In Modern Era, Recurrent Desmoids Determine Outcome in Patients With Gardner Syndrome: A Cohort Study of Three Generations of an Adenomatous Polyposis Coli (APC-) Mutation-Positive Family Across 30 Years
Since 1978, we have been following a family of 105 descendants with Gardner Syndrome (GS).
Mutation carriers were screened by endoscopy, and colorectal resection was performed upon
pending malignancy. Resectable desmoid tumors were excised, whereas large tumors of the
abdominal wall were treated by a combination of brachytherapy (BT) and radiotherapy (RT).
Outcome was analyzed with respect to length of tumor-free survival, and morbidity from
surgery or radiotherapy. Results: 37 of 105 family members have GS. Preventive colorectal
resections were performed in 16 patients (15%), with one death due to subsequent gastric
cancer. In 4 patients who denied screening endoscopy, invasive tumors of the colon (3
patients) and stomach (one patient each) developed. Of 33 desmoid tumors, 10 (30%) were
located in the mesentery, 17 (52%) in the abdominal wall, and 6 (18%) in extra-abdominal
sites. Excision of 12 desmoids was performed in 8 patients (36%), and 4 were treated by a
combination of BT and RT. Following BT/RT, all patients showed full or partial remission.
Observational Model: Cohort, Time Perspective: Retrospective
1978-2010 (as long as patients live)
Matthias Turina, MD PhD
Switzerland: Laws and standards