Susan Sangrey* was pregnant with her second child when an elevated level of a particular protein concerned her doctor. Alpha-fetoprotein is supposed to circulate during pregnancy, but Sangrey’s levels were high enough to indicate that her fetus might have a potentially fatal brain anomaly.
An ultrasound several weeks later clarified the situation — but not for the better. AFP is also a tumor marker that can indicate the presence of cancer. The ultrasound connected the dots, revealing an enlarged left ovary; the unexpectedly high levels of AFP reflected that Sangrey, 39, had a Sertoli-Leydig cell tumor on that ovary, a type of tumor that can be linked to a particular genetic mutation, DICER1, that she was also found to carry. The DICER1 mutation increases the risk of certain types of tumors, including tumors of the kidney, thyroid, ovary, cervix, testicle, brain, eye, and lining of the lung.
“Cancer is horrible for anyone, but it was more stressful because I was pregnant,” Sangrey said. “When I was first diagnosed, I would go in my closet and cry really loudly. It was shocking.”
But the more Sangrey thought about her diagnosis, it solved a puzzle in her life. In 2000 when she was 16, her younger sister had a 10-pound Sertoli-Leydig ovarian tumor removed. About 30% of women with DICER1 develop some kind of cancer, many gynecologic in nature. Sangrey’s sister survived, with her family attributing the cancer to bad luck.
Genetic counseling wasn’t as common as it is today, so it wasn’t recommended for her sister. “In retrospect, you can see how it runs in your family,” said Sangrey, a fifth-grade teacher. “We’re much more aware now.”
Sangrey had surgery to remove the tumor but wasn’t sure what steps to take next. One doctor suggested she deliver early at 34 weeks (a pregnancy usually lasts around 40 weeks) and then start chemotherapy, but Sangrey didn’t want either option, a premature birth or waiting three months to begin treatment until the baby was born.
She sought a second opinion with Dr. Elizabeth Swisher, head of gynecologic oncology at Fred Hutchinson Cancer Center. Swisher consulted with colleagues throughout the U.S. and reviewed studies from Europe before advising Sangrey to start chemo immediately.
“I wanted to survive,” said Sangrey. “I didn’t want to wait, and I really connected with Dr. Swisher over that.”
DICER1 is a rare cancer predisposition syndrome, and Sertoli-Leydig cell tumors during pregnancy are even rarer — so uncommon that Swisher is publishing an overview of Sangrey’s case in a medical journal, Gynecologic Oncology Case Reports.
Developing a treatment plan for Sangrey was challenging because there was no precedent for caring for a pregnant patient with a DICER1 mutation.
“When we make recommendations for women with BRCA mutations, we have a lot of data about how likely they are to get cancer at various ages,” said Swisher. “But with DICER1, it’s a total black hole. I can’t make a strong recommendation that she should or shouldn’t do this. My goal is to give patients the best information we have and help them reach the best choice for themselves, while trying to support them in whatever decision they make, not to try to convince them about what I think is the best choice.”
Administering chemotherapy to a pregnant woman has its own unique concerns as doctors don’t want to harm the developing fetus. Swisher opted for a combination of drugs that had lower toxicity to the fetus than other comparable drugs but were likely to be just as effective for Sangrey.
“We like to give patients hard numbers, but we don’t have hard numbers in this situation,” said Swisher. “It’s one thing when you’re making decisions only for yourself and another when you have a desired pregnancy and a 6-year-old you want to be around for. These are very difficult decisions.”
Sangrey was early in her second trimester when she started chemo, experiencing few side effects apart from feeling tired and itchy. Then, in January 2021, Sangrey’s son was born full-term. He was a healthy baby aside from the results of his umbilical cord blood testing, which were positive for DICER1. Sangrey’s daughter, now 6 years old, tested positive too, catapulting both children into a world of regularly scheduled scans to detect any potential cancers early.
About one in 10,000 people carry a DICER1 mutation, said Dr. Michelle Ting, medical director of Seattle Children’s cancer predisposition clinic and Sangrey’s children’s primary pediatric oncologist. “That said, as we test more children, we are discovering it more and more,” said Ting. “We certainly have more than one child we follow in clinic with DICER1 syndrome.”
The DICER1 gene plays an important role in regulating expression of other genes, which in turn aids in the prevention of tumors. When it’s mutated in a cell, that cell may grow in an uncontrolled manner and allow tumors to form. People with DICER1 syndrome have an increased risk of developing tumors — both malignant and benign — most commonly in the lungs, kidneys, ovaries and thyroid. The tumors typically occur before age 40.
Sangrey’s daughter’s scans have been clear, but a CT scan identified four lung tumors in her son when he was six months old. One was removed, and the other three are stable and being monitored. A rare sub-type of lung cancer is the most common type of cancer that affects children with DICER1 mutations.
Sangrey is monitored every six months to make sure she hasn’t developed cancer in her right ovary, which she opted to keep to avoid early menopause.
“The scanxiety is real,” she said. “We try to live life like normal because otherwise we will go crazy.”
Ting acknowledged that the frequent imaging recommended for people with hereditary cancer syndromes can cause families significant stress. But it can also provide a sense of purpose.
“In some ways, families feel empowered because at least there is something they can do to alter outcomes,” said Ting. “The focus of medical care is on surveillance and screening with the goal that surveillance leads to early detection, which hopefully leads to improved outcomes.”
But it can be challenging to convey that concept to a young child. Over the years, Ting has become practiced at the conversation. When explaining the reason for all the scans to Sangrey’s daughter, Ting tells her that she has a genetic change in her body that puts her at increased risk of developing tumors, which is why she has to go to the hospital so often for pictures to keep her body healthy.
Doctors at Seattle Children’s cancer predisposition clinic work closely with Dr. Marianne Dubard-Gault, medical director of Fred Hutch’s Cancer Genetics Program so that young adults can easily transition from pediatric to adult care in their late teens and early 20s.
Collaboration across care teams extends to providers in the community. Sangrey elected to continue seeing her local obstetrician, supported by Swisher along with the maternal-fetal medicine doctors at UW Medicine. “We regularly provide our specialty expertise to patients who are getting care in the community,” said Swisher. “We were able to help with the complicated parts of her pregnancy so she could continue her prenatal care with her local ob/gyn, who felt well-supported. It’s a two-way street in terms of how we approach patient care.”
*This patient asked to use a pseudonym.
To learn more about genetic counseling and testing and whether it’s appropriate for you, go to Fred Hutch’s Clinical Genetics and Genetic Counseling page.
Bonnie Rochman is a staff writer at Fred Hutchinson Cancer Center. A former health and parenting writer for Time, she has written a popular science book about genetics, "The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids—and the Kids We Have." Reach her at firstname.lastname@example.org.
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