Rare cancers affect relatively few people, but the research behind them is reshaping how we understand ageing, resilience, and longevity. By studying why certain rare cancers develop and how some people resist or survive them, scientists are uncovering insights that could benefit us all. In recognition of Rare Disease Day on 28 February, this article explores how rare cancer research is helping unlock the biological secrets of a longer, healthier life.
Rare Disease Day raises awareness for the more than 300 million people worldwide living with rare conditions. A rare disease affects fewer than 1 in 2,000 people and includes about one in five cancer types1. Because these illnesses are often understudied, researchers have limited knowledge of their causes and treatments. Yet, by exploring rare cancers, scientists are uncovering insights into ageing, cellular repair, and longevity.
Why Rare Cancers Offer Unique Scientific Insights
Extremes teach us the most
72 per cent of rare diseases are genetic in nature, and 70 per cent start in childhood1. Because they are so uncommon, there are fewer people to study, leaving researchers with limited data to develop treatments or cures. Yet, these extremes are what make rare diseases scientifically valuable.
The biology underlying these rare conditions is often very complicated. By researching these rare cases, scientists have been able to enrich their understanding of cancer in general and how the body can resist it.
From rarity to relevance
Much of our knowledge of cancer biology and the ageing process has come from studying rare cancers. These unique conditions can help expose the pathways that protect healthy cells or those that fail, promoting disease.
Some examples include:
- Li–Fraumeni syndrome: a genetic condition that increases the risk of several cancers from a young age. Research helped identify the TP53 gene, which tells damaged cells to repair themselves or self-destruct to prevent tumour formation2.
- Xeroderma pigmentosum: hypersensitivity to ultraviolet (UV) radiation from the sun. Research helped us understand how UV exposure damages DNA and can cause skin cancer3.
- Fanconi anaemia: a blood disorder that reveals how cells fix certain kinds of DNA damage, improving our understanding of how DNA damage can drive the development of certain cancers4.
These rare conditions may affect only a few people, but they’ve transformed how we understand and treat cancer across the world.
What Rare Cancer Research Is Teaching Us About Ageing
DNA damage, repair, and longevity
Ageing and cancer are both driven by accumulated DNA damage.
Our cells are constantly dividing to replace old or damaged ones. As we age, they get worse at making accurate DNA copies to pass on to new cells. Some mistakes are fine, but over time, they build up and create dysfunctional cells5.
These faulty cells make our bodies less effective overall and more susceptible to disease. Some trigger their own destruction by the immune system, while others divide uncontrollably into potentially cancerous growths6. These same mechanisms also drive the ageing process7.
Cellular senescence and immune surveillance
Senescence is the process by which cells permanently stop dividing. This is a built-in safety mechanism to stop damaged cells from dividing. Senescent cells will signal for the immune system to remove them before they can cause any issues7.
Rare cancers highlight what happens when this process fails. Some tumours exploit senescent cells, turning them into cancerous growths, while others allow these cells to accumulate and impair organ function.
Understanding why immune surveillance breaks down offers key insights into both cancer progression and ageing, revealing deep connections between immune function, tumour formation, and age-related decline7.
Metabolism, inflammation, and cancer resistance
Rare cancers, like pheochromocytoma and paraganglioma, can change how their cells metabolise (use energy). These tumours use huge amounts of sugar to fuel rapid, uncontrolled growth while sending out lots of inflammatory signals8.
This chronic inflammation overwhelms the immune system, allowing tumours to grow and spread to other tissues undetected.
Studying these rare cases helped scientists understand the relationship between metabolism and how tumours evade the immune system. This helped identify targets that could be manipulated to help treat cancer9.
From Rare Cancer Discoveries to Everyday Longevity Science
How breakthroughs scale up
Treatments developed for rare cancers are often used to manage more common cancers.
Imatinib is a drug that was first approved for a rare type of stomach tumour, but is now used to treat chronic myeloid leukemia, a far more common blood cancer. The drug blocks proteins that drive uncontrolled cell division in both diseases10.
Prevention strategies can scale up too. The understanding of the mechanisms of skin cancer from xeroderma pigmentosum research led to the widespread use of sun cream as a preventative measure against skin cancer11.
What this means for healthy ageing
Cellular ageing shares many pathways with cancer, such as DNA damage, a dysfunctional immune system, and changes to cellular metabolism.
Insights from rare cancers emphasise prevention over treatment. Regular screenings can help spot early signs of disease, a healthy lifestyle can maintain a strong metabolism, and a robust immune system helps us clear senescent cells before they accumulate and cause disease12.
Studying extremes builds resilience for everyone, keeping us healthier longer.
The Role of Imaging and Early Detection in Longevity
Imaging as a research and prevention tool
Magnetic Resonance Imaging (MRI) uses magnets and radio waves to make detailed 3D images of soft tissue. This can be used to spot early signs of cancers and other diseases. This helps researchers understand the processes to develop treatments and cures13.
Other imaging technologies like Computed Tomography (CT) or Positron Emission Tomography (PET) can give different insights, helping scientists pinpoint targets for new treatments14.
Ezra’s role in proactive longevity-focused health
Ezra’s Multi-Organ MRI screens up to 14 organs and 500+ conditions.
Early detection provides the most treatment options, best outcomes, and supports cancer research.
MRIs are non-invasive, radiation-free, and suitable for people with long-term health issues. At Ezra, expert radiologists are assisted with AI technology to provide insights into your scan.
Proactive screening gives peace of mind and control over your health.
Conclusion
Rare cancer research is helping unlock the mechanisms behind ageing and longevity. The insights from studying these diseases are beneficial for everyone as they help us understand the ageing process.
Rare Disease Day is on the 28th of February 2026, and by supporting awareness, research, and proactive health choices, you can help further the important and life-changing research going on.
Book your Ezra multi-organ MRI today. Our expert radiology team can help to identify early signs of cancer and over 500 non-cancerous conditions.
Understand your risk for cancer with our 5 minute quiz.
Our scan is designed to detect potential cancer early.
References
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2. Malkin D, Li FP, Strong LC, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990;250(4985):1233-1238. doi:10.1126/science.1978757
3. Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature. 1968;218(5142):652-656. doi:10.1038/218652a0
4. Chen H, Zhang S, Wu Z. Fanconi anemia pathway defects in inherited and sporadic cancers. Transl Pediatr. 2014;3(4):300-304. doi:10.3978/j.issn.2224-4336.2014.07.05
5. Cancer Research UK. How do normal cells and tissues grow? | Cancer Research UK. Accessed February 25, 2026. https://cancerresearchuk.org/about-cancer/what-is-cancer/how-cancer-start-grow-spread/how-cells-and-tissues-grow
6. Desdín-Micó G, Soto-Heredero G, Aranda JF, et al. T cells with dysfunctional mitochondria induce multimorbidity and premature senescence. Science. 2020;368(6497):1371-1376. doi:10.1126/science.aax0860
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8. Yang Y, Zhou T, Zhao X, et al. Main mechanisms and clinical implications of alterations in energy expenditure state among patients with pheochromocytoma and paraganglioma: A review. Medicine (Baltimore). 2024;103(17):e37916. doi:10.1097/MD.0000000000037916
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11. Kondoh M, Ueda M, Nakagawa K, Ichihashi M. Siblings with xeroderma pigmentosum complementation group A with different skin cancer development: importance of sun protection at an early age. J Am Acad Dermatol. 1994;31(6):993-996. doi:10.1016/s0190-9622(94)70270-5
12. Trastus LA, d’Adda di Fagagna F. The complex interplay between aging and cancer. Nat Aging. 2025;5(3):350-365. doi:10.1038/s43587-025-00827-z
13. Winfield JM, Payne GS, deSouza NM. Functional MRI and CT biomarkers in oncology. Eur J Nucl Med Mol Imaging. 2015;42(4):562-578. doi:10.1007/s00259-014-2979-0
14. Zhu Y, Shen B, Pei X, Liu H, Li G. CT, MRI, and PET imaging features in cervical cancer staging and lymph node metastasis. Am J Transl Res. 2021;13(9):10536-10544.
Image taken from Fig. 5, and used under the Creative Commons license.
