Karolinska first in the world to introduce expanded testing for colorectal cancer
The hospital is now introducing a broad DNA panel for molecular reflex testing of colorectal cancer. The decision follows findings from the Nordic ALASCCA study, recently published in The New England Journal of Medicine. The trial was led by Anna Martling, Professor at Karolinska Institutet and Senior Consultant at Karolinska University Hospital, and demonstrated that low-dose ASA significantly reduces the risk of relapse after surgery in patients with certain genetic changes in the tumor.
“This is a major step forward for precision medicine in colorectal cancer. Thanks to this research, we can now offer patients a more targeted treatment and identify those who will benefit from additional therapy with ASA,” says Annika Sjövall, Associate Professor at Karolinska Institutet and Senior Consultant in colorectal cancer surgery at Karolinska University Hospital.
Each year, nearly two million people worldwide are diagnosed with colorectal cancer. Between 20 and 40 percent develop metastases, which makes the disease more difficult to treat and increases mortality.
The ALASCCA trial included more than 3,500 patients across 33 hospitals in Sweden, Norway, Denmark, and Finland. Researchers showed that adding ASA treatment for three years after surgery reduced the risk of recurrence by about 50 percent in patients whose tumors carried mutations in the PI3K signaling pathway.
“Here, ASA is tested in an entirely new context as a precision medicine therapy. It is a clear example of how genetic information can be used to individualize treatment while reducing both costs and patient suffering,” says Johan Lindberg, Bioinformatician at Karolinska University Hospital, Associate Professor at Karolinska Institutet, and senior author of the ALASCCA study.
Karolinska University Hospital’s Department of Clinical Pathology and Cancer Diagnostics already performs molecular reflex testing on all diagnostic biopsies where colorectal cancer is detected. The difference is that the narrow commercial panel previously in use will now be replaced by the broader panel applied in the ALASCCA trial – the so-called GMCK panel. Developed by Johan Lindberg’s group at Karolinska Institutet, this panel is already established in clinical routine for cancers such as ovarian and endometrial.
The new panel:
- Covers all relevant genes in the PI3K signaling pathway – patients with PI3K mutations are candidates for ASA treatment.
- Provides results on complex biomarkers such as microsatellite instability and tumor mutational burden.
- Detects hereditary cancer genes responsible for conditions such as Lynch syndrome.
- Identifies mutations affecting how patients metabolize certain chemotherapy drugs.
“The introduction highlights the value of close integration between research and healthcare. It enables us to rapidly translate research findings into tangible benefits for patients,” says Johan Lindberg.
Karolinska University Hospital is the first worldwide to adopt this type of reflex testing in clinical routine. The development will have nationwide impact, and other hospitals in Sweden are expected to follow. The hospital is also open to receiving samples from other healthcare providers that do not yet offer the new panel.
Text: Marcus Hagström