A Minnesota cancer researcher is launching the nation's first registry to study rare ovarian and testicular tumors that occur in children.
If the International Ovarian and Testicular Stromal Tumor Registry collects enough tumor cases, researchers may be able to identify patterns that would help them diagnose children earlier, giving them a better chance of recovery and preserving their fertility.
It's also possible that information gleaned from studying these rare tumors at Children's Hospitals and Clinics of Minnesota can help scientists unlock new ways to defeat other, more common cancers.
Stromal tumors may be rare, but they are generally not that difficult to diagnose in very young children because they can cause the body to release powerful hormones. It is often obvious to parents that something is not right with their child, said Dr. Kris Schultz, a pediatric cancer specialist at Children's.
"Young girls are often found to be going through puberty much earlier than you would expect, for example even in the very early childhood years, even in infancy," she said.
One child, Kinayda, was just 3 years old when she got her first period. MPR News has agreed to withhold the family's last name to protect their medical privacy.
Her father, Richard, had no idea what was happening to his daughter so he rushed her to the hospital. After a series of tests, the doctor told him that his daughter had an ovarian tumor.
"He pressed down on her chest cavity area and you could see that she was forming these little bumps, little breasts," the father said. "So he said, 'She's going into puberty.'"
Doctors removed one of Kinayda's ovaries. But her parents were relieved to learn that, unlike many stromal tumors, hers was not cancerous. As a result, she didn't need chemotherapy, which could have damaged her remaining ovary.
Eight years later, that doesn't mean much to the 11-year-old.
But in just a few years, her fertility will likely be much more important to her. Each year, she has an abdominal ultrasound to make sure that her remaining ovary is healthy.
Her mother, Galina, said doctors haven't been able to tell them if there's a significant risk of the tumor returning because there are so few cases like Kinayda's.
"I try not to think the worst, but there's always that underlying possibility that she'll never be able to have children and I don't want that choice taken away from her," Galina said.
Kinayda's family is planning to donate her stored tumor cells to the stromal tumor registry in the hopes that researchers will be able to learn more about the disease.
There are three types of stromal tumors that will be included in the registry: Sertoli Leydig cell tumors, juvenile granulosa cell tumors and gynandroblastomas.
Already, researchers have learned that there may be a connection between stromal tumors and a rare form of lung cancer. A similar cancer registry revealed that people who have pleural pulminary blastoma, or PPB, have a higher than expected rate of sex cord-stromal tumors. Researchers have linked PPB to a mutation in a gene called Dicer1.
Schultz suspects that genes may also play a role in patients with stromal tumors.
"So one of the first questions we'll try to answer using information from this registry is the connection between that gene mutation, that really important gene in human development, and ovarian tumors," she said.
The answer to that question could eventually have implications for other cancers. Schultz said researchers have discovered that the lung cancer PPB has a subtype that starts to form a tumor and then for reasons no one understands, turns itself off.
"What if we could figure that out?" she asked. "Why did that particular tumor in that child's lung turn off, where this one on the other side, the left lung let's say, continued and became a very aggressive malignancy that required surgery, chemotherapy, radiation?"
The PPB registry has generated this data based on just a few hundred cases worldwide.
Schultz hopes she will be able to enroll 65 current and former patients in her stromal tumor registry within the first three years.
One of them will be 22-year-old Emily Spiegeler, of Annandale, Minn. Doctors diagnosed Spiegeler with her first ovarian tumor at age 10. Three years later, she developed a different cancer in her other ovary.
"I just hope that in some way my tumor, my experience can help others and we can prevent this and find more specified therapies and ways to screen for ovarian cancer and ways to increase other people's chances," she said.