Family medical history is essential in helping doctors diagnose and treat patients and potentially saving lives through knowledge and early detection.
A prime example involves a teen, Emma, with several female family members who developed a Sertoli-Leydig cell tumor (SLCT), a rare form of ovarian cancer caused by a mutation in the DICER1 gene. Due to Emma’s probability of also having the gene mutation, she and her parents took a proactive approach and opted for genetic testing.
“My husband’s sister had ovarian cancer about 40 years ago, and then her daughter had ovarian cancer at a very young age and she’s had both her ovaries removed,” said Emma’s mom. “My mother-in-law died from ovarian cancer, so we figured there was some form of genetic link. When my husband tested positive for the same gene mutation, we knew Emma needed to be tested.”
The family worked with a children’s hospital in Denver, which performed genetic testing and confirmed that Emma had the gene mutation. She was monitored twice a year via transabdominal ultrasounds to watch for signs of developing cancer.
While the ultrasounds and subsequent lab work appeared to be within normal ranges, Emma began missing her menstrual cycles, indicating that something was wrong. Again, her family was proactive and asked to be referred to a gynecologist. They were referred to Stephanie Wright, D.O., a pediatric gynecologist and OBGYN at Pediatrix® Gynecology of the Rocky Mountains.
“One of the things we were looking for was higher levels of testosterone, something that is often prevalent in people with a Sertoli-Leydig cell tumor,” said Dr. Wright. “While her lab work indicated normal testosterone levels and the ultrasounds appeared normal, we already knew she was predisposed to developing ovarian cancer, so I ordered more lab work and repeated the ultrasound.”
What may have appeared normal to some, from Dr. Wright’s perspective, Emma’s testosterone levels were too high for her age and gender. The report from the ultrasound indicated a “non-enhancing” lesion on one of her ovaries, signifying that it was non-cancerous. Still, Dr. Wright felt something was wrong, so she ordered an MRI (magnetic resonance imaging).
“We were amazed at how quickly Dr. Wright sprang into action,” said Emma’s mom. “Even though some of the tests indicated that everything was fine, she wasn’t satisfied until she knew exactly what we were dealing with. Once she saw something on the ultrasound, she wasted no time getting to the root of it.”
Faced with their deepest fears, the MRI revealed that Emma had a malignant Sertoli-Leydig cell tumor.
“With the knowledge we had about her family’s medical history and genetic mutation, I wasn’t taking any chances,” said Dr. Wright. “I visited with Emma and her parents, and we agreed that the tumor should be removed as soon as possible.”
A Multidisciplinary Approach for a Successful Outcome
With a deep understanding that each medical professional brings a unique perspective and expertise, Dr. Wright adopted a cohesive team approach to help ensure the best outcome for Emma. She collaborated with various specialists involved in Emma’s care to ensure they were aligned with her treatment plan and given the opportunity to provide input before surgery.
At this time, Emma’s family connected with Children’s Hospital of Minnesota, also known as Children’s Minnesota, and had Emma added to their DICER1 registry, designed to improve outcomes for children and adults with DICER1-related cancers. Dr. Wright also consulted with the Minnesota physician managing the registry.
“In Emma’s case, we had one shot to get this right because recurrence wasn’t an option,” said Dr. Wright. “Bringing together the expertise of various specialists enabled us to provide personalized and integrated care that addressed Emma’s unique needs.”
Knowing that specialists from different institutions were working together on Emma’s behalf reassured her and her family.
“The information and choices are overwhelming when given an initial diagnosis,” said Emma’s mom. “Dr. Wright patiently stepped through the information with us and explained the information and answered our questions clearly. Her knowledge and ability to communicate allowed her to meet us where we were at and gave us the confidence to make our decision. We are so very grateful for all of her help in navigating a very difficult time.”
Within a week, Dr. Wright had Emma in the operating room, and her surgery was successful. Dr. Wright performed a unilateral oophorectomy, removing the tumor and the entire affected ovary and preventing the spread of cancer and any chance of recurrence. While it was a life-saving procedure, Emma still has her other ovary, which will need to be closely monitored because of the DICER1 genetic mutation.
“We are grateful to Dr. Wright for her persistence in finding Emma’s malignancy and working so diligently to make sure Emma received the exact care she needed, when she needed it,” said Emma’s mom. “Our intuition told us that something wasn’t right based on Emma’s symptoms, and Dr. Wright listened to us rather than relying solely on test results.”
A Silver Lining
While this has been a difficult journey for Emma and her family, there is a silver lining. Dr. Wright extracted a fresh tissue sample from Emma’s tumor that can be used in medical research.
Research on DICER1 gene mutations and related conditions is an active area of study in pediatric oncology. Researchers and medical professionals at various institutions, such as Children’s Minnesota, are dedicated to understanding the underlying mechanisms, improving diagnoses and developing effective treatments for DICER1-related conditions.
“My sister-in-law, through her own experience and that of her daughter, guided us to have Emma added to Children’s Hospital of Minnesota’s registry,” said Emma’s mom. “We take comfort knowing that her fresh tissue sample will be vital in research efforts that may lead to new therapies and treatments for those with the DICER1 gene mutation.”
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