Molecular Testing Could Provide Earlier Diagnosis of Rare Paget’s Associated Bone Cancer


In 2016, a research student from Norwich, Darrell Green, was the recipient of the Allan Reid Student Research Bursary to pursue exciting research into a rare bone cancer (osteosarcoma) associated with Paget’s Disease of Bone.

Allan Reid, from Glasgow, was unlucky enough to develop osteosarcoma arising from Paget’s disease. Whilst this is a very rare complication, it is a devastating illness, with a poor prognosis. Allan died in 2014, aged 57, just 7 years after he was first diagnosed with Paget’s. To enable some good to come out of his death, his distraught family, friends and colleagues, set about raising thousands of pounds for the Paget’s Association. It was fitting that a bursary be named in Allan’s memory.

The bursary helped support a study at the University of East Anglia (UEA). There researchers have discovered a way to identify the type of bone cancer seen to arise in some sufferers of Paget’s disease of bone, which is often missed until it is too advanced to treat.

Paget’s disease of bone affects the cycle of bone renewal, weakening and deforming bones and is quite common in people over the age of 50. Usually this condition is not life-threatening by itself but in just under 1 per cent of patients a type of bone cancer known as osteosarcoma can develop.
According to a letter published in the journal Endocrine Related Cancer today, the team from the University of East Anglia have identified a molecule, which regulates a gene known to cause Paget’s disease and thought to cause its subsequent transformation into bone cancer.

Researchers used next generation sequencing to investigate the expression of microRNAs – molecules essential in many biological functions – and compared results from patients with Paget’s disease, patients with Paget’s disease and established osteosarcoma, and patients with neither.
They identified a particular microRNA called miR-16, which appeared to be expressed at a low level in cases of Paget’s disease, but switches to a high expression in cases of Paget’s disease with osteosarcoma. Although the study used a small sample number, the results are a promising step forward in diagnosing the cancer.

Dr Darrell Green from UEA’s Norwich Medical School said, “Study of Paget’s associated osteosarcoma is particularly difficult because it is a very rare cancer and availability at tissue banks is scarce. This small study however, shows that molecular testing could provide a robust diagnosis, which is especially useful in rare cancers. The results are also promising for potentially identifying a mechanism for how Paget's disease arises in the first place”

Professor Bill Fraser from UEA’s Norwich Medical School said, “Day-to-day symptoms of Paget’s disease and Paget’s associated osteosarcoma can be very similar, meaning that in many cases the progression to cancer isn’t spotted until it may be too advanced to treat. This type of testing, detecting the switch of miR-16 expression, could provide the crucial distinction, at an earlier stage of cancer development.”
Professor Roger Francis, Chair of the Paget's Association which part-funded the study said, "This is an exciting paper, demonstrating a possible mechanism for the development of osteosarcoma, a rare complication of Paget's Disease of Bone. Nevertheless, this is a small study and the findings require investigation in future studies”.

This research was funded by cancer charity The Big C and The Paget’s Association. The letter ‘miR-16 is highly expressed in Paget’s associated osteosarcoma’ is published in Endocrine Related Cancer.
The study is available in full by following this link until 11 April 2017.

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Prof Francis and Dr Green