Thousands of cancer patients have been given hope after scientists cracked the genetic code of a rare and deadly form of the disease.
But while the science underlying this report is interesting, it’s not really a “breakthrough”. It looked at a form of ovarian tumour that only occasionally becomes cancerous, rather than “one of the deadliest forms”.
And it focused on the discovery of a single genetic mutation rather than “[cracking] the genetic code”.
The study, carried out by scientists in Canada and published in the New England Journal of Medicine, was looking for mutations that cause a rare form of cancer of the ovaries (and, occasionally, the testes) known as granulosa cell tumours. These tumours occur when certain specialised cells go wrong, and sometimes start over-producing hormones like oestrogen and testosterone.
But the majority of the 6,800 cases of ovarian cancer diagnosed in the UK each year are ‘epithelial cell’ ovarian cancers, which are entirely different. Only about 3-5 per cent of cases in the UK each year are granulosa cell cancers.
Most of their unpleasant effects come from the effects of the hormones they produce, and the physical size of the tumour in the abdomen. For this reason, they’re often caught early. But even after treatment, they often come back – sometimes a long time afterwards. For this reason, they are often described as ‘untreatable’.
Despite this, granulosa cell tumours that are caught early have a good survival rate, and the tumours often don’t spread around the body. Because of this, doctors often describe them as ‘indolent’.
The Canadian scientists found a single mutation in a gene called FOXL2, in almost every one of the 90 granulosa cell tumour samples they analysed.
This is a very striking finding, and suggests that mutations in FOXL2 are a defining feature of granulosa cell tumours.
But on its own, this doesn’t tell us much. Much more research and follow-up is needed to find out how this new knowledge can help us understand why these tumours occur, and whether this can help patients with the disease.
The study is an excellent piece of genetics research, using cutting-edge technology, which yields new insights into the biology of a rare form of ovarian tumour. But it isn’t a ‘breakthrough’ that could ‘offer hope to thousands of women’. It appears that the Telegraph has confused ‘untreatable’ (in this context, where long-term survival rates are high) with ‘terminal’.
Unfortunately the article, as it appeared on the Telegraph website this morning, also confused ‘granulosa’ with ‘granuloma’. Granulomas are ball-like collections of white blood cells that occur after an infection, and have nothing to do with cancer.
Shah, S. et al (2009). Mutation of FOXL2 in Granulosa-Cell Tumors of the Ovary New England Journal of Medicine DOI: 10.1056/NEJMoa0902542