When my husband was diagnosed with an Atypical Teratoid Rhabdoid Tumor (ATRT) and I became the caregiver for an ATRT cancer patient, I didn’t know what it was, much less 5 things about it.
But through his journey as an adult survivor, I’ve come to learn entirely too much about these fuckers—and do not excuse my language because I will not apologize for calling them anything but what they are which are evil fucking fuckers that can go fuck themselves. The fact that these tumors target children already means they deserve every bit of venom I can spit.
[Note: If it’s not already obvious, I’m not an oncologist, not a medical professional, not an expert in ATRTs or cancer. What I am is the wife and caregiver of an atypical ATRT patient. Nothing I write here should be taken as professional medical advice or anything more than what I’ve learned through my own family’s cancer journey.]
Atypical Teratoid Rhabdoid Tumors are rare, aggressive, malignant tumors of the central nervous system. They most often appear in children’s brains and they have the kind of prognosis that doctors warn you not to Google (which of course made it one of the first things I did and of course also immediately regretted)
They’re heartbreakers, appearing in the most vulnerable and innocent of populations and are more likely than not to cause absolute devastation, not just of bodies but of families and lives.
This was the extent of my knowledge after my husband was first diagnosed. But as it turns out, Antonio’s case is . . . well . . . “unusual” is an understatement. Here’s what I’ve learned:
1. ATRTs can originate on the spinal cord.
Since ATRTs are focused to the central nervous system, they can appear in both the brain and spinal cord. Most ATRTs originate in the brain—either in the cerebellum or brain stem.1
Spinal cord ATRTs typically start in the brain; the brain tumors can grow quickly, spreading to the spine through cerebrospinal fluid, and they can move to other parts of the body as well.1
It’s possible, but rare, for them to originate on, much less stay limited to, the spinal cord.2
As of 2019, there were only 16 known cases where the ATRT started on the spine, all of them in children.3
My husband’s tumors originated on his spine; they did not come from another part of the central nervous system, nor have they spread to other parts of his body.
2. ATRTs can appear in adults.
ATRTs are rare, period. It’s estimated that there are only 596 people living with this tumor.1
They are most often diagnosed in children ages 3 and under and represent only 1-2% of all childhood brain tumors (age 16 or younger).2,4,5
This alone is a truly heartbreaking statistic, because it means that the majority of people living through the hell that is an ATRT diagnosis are still just babies—toddlers who maybe have recently learned to walk and talk, whose biggest trial of life should be potty training, not cancer treatment.
If ATRTs are rare in children, they’re even more so in adults. As of 2021, of the estimated 58 people diagnosed per year, less than 16 are adults (qualified as age 15 and up).1
Another estimate literally calls adults with ATRTs one in a million.6
My husband’s first ATRT tumor made itself known when he was 43 years old. His second at 52.
3. ATRTs are most often caused by a genetic mutation.
One of the first things you do when someone you love is diagnosed with cancer is search for an explanation—you want answers to the questions of “Why him? Why now?”
ATRTs offer no help beyond: a gene gone rogue. Because they are most often caused by a change, either deletion or mutation, of the SMARCB1 gene (a gene that when functioning normally suppresses tumor growth)7, patients who are diagnosed with ATRTs most likely won’t even know that this cancer is a possibility until they already have it. They can appear in a person’s DNA, but not always.1
There’s most likely no imagining in any parent’s head that their child could have this cancer—no known family history or exposure to some carcinogen or other—which makes it feel that much more random and unpredictable, and that much harder of a blow.
It also means that families face agonizing decisions around genetic testing to find out if the mutation is in fact in a patient’s DNA and thus either inherited or passed on. Imagine the absolute devastation a parent feels upon finding out her child has an aggressive, malignant cancer with a horrible prognosis, only to then have to find out if she unknowingly passed it to her child or other children.
My husband has no history of cancer in his family. His oncologists confirmed the markers of a SMARCB1 mutation, and we faced the decision of genetic testing with the only hope we had: All of his children were older than the typical age of first-diagnosed ATRT patients. Fortunately the test results came back that he could not pass it on.
(“Fortunately” isn’t really sufficient here, to be honest. “Fortunately” in this case is a poor substitute for “thank every omnipotent being in the universe and beyond that the cavernous pit of horrific worry and fear that opened up upon first hearing the words ‘genetic’ and ‘cancer’ together slowly closed.”)
4. Treatment for ATRTs is no joke and recurrence is expected.
Assuming the tumor is in an operable location, one of the first treatments for ATRTs is surgery. This can be followed by radiation or chemotherapy, or both, and other potential treatments like clinical trials or immunotherapy.1
The asterisk to all of these treatments that a pretty simple Google search reveals is that for many, many patients each of these treatments is an extremely intense experience, and most patients are going through all of them, often more than once.
Surgery can mean half a dozen operations or more, addressing not just tumor removals but infinite varieties of complications. Radiation can be over long periods at high doses. And the chemo. My god, the chemo. Families watch their children go through horrendous protocols that can last over a year. All of these can have long-lasting or even permanent, serious side effects on physical and cognitive development.
All of these treatments don’t guarantee a cure. There is no cure for ATRTs. There is only a forever vigilance—patients receive regular MRIs to monitor for recurrence, all the while knowing that ATRTs are extremely aggressive. Most patients experience a recurrence within 2-3 years after completing treatment.8
Recurrence is one thing; survival another. Resources are hesitant to publish survival rate information, defaulting to “poor” at best, but the one hard number I’ve found is only 32% of diagnosed patients survive for more than five years.2
My husband’s first ATRT was treated with surgery, radiation and chemotherapy. The second appeared as a spot on an MRI nine years after the first. We found out about it a year later, when doctors told us the spot they’d seen the year previous had grown and needed to be biopsied.
Since then he’s had 4 more surgeries, for tumor removal and to treat subsequent complications and infections, each one requiring more complex closures and guaranteeing that any subsequent operations will be that much riskier.
He’s maxed out on massive doses of radiation, and this is no longer a treatment option for him going forward. His oncologist told us if he got near the levels of chemotherapy that most pediatric patients receive, he’d be in the hospital for over a year straight due to the toll it would take on his body, so we haven’t pursued that option . . . yet. He’s had just under 2 years of immunotherapy that, due to side effects, is also no longer a future treatment option.
5. ATRTs can be all of these things at the same time.
My husband’s ATRT diagnosis was a surprise, certainly to us but perhaps even more so to his oncologists.
Genetic testing of the spinal tumor in 2018 revealed that not only was it an ATRT, his cancer 10 years earlier was not an anaplastic ependymoma as the pathology originally determined but an ATRT as well.
He had a recurrence of a cancer that was not the cancer we thought was recurring. A cancer that is also…
. . . not a cancer that typically appears in adults.
. . . not a cancer that typically originates on the spine.
. . . not a cancer that typically goes dormant for 9 years post-treatment, especially when that treatment has not included pediatric protocol chemotherapy.
“We’ve never seen an ATRT appearing where yours is, in a patient your age, behaving in the way yours has behaved.”
As the oncologist who diagnosed him put it: “We’ve never seen an ATRT appearing where yours is, in a patient your age, behaving in the way yours has behaved.”
At that point, despite the fact that we were at Duke Cancer Institute, part of one of the country’s best hospitals for cancer care and the best in the Southeast, I thought if they hadn’t seen it, then maybe we needed to go someplace that had.
“Is there another cancer center we should be going to then, that has some experience with this?” I asked.
She looked at both of us carefully and said, “What I mean is, no one has seen this.”
So we stayed. And his team of doctors—neuro-oncologists, radiation oncologists, neurosurgeons, plastic surgeons, palliative care specialists, nurses, psychologists, and many many more—have been the most wonderful, supportive, innovative team we could possibly ask for.
There’s a weird kind of gratefulness that I feel having a spouse with such a unique diagnosis. On the one hand, I’m so thankful that we’re not going through a pediatric ATRT diagnosis. My heart goes out to those families and children—I can relate to their pain and at the same time simply cannot imagine their pain, and I recognize that nothing my family has been through comes anywhere close.
Both Antonio and I feel so unbelievably lucky that so far his treatments have been effective. While there is no remission for ATRTs, and the best we can describe his status is as one of “active monitoring,” he’s in a good place today and we’ll take every instance of that we can get.
On the other hand, it feels strange—wrong—to feel grateful and lucky to have a rare, malignant cancer diagnosis. We don’t get to ever put this behind us. We expect another recurrence based on the fact that it’s happened before. There is no “Yay! Cancer free!” point in his case, just a forever waiting period. He’s a survivor with a permanent asterisk.
That and the nature of his “only one” status means that there is no protocol we can look to, no patients or families going through the same experience that we can learn from or lean on.
So we wait. And we look at his status of complete unknown less as a scary potential and more as one of limitless possibilities. Maybe his cancer won’t return. Maybe his treatments will be 100% effective. We have to—and get to—live with the possibility either way.
- https://www.cancer.gov/rare-brain-spine-tumor/tumors/atrt
- https://www.braintumourresearch.org/info-support/types-of-brain-tumour/glioma/atypical-teratoid-rhabdoid-tumour-(at-rt)
- https://www.sciencedirect.com/science/article/pii/S2214751919300702
- https://www.childrenshospital.org/conditions/atrt
- https://www.dana-farber.org/childhood-atypical-teratoid-rhabdoid-tumor/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5476998/
- https://www.nature.com/articles/s41598-021-92223-x
- https://academic.oup.com/neuro-oncology/article/21/Supplement_2/ii65/5466843
