarbazine, lomustine, and vincristine) regimen.
Used in cases where surgery and RT are not sufficient or in higher-risk patients.

5

Molecular Testing:

Testing for IDH mutations, 1p/19q codeletion status, and other relevant genetic markers.
Helps in prognosis and guiding therapy decisions.

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