A feature in Esquire tells the story of Stephanie Lee, who was diagnosed with colon cancer earlier this year and given not very much time to live, as Tom Junod and Mark Warren write. Lee's case, though as a 36-year-old woman with "an old man's disease," caught the attention of Eric Schadt at Mount Sinai School of Medicine in New York.
Schadt and his colleagues at Mount Sinai examined Lee's tumor, and at first, after sequencing it and her normal tissue, found little they can do for her, though they'd uncovered that she carried predisposing mutations in both the TP53 and APC genes. The Sinai researchers also, though, created fly avatars of her tumor to test drugs on. From that, though, they found a drug approved for another condition that appeared to treat Lee's tumor.
Together, Junod and Warren write, Schadt and his colleagues and a tumor board comprised mainly of clinicians, charted a course to treat Lee, who had been receiving the standard chemotherapy. As her treatment had been working, they decided that surgery to remove the now-shrunken tumors would be the best initial step, followed by the standard of care. But if things took a turn for the worse, they'd be able to turn to additional analyses being run by the Sinai team as a secondary approach.
In an update, Junod and Warren note that Lee came out of her surgery well.
“I hope that we look back on this five years from now and just smile at all that has been done since, how this was really the beginning of it all," Schadt writes to Junod and Warren in an email.
Paul Raeburn at the Knight Science Journalism Tracker adds that the part of the article focusing on Schadt's overturning of the current paradigm seems to be a bit of a stretch. "Nothing Schadt's research might suggest as a possible treatment could be tried until the conventional treatment had failed," Raeburn notes.