She didn’t see it coming.
On April 14, 2015, a volleyball struck 17-year-old Lauren Loisel right in the forehead. “I had a concussion,” says Loisel, now 23. “As a softball player, I’d had my share of concussions, but this was the worst I’d ever experienced. I had terrible photosensitivity and I threw up a few times.”
Rather than recover, Loisel developed other, more troubling symptoms towards the end of that month. “I started to lose a significant amount of my eyesight and a few times my legs gave out beneath me.” About four weeks after the accident, she says, she was almost completely blind.
An ophthalmologist noticed swelling around Loisel’s optic nerve. And at the Maine Medical Center, she says, she received her diagnosis: “You have a 3-inch glioblastoma in your right frontal lobe.” The next day, she had surgery to remove the glioblastoma, a type of tumor that forms in glial tissue, non-neuronal cells that support the nervous system.
Children should not get cancer. Their robust immune systems can handle almost any germ on the playground, they heal incredibly quickly, and the DNA in their fresh young cells has not had time to accumulate cancer-causing mutations from environmental factors.
And in fact, childhood cancers are fortunately quite uncommon. Only about two percent of new cancer diagnoses in the U.S. are for people under the age of 30, and less than half of a percent are for children under 10. About a third of childhood cancers are leukemias, and advances in treatments over the past decade have increased significantly dramatic impact.
“Fortunately, our cure rates in pediatrics are much higher than in the adult world,” says Loisel’s oncologist, Stanley Chaleff, MD, at Maine Medical Center’s Maine Children’s Cancer Program in Scarborough. “For the most common childhood cancer, namely acute lymphoblastic leukemia, cure rates with traditional chemotherapy are well over 80 percent, with some subgroups above 95 percent.”
But for the other two-thirds of childhood cancers, it’s that rarity that makes them much harder to treat. Brain tumors and solid tumors that arise in different organs vary widely in type, aggressiveness and outcomes.
“The types of cancer that children get are completely different from the types of cancer that adults get,” says Steven DuBois, MD, MS, director of experimental therapies in the division of pediatric hematology and oncology at the Dana-Farber Cancer Institute in Boston. “Children tend to get so-called embryonic tumors, which grow in immature tissues. It’s normal for developmental biology to go wrong.”
Tumors in children are usually caused by a single, powerful genetic change.
Adults, on the other hand, tend to get carcinomas, cancers that form in epithelial layers such as the lining of the colon or breast ducts. “Carcinomas develop over time,” says Alanna Church, MD, associate director of the molecular pediatric pathology lab at Boston Children’s Hospital. “The cells accumulate multiple mutations over the person’s life and at some point they tip over into cancer.”
Because cancer is so much more common in adults than in children, much more is known about it. Over the past decade, the genomic sequencing of thousands of tumors has revealed mutations — alone and in combination — that can cause cancer. And this vast and growing database provides a roadmap for oncologists to guide more targeted treatment of each patient’s cancer.
“In the world of adult oncology,” Chaleff says, “more and more newly diagnosed patients can begin some of these molecularly targeted therapies, which are not common in pediatrics at all.”
The Jackson Laboratory established the Maine Cancer Genomics Initiative in 2016 with a grant from the Harold Alfond Foundation and has enrolled every oncology practice in Maine. Medical conferences called genomic tumor boards are at the heart of the initiative: oncologists consult with pathology and genomic experts to recommend treatment based on genomic tumor test results.
Chaleff, Church and DuBois are among the pediatric specialists now working with the MCGI, in a new effort launched in early 2020 that aims to provide more targeted treatments to children with cancer. So far, seven pediatric patients have been enrolled — a small number but representing nearly 10 percent of pediatric cancer cases in Maine.
“Working with members of the pediatric oncology community has given me a new appreciation for how different it is to treat children with cancer,” says MCGI medical director Jens Rueter, MD, who typically moderates tumor genomic boards and oversees the development of cancer. enrollment of patients in the MCGI. “They’re not just little adults. And because of the rarity and individuality of childhood cancers, and because there may only be one standard of care available for the more types of cancer, these oncologists are always looking for ways to individualize treatment for each patient. That fits perfectly with the mission of MCGI.”
MCGI The Maine Cancer Genomics Initiative
The Maine Cancer Genomics Initiative (MCGI), a collaboration focused on making the latest personalized medicine available to cancer patients throughout Maine, will now bring new precision clinical oncology trials to the state, supporting access to targeted therapies for patients who are not qualify for trials, and develop new technology to improve genomics education and genetic services through online platforms.
About a year after Loisel’s brain surgery, she was given a new diagnosis, this time for neurofibromatosis type two (NF2), a genetic condition that increases the risk of nervous system tumors. “I had three of the five clinical criteria for NF2,” she tells us, “the brain tumor, the café-au-lait spots I have all over my skin, and a small fibroid tumor in my forearm.”
But Chaleff suspected that the NF2 diagnosis was incorrect. He ordered a DNA test for an inherited condition called constitutional mismatch repair deficiency syndrome (CMDRS), and Loisel’s sample tested positive. CMRDS normally affects DNA repair in children and young adults, putting Loisel at high risk for developing brain, blood and colorectal cancers.
“Basically,” Loisel explains, “having CMRDS means my body doesn’t recognize the difference between normal and cancer cells. My body looks at cancer cells and says, “Come and party!” And I’m like, ‘No, don’t, please don’t join the party!’”
Chaleff put Loisel on a program of frequent screening. Sure enough, Loisel says, “they found three masses in my colon. So I had to drop out of college. I got IV chemotherapy for three months because the cancer in my colon had also jumped to my liver.” In May 2017, Loisel underwent liver surgery, followed by another course of chemotherapy and colon reduction surgery.
Colon cancer, even when it occurs in a teenager, is considered an adult disease. Chaleff consulted with oncologists who treat adults, but continued to treat Loisel at the Maine Children’s Cancer Center, an environment she was familiar with that also provides special support services to children and young adults.
Loisel went back to college and came back four times a year for brain scans. One of the scans showed “a tiny spot,” she says, and by early 2019, a pea-sized mass had grown. After the new mass was excised, Chaleff submitted it, along with a sample of the original glioblastoma, to the JAX CLIA lab for analysis and review by DuBois, Church, and other participants on the MCGI genomic tumor board. He also started Loisel on a newly available immunotherapy.
“The MCGI genomic tumor board allowed us to better understand the tumor,” Chaleff said, “and confirmed our approach to treatment using a molecular targeted therapy. I’m really impressed with The Jackson Laboratory in general, and the MCGI framework of genomic tumor boards in particular,” he says.
And because both of Loisel’s parents carry half the genes that contributed to her CMRDS, they may be at higher risk for cancer, and Chaleff has put her on a screening program as well. Loisel’s sister has no CMRDS related mutations.
“It’s a beautiful family,” Chaleff says, “and she’s a really remarkable young woman.”
Loisel says Chaleff is “such a kind, considerate and caring doctor,” and says the immunotherapy was “phenomenal.” It lets my immune system do what it’s supposed to do. There are no new spots and the side effects are very minimal, unlike the other chemotherapy I’ve had.”
In addition to the huge medical challenges she faced, Loisel had to deal with changing colleges as her program was eliminated, as well as the global pandemic. She still has another year to study before she gets her degree in social work, and she looks forward to a career helping others.
“I try to take it all easy,” she says with a smile.
This iframe contains the logic needed to process Ajax powered Gravity Forms.