Together, united to achieve greater equity on Rare Disease Day!

Since 2008, Rare Disease Day has united people worldwide to raise awareness of rare diseases and the challenges they bring. Held annually on the last day of February, it highlights conditions that often go unnoticed.

This February 28, the World Bladder Cancer Patient Coalition (WBCPC) is supporting the campaign to improve care, research, and treatment for all rare diseases, including rare types of bladder cancer. Even though these cancers are uncommon, they greatly affect those diagnosed.

Understanding rare types of bladder cancers

Bladder cancer is among the most common cancers globally, with over 614,000 people diagnosed each year. However, rare forms of bladder cancer, such as urachal cancer, small cell carcinoma, plasmacytoid carcinoma, and others, make up only 3% to 5% of all bladder cancer cases. Due to their rarity, these cancers are often misdiagnosed, under-researched, and lack effective, targeted treatment options.

Urachal cancer, for example, is an extremely rare type of bladder cancer that develops from the urachus, a structure that connects the bladder to the umbilical cord during fetal development but typically disappears before birth. Research on urachal cancer has been limited due to the small number of cases, making it difficult to develop specific treatment guidelines. However, a new study recently published in Nature has provided significant insights by analysing the largest collection of urachal tumor samples to date.

The study found important genetic changes linked to urachal cancer:

• TP53 mutations (66% of cases) – These affect a gene that helps prevent tumours from forming.
• KRAS mutations (21% of cases) – These are linked to cancer growth and spread.
• BRAF mutations (4% of cases) – These changes can cause tumours to develop in different types of cancer.
• PIK3CA mutations (4% of cases) – These affect how cells grow and survive.

The study also found that urachal cancers have unique molecular traits that set them apart from typical bladder cancers. This means treatment approaches should be designed specifically for these patients. Many urachal tumours share characteristics with colorectal and gastrointestinal cancers, so treatments used for those cancers might also work for urachal cancer patients.

Additionally, researchers identified the potential of immunotherapy and targeted treatments for specific genetic mutations. This marks a critical step toward more personalised treatment approaches that could improve outcomes for people affected by rare bladder cancers.

Why Rare Disease Day matters for bladder cancer patients

Patients with rare bladder cancers often struggle to find the information, support, and treatments they need. Because these conditions are less well-known, they may be diagnosed late, when treatment options are more limited. Moreover, clinical trials and research studies tend to focus on more common types of bladder cancer, leaving patients with rare types with fewer treatment advances.

At WBCPC, we believe that no patient should be left behind. Rare Disease Day is an opportunity to raise awareness and push for:

• More research to better understand rare bladder cancers and develop targeted therapies.
• Increased access to treatment options, including clinical trials for patients with rare forms of the disease.
• A stronger patient community to provide support and advocacy for those affected by rare bladder cancers.

How you can help

We invite everyone; patients, families, healthcare professionals, and advocates—to join us in raising awareness of rare bladder cancers. To support the cause:

• Share the Rare Disease Day social media resources with your networks.
• Use your voice to elevate patient stories and encourage more research and funding.
• Engage with us online and tag us in your posts to spread the message further.

By raising our voices together, we can raise awareness of rare bladder cancers and ensure that every patient, no matter how rare their condition, gets the care and treatment they need.

Reference: Grose, D., Dadhania, V., Kerr, R., & Black, P. C. (2024). Comprehensive molecular analysis of urachal carcinoma reveals distinct genetic profiles and potential therapeutic targets. npj Precision Oncology, 8, Article 12. Available at: https://www.nature.com/articles/s41698-024-00795-4