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MyPART physician Dr. Juan Carlos Fierro Pineda didn’t always work in rare tumor research. After completing medical school in Mexico, he worked as an emergency room physician there for six years. During his time in Mexico, he also worked on pharmaceutical company-sponsored clinical trials, which he says, “sparked my interest in basic sciences and research, and I became increasingly drawn to the field of pediatric oncology, with a particular interest in immunotherapy.” To pursue this new passion, he came to the US to train as a pediatrician, and subsequently joined the National Cancer Institute (NCI) through a joint hematology and oncology fellowship between Johns Hopkins University and the NCI. Now, he conducts clinical research on immunotherapy in rare tumors. But his original connection to Mexico would prove to be life-changing for a young adult with a rare cancer.
Gabriel, a young adult studying medicine in Mexico, developed a tumor in his liver. He was diagnosed with metastatic hepatocellular carcinoma. The tumor was large, and his doctors gave him little hope and recommended palliative care. Then, a doctor who knew of Dr. Fierro Pineda’s interest in rare pediatric tumors contacted him about Gabriel’s diagnosis. Dr. Fierro Pineda says, “Something didn't add up... given his age and no history of liver disease, I suspected that Gabriel might actually be suffering from fibrolamellar carcinoma, an ultra-rare form of liver cancer that [comprises] only 1% of all liver cancers. This was a challenging diagnosis, and it required a specialized approach that is typically only available at world-renowned centers like the National Institutes of Health (NIH) in the United States.”
To confirm Gabriel’s diagnosis, Dr. Fierro Pineda worked with collaborators from within the NIH, Johns Hopkins, and Dana Farber Cancer Institute. His suspicion was confirmed – Gabriel did indeed have fibrolamellar carcinoma. Dr. Fierro Pineda explains, “Accurate diagnosis is essential in treating any cancer, but especially so for rare cancers, where treatments may not be well established.”
Dr. Jonathan Hernandez, a hepatobiliary surgeon and Chief of the NCI’s Surgical Oncology Program, was able to successfully remove Gabriel’s tumor during a complicated surgery. Gabriel is now back in Mexico and doing well. Thanks to a truly collaborative effort, Gabriel was able to receive the correct diagnosis and life-saving treatment. His health continues to be monitored by both his medical team in Mexico and the team here in the US. Dr. Fierro Pineda says, “Gabriel's story underscores the importance of collaboration between institutions and specialties in treating rare cancers. Because these cancers are so rare, it's essential to pool resources and expertise to improve patient outcomes.”
Dr. Fierro Pineda also highlighted the unique environment of the NIH as a place to conduct rare cancer research. NIH researchers and clinicians are highly collaborative and have access to a wide range of resources to help the unique population of patients, which includes patients with rare and complex diseases. He says, “I have become even more convinced that the NIH is where I can make the greatest impact in the field of rare tumors.” Dr. Fierro Pineda continues, “I believe that everyone deserves access to quality healthcare, regardless of their background or circumstances. Let's hope that Gabriel's success story can inspire more collaboration and research into rare cancers, ultimately improving outcomes for patients around the world.”
 Left: Gabriel receiving treatment. Right: Dr. Juan Carlos Fierro Pineda and Gabriel in front of the NIH Clinical Center.
SDH-RA (SDH-Deficient Cancer Research Advocates) is a patient-led organization that supports people with SDH-deficient cancers and facilitates research to find a cure. The gene SDH, which encodes the enzyme succinate dehydrogenase and is important in metabolism, is mutated in SDH-deficient cancers. SDH-deficient tumors, which can run in families, include SDH-deficient gastrointestinal stromal tumors (GIST), paragangliomas, renal cell carcinomas, and pheochromocytomas. As a patient-led organization, SDH-RA understands the patient experience and is uniquely suited to advocate for people with SDH-deficient cancers, which have few treatment options. SDH-RA provides a variety of support resources, including access to podcasts, webinars, and available clinics. The SDH-RA website also hosts in depth information about SDH-deficient diseases and answers frequently asked questions about SDH-deficient GIST in the Q&A/Blog section of the website.
The SDH-RA motto is “patients helping patients.” The organization coordinates a private Facebook group to answer questions, refer patients to specialists, and provide one-on-one support. To facilitate research efforts, SDH-RA helps transfer tumor tissue from patients’ surgeries to researchers who are studying SDH-deficient cancers and are working on creating research models. SDH-RA also works to educate patients with SDH-deficient cancers about why donating tumor tissue to research is important for research progress. SDH-RA Co-founder, Cathy Freeman says, “I spend hours a day answering questions from newly diagnosed patients. I educate them on the latest protocols to treat and monitor their disease, often referring them to NIH. These patients are in shock and have few places they can ask questions. I’ve mentored patients around the world helping them find them specialists in their own countries. I am currently helping women with SDHB GISTs in Ukraine, France, Germany, Britain, and as well as the US and Canada. Many have thanked me for saving their lives.”
MyPART welcomes SDH-RA as an advocacy partner with the shared vision of providing support and advancing research in rare tumors. Learn more about our advocacy partners here.
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 Left: On the stage from left to right, Dr. Abby Sandler (NCI), Dr. Lori Wiener (NCI), and Alison Silberman (Stupid Cancer, Inc.). Hilary Gan (Teen Cancer America, Inc.) joins the panel virtually for Rare Disease Day at NIH on Feb. 28th, 2023. Right: Attendees of Rare Disease Day at NIH participate in the panel led by Dr. Abby Sandler.
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MyPART Executive Director Dr. Abby Sandler hosted a panel at Rare Disease Day at NIH on February 28, 2023 entitled “Meeting the Needs of Adolescent and Young Adult (AYA) Rare Disease Patients.” She was joined by Hilary Gan, Director of Hospital Programs and Services at Teen Cancer America, Inc., Alison Silberman, CEO of Stupid Cancer, Inc., and Dr. Lori Wiener, Head of the NCI Center for Cancer Research (CCR) Pediatric Oncology Branch’s Psychosocial Support and Research Program. Each speaker highlighted the unique challenges and needs of AYAs with rare disease and chronic illness, which are different than pediatric and adult populations. AYA challenges include trying to fit into a health system that is set up to accommodate pediatric or adult patients but not those aged in between, a lack of community due to being diagnosed at a young age, navigating their own health care as they transition out of the pediatric clinic, and thinking about the future of their career, school, fertility, and finances (potentially including difficult end-of-life considerations).
Hilary Gan discussed Teen Cancer America’s efforts to work with hospital systems to create AYA programs to address these unique needs. She explained key elements for a successful AYA program, including age-appropriate clinical care and environment, health insurance and financial counseling, fertility counseling, psychosocial support, educational and occupational support, and more. She noted that most AYA patients attend community hospitals (and not larger academic institutions which may have more specialized programs) because of health insurance constraints.
Alison Silberman discussed Stupid Cancer’s support programs for AYAs with cancer. She highlighted how AYAs are a historically underserved patient population. They don’t tend to see themselves (or others like them) in hospital waiting rooms or the healthcare setting, which can make them feel isolated. Stupid Cancer helps AYAs find connection to feel less alone in their cancer journey, including webinars, meetups, and their flagship program, CancerCon, which brings together hundreds of patients and advocates for one unforgettable weekend each year.
Dr. Lori Wiener discussed her research on advanced care planning for young adults. Often, families want to have end of life discussions but are unsure when or how to do so. Voicing my CHOiCES is an advanced care planning guide tailored to young adults. The document allows AYA patients to outline how they wish to be treated towards the end of their life and how they would like to be remembered. The document also addresses unique concerns for AYAs, like who should have access to their social media accounts after they pass. Voicing my CHOiCES is now available in 42 countries with over 55,000 copies distributed. Importantly, results from a study on Voicing my CHOiCES showed that anxiety was reduced after reviewing Voicing my CHOiCES and the document facilitated more discussions about end-of-life care.
The panel provided a timely opportunity to discuss the unique needs of a population that also shares the challenges faced by those with rare diseases. Learn more about Rare Disease Day at NIH here. Access support resources for AYAs with cancer on the MyPART website here.
- MyPART postbaccalaureate fellow Shadin Ahmed presented a poster about MyPART’s Natural History of Rare Solid Tumors at the San Antonio Pediatric Cancer Symposium in San Antonio, TX Feb 19-22, 2023.
- MyPART Executive Director Dr. Abby Sandler and Dr. Lori Wiener were interviewed in a Rare Disease Advisor Feature entitled, “Adolescents and Young Adults With Rare Cancers Face a Unique Set of Challenges.”
- Featured Clinical Trial: KOMET study. This is a Phase III study enrolling adult patients ages 18 and older with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas to test the safety and efficacy of selumetinib. Selumetinib was approved in 2020 for children ages 2 years and older with NF1 and inoperable plexiform neurofibromas. The clinical trial leading to Selumetinib’s approval in the pediatric NF setting showed the drug shrank plexiform neurofibromas in 70% of pediatric patients, with many patients also reporting improvements in pain, function, and quality of life. The KOMET study is enrolling patients in the US in Florida, Maryland, Missouri, and New York, and is also enrolling patients in Australia, Brazil, Canada, China, France, Germany, Italy, Japan, Poland, Spain, and the United Kingdom. Learn more about this study here.
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March is Kidney Cancer Awareness Month. MyPART studies rare kidney tumors through its Natural History Study of Rare Solid Tumors. Learn more about rare kidney tumors here.
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March 24th: Childhood Cancer Data Initiative Annual Symposium. The annual symposium will take place virtually from 9am-5pm ET. Learn more about the event, register to attend, and view the agenda here.
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April is Esophageal Cancer Awareness Month. Learn more about esophageal cancer here.
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May is Neurofibromatosis (NF) Awareness Month and May 17 is Neurofibromatosis Awareness Day. Neurofibromatosis refers to three genetic conditions (NF1, NF2, and schwannomatosis) that can lead to the development of tumors throughout the nerves in the body, along with a variety of other symptoms. Learn more about how the NCI CCR Pediatric Oncology Branch studies NF1 and NF2 here. MyPART studies rare nerve tumors, including schwannomas and malignant peripheral nerve sheath tumors. Learn more here.
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