Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown. Familial cases of isolated astrocytomas have been reported but are very rare.

Astrocytomas can have a genetic link when they are associated with a few rare, inherited disorders. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis. Astrosytomas occur more frequently in people with one of these disorders.

Like many other cancers, it is believed that isolated astrocytomas may occur due to a combination of genetic and environmental factors. This means that a person may carry a gene (or a combination of genes) that predisposes them to developing an astrocytoma, but it may not develop unless it is "triggered" by an environmental factor.

Anaplastic astrocytomas reportedly occur more frequently in males than in females, with a male-to-female ratio of 1.87 to 1.

Pleomorphic xanthoastrocytoma (PXA) is a very rare type of astrocytoma, a primary central nervous system (CNS) tumor. This means it begins in the brain or spinal cord. PXAs typically have genetic alterations, such as the BRAFV600E mutation, that affect a series of chemical reactions known as the MAPK signaling pathway. These genetic alterations can ultimately help the tumor cells grow and survive. While these genetic changes help form and maintain the tumor, they may also be targeted for treatment.

To get an accurate diagnosis, a piece of tumor tissue will be removed during surgery, if possible. A neuropathologist should then review the tumor tissue.

What are the grades of PXA?

Primary CNS tumors are graded based on the tumor location, tumor type, extent of tumor spread, genetic findings, the patient’s age, and tumor remaining after surgery, if surgery is possible.

These tumors are grouped in two grades (grade 2 or grade 3, also written as grade II or grade III) based on their characteristics.

1. Grade 2 PXAs are low grade tumors. This means the tumor cells grow slowly.
2. Grade 3 APXAs are malignant (cancerous). This means they are fast-growing tumors.

What do PXAs look like on an MRI?

PXAs often form fluid-filled cysts in a mural nodule, which means a cyst within solid tissue with a dense appearance on MRI. Grade III PXAs may appear similar to PXAs, but the way they look varies and makes it difficult to tell apart from other primary CNS tumors. The diagnosis of PXA can’t be made by imaging alone because they may look the same as glioblastomas and other high-grade brain cancers.

What causes PXAs?

Cancer is a genetic disease – that is, cancer is caused by certain changes to genes that control the way our cells function. Genes may be mutated (changed) in many types of cancer, which can increase the growth and spread of cancer cells. The cause of most PXAs is not known. People with gene changes that can be passed down through families such as neurofibromatosis type I and familial melanoma/astrocytoma syndrome, are at increased risk for developing PXAs.

Where do PXAs form?

PXAs usually occur in one of the four lobes of the brain. The temporal lobe is the most common location. Rarely, PXAs can form in the cerebellum, brainstem, and spinal cord. PXAs are usually located close to the surface of the brain tissue. Scientists believe these tumors arise from cells that grow into glial and nerve cells. PXAs can look a variety of ways under the microscope and can be challenging to diagnose, as they share characteristics with other primary brain tumors. Review by an expert neuropathologist is recommended to confirm this diagnosis. Molecular testing will often reveal a BRAF gene change in these tumors.

Do PXAs spread? 

Grade II PXAs are slow-growing tumors that usually don’t spread. Grade III PXAs are fast-growing tumors that usually invade brain tissue in the lobe of the brain where they started. It’s rare for PXAs of any grade to spread to other areas of the CNS. There are no reported cases of spread outside of the CNS.

What are symptoms of a PXA?

Symptoms related to PXAs depend on the tumor’s location. Here are some possible symptoms that can occur.

PXA Symptoms

People with Grade II PXAs may have:

• Seizures
• Epilepsy
• Chronic headaches

People with Grade III PXAs may have:

• Seizures
• Weakness
• Numbness
• Speech and language changes

Who is diagnosed with PXAs?

PXAs can occur at any age, but tend to happen in young adulthood, and occur slightly more often in males than females. PXAs are more common in people of African descent. An estimated 1,081 people are living with this tumor in the United States.

What is the prognosis of PXAs?

The likely outcome of the disease or chance of recovery is called prognosis.

The relative 5-year survival rate for PXA is 76.2% but know that many factors can affect prognosis. This includes the tumor grade and type, traits of the cancer, the person’s age and health when diagnosed, and how they respond to treatment. If you want to understand your prognosis, talk to your doctor.

What are treatment options for PXAs?

The first treatment for a PXA is surgery, if possible. The goal of surgery is to obtain tissue to determine the tumor type and to remove as much tumor as possible without causing more symptoms for the person. Grade II PXAs can often be treated by surgery alone.

If they come back after surgery, there is no standard treatment for PXAs. Possible treatments at this time may include radiation, chemotherapy, targeted therapies, or clinical trials. If a BRAF change is present, clinical trials using a drug to target that may also be an option. Treatments are decided by the patient’s healthcare team based on the patient’s age, remaining tumor after surgery, tumor type, and tumor location.

Darien shares how he lived with what he thought was an aggressive brain cancer for eight years. Then, he got an accurate low-grade rare tumor diagnosis and made a fresh start.

I was 21 years old and a recent college graduate when I had my first petit mal seizure. My brain would take over everything in my body. It was like a movie screen turned on in the top left quarter of my vision and all my other senses turned off. I felt like I could see the future in fast forward but couldn’t talk or move.

The initial petit mal seizures each lasted about 10 to 15 seconds. To others, it looked like I was staring off blankly. The unplanned seizures and headaches with auras (strange feeling, experience or movement), continued to worsen over 9 months. I was too stubborn to visit the doctor.

Then, I had a grand mal seizure at my parents’ home in Virginia in February 2010. When I woke up, I was fighting the emergency medical team at the house. I didn’t want to get on a stretcher. It took a phone call my father, who was away on a business trip, to coax me to the hospital.

An MRI in the emergency room revealed a brain tumor. I did not hesitate to have surgery to remove it.

Surviving the Most Aggressive Brain Cancer

Two weeks after surgery, I was back to running and playing soccer. My life returned to normal. About a month later, I went in for a follow-up appointment.

I was told I had glioblastoma, the most aggressive brain cancer. I don’t remember anything the doctor said before or after the words “brain cancer” or the way I reacted. But, apparently, I punched a hole in the wall.

I immediately started six weeks of radiation, followed by 18 months of chemotherapy. I then started a vaccine clinical trial at NIH in 2012. And for seven years, my brain cancer was monitored by NCI’s Neuro-Oncology Branch healthcare team.

It was a weird scenario because I was doing so well. Everyone kept telling me that it was a miracle I was alive. After years of being told I was a miracle, I just didn’t want to hear it anymore. I was focused on living a normal and healthy life.

Going to NIH was an eye-opening experience. It is my second home. I never felt sick or like being there was real life. I was a physically-fit law officer on a fast-track to be a Secret Service special agent.

Then, in 2014, I was rear-ended at a red light. An MRI showed my brain bleeding in my brain stem. My stroke-like symptoms worsened quickly, and I needed surgery. I was now considered terminally ill and it was unrelated to my brain cancer.

Discovering I was Misdiagnosed

In 2015, I had surgery for my brain bleed in Arizona and rehab in Virginia. I returned to visit the neuro-oncology team at NIH for routine monitoring of my brain cancer. And I received life-altering news.

A neuropathologist at NIH had studied my tumor tissue and discovered it was not glioblastoma. Instead, I had a low-grade, slow-growing rare brain tumor called Pleomorphic Xanthoastrocytoma (PXA) tumor. The diagnosis explains why I was doing so well with what was supposed to be a lethal cancer.

You’d think I would be super happy. But I didn’t feel anything. I didn’t cry or scream. I was blank. People had been calling me a miracle for nearly a decade of my life. I didn’t know what to do or think.

The news for my parents was monumental. As my caregivers, they came with me to every appointment and procedure and provided emotional and physical support.

I know that I will be dealing with this brain tumor for the rest of my life. So, after the news, I decided to take my life into my own hands and start over. Now at age 31, I moved from my parents’ home to Texas to become a software engineer.

Adopting a Fighter Mindset and Choosing to Live

Early on in my cancer journey, I adopted a fighter mindset. I knew I had a choice when I was diagnosed. I could choose to feel sorry for myself or I could choose to live my life.

Darien

People kept telling me, “You’re so strong.” But I was living the way I always lived – a fighter.

I also had bad days. Cancer treatment made me feel ugly. My brain bleed caused my right eye to turn in temporarily and I couldn’t drive, run, or perform routine tasks. I now have a loss of balance, vision impairments, and partial numbness in my fingers and hands, but I don’t feel disabled.

What I want to tell people is you can’t control the rain, but you can control how you react to it. Just like cancer. It’s not your fault, but you have power over your way of thinking. Live your life.