Genetic make-up of rare gastrointestinal tract tumour decoded

September 11, 2013
Genetic make-up of rare gastrointestinal tract tumour decoded

Gastrointestinal stromal tumours (GIST) are relatively rare tumours of the gastrointestinal tract that can occur both as a harmless incidental finding and as aggressive, malignant disease. Two key genetic mutations that can lead to these tumours developing are already known, however it was believed that other, hitherto unknown genes, also had a role to play. Researchers at the MedUni Vienna have now successfully decoded not only individual genes, but also the entire genetic make-up of these tumours.

The working group led by Sebastian Schoppmann (University Department of Surgery), Berthold Streubel (University Department of Gynaecology) and Peter Birner (Clinical Institute of Pathology) used the next generation sequencing technique – a technique used to identify in genetic material – to analyse the entire genetic material ("exome") that is translated into proteins.

"One particular challenge is that these sequencing operations often flag up thousands of in every tumour analysed without it being clear which of them are of significance," says Birner. "By combining 'exome sequencing' with several other genetic high throughput investigation methods, however, we have been able to arrive at ten new biologically significant genes that are frequently mutated in gastrointestinal stromal tumours, and for the majority of these there has previously been no relevant data available relating to malignant diseases." It was found, for example, that mutations in the MAP kinase pathway, which is one of many involved in cell growth and , are much more common than previously suspected.

For three of these genes, the researchers at the MedUni Vienna have even been able to demonstrate direct clinical significance that was previously unknown. Says Birner: "Our results enable us to create completely new insights into the biology of GIST, which could in turn lead to new ."

The study has now been published in Clinical Cancer Research and is already the second paper published by this group in this top journal in the space of twelve months.

Related Stories

Scouring the genome of adenoid cystic carcinoma

June 17, 2013

Adenoid cystic carcinoma (ACC) is a slow-growing and often fatal malignancy that can occur at multiple organ site, but is most frequently found in the salivary glands. The primary treatment is surgical removal; however, the ...

Whole genome or exome sequencing: An individual insight

June 27, 2013

Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds research in BioMed Central's open access journal Genome Medicine. The research compares several sequencing technologies ...

New approach in the treatment of breast cancer

August 8, 2013

Scientists at the MedUni Vienna, in collaboration with a working group led by Nancy Hynes at the University of Basel, have discovered a new approach in the treatment of breast cancer: an international team involving the Clinical ...

Estimating the risk of bowel cancer

August 19, 2013

Polyps in the mucosa of the colon are a common finding during screening colonoscopies. Some sub-groups of polyps are classed as precursors of bowel cancer. Until now, it has not been possible to precisely estimate the risk ...

Recommended for you

Strange circular DNA may offer new way to detect cancers

July 30, 2015

Strange rings of DNA that exist outside chromosomes are distinct to the cell types that mistakenly produced them, researchers have discovered. The finding raises the tantalizing possibility that the rings could be used as ...

New treatment options for a fatal leukemia

July 27, 2015

In industrialized countries like in Europe, acute lymphoblastic leukemia is the most common form of cancer in children. An international research consortium lead by pediatric oncologists from the Universities of Zurich and ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.