Genetic Mutations Differ Within a Single Rectal Cancer Tumor

Different regions of a single tumor shared as much as 93% of genetic mutations and as little as 67%.

Genetic variation has been found in cancers, including lung cancer, kidney cancer, and some types of leukemia. When researchers from the University of Michigan Comprehensive Cancer Center looked at different areas within an individual rectal cancer sample, they observed cases in which each area contained different genetic mutations. The findings could have significant implications for treatment recommendations.

Researchers used next-generation sequencing techniques to sample the genetic landscape of different geographic areas from tissue samples taken from six patients with rectal cancer. They found that different regions of a single tumor shared as much as 93% of genetic mutations and as little as 67%.

Colorectal Cancer Screening with Colonoscopy
Colonoscopy is a widely used endoscopic procedure to screen individuals for colorectal cancer. It is very sensitive in detecting colorectal cancers.

‘Each area within an individual rectal cancer tumor contained different genetic mutations. These findings could have significant implications for treatment recommendations since chemotherapy choices often are determined from the genetic make-up of the tumor.’

Lead study author Dr. Karin Hardiman, assistant professor of surgery at the University of Michigan Medical School, said, "Our paper shows that individual parts of a tumor are different. Some tumors have a lot of variation and some don't. This is the first time anyone has shown this in rectal cancer."

Rectal cancer often returns in the area where it was removed, making treatments such as chemotherapy and radiation crucial in addition to surgery. Chemotherapy choices often are determined from the genetic make-up of the tumor.

Hardiman said, "When medical oncologists make decisions about targeted chemotherapy, they typically base that off the results of a single biopsy. If they're testing only one biopsy, it may or may not reflect what's in the rest of the tumor."

Colorectal Cancer Screening with Double-Contrast Barium Enema
Double-contrast barium enema is a radiological technique that can be used to screen individuals for colorectal cancer and is performed when colonoscopy is not possible.

The study authors hypothesize that the differences within a tumor might make the cancer more likely to resist targeted therapies. They are studying patient biopsy samples and mouse models to understand why there is variation within a tumor and why that variation is not present in all tumors.

Mouse models of rectal cancer will also allow the researchers to understand whether certain therapies or combinations of therapies can make a tumor more or less likely to respond.

Colorectal Cancer Screening with Flexible Sigmoidoscopy
Flexible sigmoidoscopy is an endoscopic procedure used to screen individuals for colorectal cancer suspected to be in sigmoid colon.

Results of the study appear in Laboratory Investigation.

Source-Eurekalert

Colo-rectal Cancer - Management
Treatment for Colorectal Cancers may involve surgery,chemotherapy, radiation therapy or biological therapy. Some people require a combination of treatments.