LRG works with medical institutions on Familial GIST study

By Erin Kristoff

GIST is generally not an inherited disease; yet there is a small subset where this is not the case. People with familial GIST inherit a mutated gene from one of their parents. It is a very rare type of GIST that affects very few families in the world (this is subject to change as we learn more about GIST). These people usually have KIT mutations in every cell in their body.

It has been mentioned that the Life Raft Group has a number of GIST registries that track patient information. We have a small number of reports within the registry of familial GIST and have been tracking one large family in particular for quite a while. This family has undergone medical treatment at various medical facilities across the country, with different investigators encountering parts of the family.

The Life Raft Group is trying to coordinate information across institutional boundaries, but the main issue is trying to figure out a way to match and unduplicate information between institutions. The problem is working around the Health Insurance Portability and Accountability Act (HIPAA) and confidentiality requirements of each institution.

These are a few main objectives:

• What to do with patients who carry the mutation but do not yet have the disease.

• Identify surrogate markers that can act as preliminary indicators that a person is at high risk for carrying the mutation.

• A long term goal of this study is to identify why some persons with the same mutation develop cancer and some do not.

The Life Raft Group is working with professionals at Dana Farber Cancer Institute, who recently received a grant to study familial GIST, and MD Anderson Cancer Center to try and answer these questions.