‘Something remarkable is happening’: Genetic mutations found in cancer super survivors

A remarkable combination of genetic mutations in “exceptional survivors” of ovarian cancer could explain how these women outlived their deadly diagnosis for more than a decade, against all odds.

“Something really remarkable is happening in these patients,” Bowtell said. “These are the worst of the worst in terms of prognosis and we wouldn’t expect them to respond to chemotherapy yet here they are surviving.”“These patients had a very interesting immunological response to their cancer involving their CD4 T cells [which help coordinated the body’s immune response], which are known to be associated with better survival in cancers but have been in the shadows.

She was trying to get pregnant when she mentioned some pain to her fertility specialist. An ultrasound picked up a six-centimetre mass on her left ovary. Grout is mother to three children, 13-year-old Emily, and twin boys Daniel and Thomas, which she conceived via egg donation. Bowtell said the findings could help explain why some patients respond well to treatment and others don’t, as well as open up avenues for a more direct approach to immunotherapy in these patients, which so far has been unsuccessful.

“There might be something inherent in the biology of these long-term survivors that almost does the same thing,” Ford said.

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