“It’s imperative that the tumour subtype is known at the time of surgery,” said Jeroen de Ridder, an associate professor in the Center for Molecular Medicine at UMC Utrecht, a Dutch hospital, who helped lead the study. “What we have now uniquely enabled is to allow this very fine-grained, robust, detailed diagnosis to be performed already during the surgery.”
Their deep learning system, called Sturgeon, was first tested on frozen tumour samples from previous brain cancer operations. It accurately diagnosed 45 of 50 cases within 40 minutes of starting genetic sequencing. In the other five cases, it refrained from offering a diagnosis because the information was unclear.
The system was then tested during 25 live brain surgeries, most of them on children, alongside the standard method of examining tumour samples under a microscope. The new approach delivered 18 correct diagnoses and failed to reach the needed confidence threshold in the other seven cases. It turned around its diagnoses in less than 90 minutes, the study reported — short enough for it to inform decisions during an operation.
Currently, in addition to examining brain tumour samples under a microscope, doctors can send them for more thorough genetic sequencing.
But not every hospital has access to that technology. And even for those that do, it can take several weeks to receive results, said Dr Alan Cohen, the director of the Johns Hopkins Division of Pediatric Neurosurgery and a cancer specialist.
“We have to start treatment without knowing what we’re treating,” Cohen said.
The new method uses a faster genetic sequencing technique and applies it only to a small slice of the cellular genome, allowing it to return results before a surgeon has started operating on the edges of a tumour.
De Ridder said that the model was powerful enough to deliver a diagnosis with sparse genetic data, akin to someone recognizing an image based on only 1 per cent of its pixels, and from an unknown portion of the image.
“It can figure out itself what it’s looking at and make a robust classification,” said de Ridder, who is also a principal investigator at Oncode Institute, a cancer research centre in the Netherlands.
But some tumours are still difficult to diagnose. The samples taken during surgery are about the size of a kernel of corn, and if they include some healthy brain tissue, the deep learning system may struggle to pick out enough tumour-specific markers.
In the study, doctors dealt with that by asking the pathologists examining samples under a microscope to flag the ones with the most tumour for sequencing, said Marc Pagès-Gallego, a bioinformatician at UMC Utrecht and a co-author of the study.
There can also be differences within a single patient’s tumour cells, meaning that the small segment being sequenced may not be representative of the entire tumour. Some less common tumours may not correspond to those that have previously been classified. And some tumour types are easier to classify than others.
Other medical centres have already started applying the new method to surgical samples, the study’s authors said, suggesting that it can work in other people’s hands.
But Dr Sebastian Brandner, a professor of neuropathology at University College London, said that sequencing and classifying tumour cells often still required significant expertise in bioinformatics as well as workers who are able to run, troubleshoot and repair the technology.
“Implementation itself is less straightforward than often suggested,” he said.
Brain tumours are also the most well-suited to being classified by the chemical modifications that the new method analyzes; not all cancers can be diagnosed that way.
The new method is part of a broad movement toward bringing molecular precision to diagnosing tumours, potentially allowing scientists to develop targeted treatments that are less damaging to the nervous system. But translating a deeper knowledge of tumours to new therapies has proved difficult.
“We’ve made some gains,” Cohen said, “but not as many in the treatment as in the understanding of the molecular profile of the tumours.”
This article originally appeared in The New York Times.
Written by: Benjamin Mueller
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