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Spotlight on rare cancers for rare disease day

Rare Disease Day this year falls on the similarly rare 29th February 2016. We take this opportunity to explore some of the less common types of cancer and what work is being done to understand them better.

Hope for children with Ewing’s Sarcoma

Dr Maria Paola Paronetto, Fondazione Santa Lucia, Rome, Italy is investigating the rare bone cancer, Ewing’s Sarcoma.  Ewing’s Sarcoma (ES) is mainly found in teenagers and young adults, which is rare for cancer which usually affects older people.  Ewing’s Sarcoma can develop anywhere in the body, although it most often starts in the bone.  If caught early, before it has spread, 70% of patients survive for at least 5 years after diagnosis.  But that means 30% of patients have died less than 5 years after diagnosis.  The survival rate also decreases the more advanced the disease is when diagnosed.

Dr Paronetto told us “I work on the rare cancer Ewing’s sarcoma because it is a cruel tumour, which nestles into bone and soft tissue of children.  We need a better solution than amputation and multidrug chemotherapy.  If successful, I hope my research will help affected children have a greater chance of a normal life.”

Oncocytomas – how is the cell’s power house involved?

Dr Giuseppe Gasparre at the University of Bologna, Italy is investigating how cellular powerhouses in our cells can become mutated.  These mutations stop the cells from growing and force them into a sleep-like state.

Dr Gasparre told us “In some families, the accumulation of DNA mutations in the powerplants (mitochondria) in tumors is a recurrent event, happening in parents, children and grandchildren etc.  These mutations lead to so-called ‘oncocytic tumors’, which are generally benign (non-cancerous) but can be precancerous or indeed cancerous.”

When asked about the aim of his work he told us “If we understand how these oncocytic tumour cells enter the slow growing sleep-like state it could be exploited with the use of drugs to make other, more dangerous cancer cells do the same.”

Although all of these cancer types may not affect large numbers of people, they have a big impact on those diagnosed and their families.  Worldwide Cancer Research is dedicated to working towards the day when no life is cut short by cancer, regardless of how common the cancer type is.