A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome

study id #: NCT01286662

condition: Gardner Syndrome, Colorectal Carcinoma, Desmoid Tumor

status: completed

The purpose of this study is to assess the long-term outcome in a cohort of Gardner-Syndrome patients receiving prophylaxis and treatment for intestinal and non-intestinal tumors.

start date: January 1978

estimated completion: December 2010

last updated: January 31, 2011

phase of development: Not Available

size / enrollment: 105

study design:
Observational Model: Cohort
Time Perspective: Retrospective

study description:
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.

primary outcomes:

• Mortality [ Time Frame:1978-2010 (as long as patients live) ] [ Designated as safety issue: No ]

secondary outcomes:

• Incidence of colorectal carcinoma [ Time Frame:1978-2010 (entire patient life) ] [ Designated as safety issue:No ]
  
• Incidence of desmoid tumors [ Time Frame:1978-2010 (entire patient life) ] [ Designated as safety issue: No ]

inclusion criteria:

exclusion criteria:
Negative testing for adenomatous polyposis coli (APC-) germ line mutation

sponsor: Triemli Hospital

investigators: Matthias Turina, MD PhD
Study Director: Hans P Simmen, MD