Patients with Li-Fraumeni syndrome inherit a mutated gene from a parent that increases their risk for multiple cancers at a young age. The syndrome is most frequently associated with soft-tissue sarcomas, bone sarcomas, leukemia, and early breast cancers, but other primary cancers are also involved.
Research reported in the January 2006 issue of Gastroenterology found 11 patients from 10 different families with colorectal cancer diagnosed under age 50 among family members enrolled in a Li-Fraumeni registry. Four of the 11 (36%) were diagnosed under age 21. Half of the group had metastatic cancer at the time of diagnosis.
All of the 64 families in the registry met the criteria for Li-Fraumeni syndrome (LFS), which usually includes a mutation of the p53 gene. Genetic analysis of the 11 colorectal cancer patients, or their families where patients had died, found all had a p53 genetic mutation.
Of the 64 classic LMS families in the registry, 15.4% had members with early onset colorectal cancer.
Although hereditary non-polyposis colon cancer (Lynch Syndrome) and familial adenomatous polyposis (FAP) are more common and more frequently suspected in cases of children, teenagers, and younger adults with colorectal cancer, young patients should also be evaluated for Li-Fraumeni, according to the study authors.
Identifying the syndrome, can alert both patients and family members of the risk for both colorectal cancer and other LFS-associated cancers. Early mammography and colonoscopy may reduce deaths from breast or colorectal cancer while being aware of symptoms may help identify brain tumors and sarcomas. A careful family history is critical to begin the identification process.
Li-Fraumeni should be considered when:
- Colorectal cancer is diagnosed under age 50, particularly when found those under age 21.
- There is a family history of early breast cancer.
- There is a family history of multiple primary cancers at a young age — including sarcomas, brain tumors, leukemia, and breast cancer, but not limited to them.
- There is parent affected with an LDS cancer.
The complete study, conducted by researchers at Brigham and Women’s Hospital and Dana-Farber Cancer Institute in Boston is available online.
August 12, 2007 at 11:41 am, TammyFitzgerald said:
thisisinteresting because my husband did not know his fathers side of the family but when diagnosed he was 46 and already severely metaas…into the liver….We are doing all we can to stop his CEA count from going down but it is at 900 and just will not stop…thanks for this info.
Tammy
August 12, 2007 at 11:41 am, TammyFitzgerald said:
this isi nteresting because my husband did not know his fathers side of the family but when diagnosed he was 46 and already severely metastasized.into the liver….We are doing all we can to stop his CEA count from going down but it is at 900 and just will not stop…thanks for this info.
Tammy
November 04, 2007 at 9:10 pm, Diane Herman said:
My husband had colon cancer at the age of 21. He fought 13 years with 5 mets to the liver and then the last 4 years in his lung. During this time we had 3 children. He died in 2005. Now our 10 year old had osteogenic sarcoma in the leg and has now just been diagnosed with Leukemia. We just found out she has the Li Fraumeni syndrome gene. Do you know the survival rate statistics of those with Li Fraumeni?