Clinical trial NCT01286662: A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome
Official title: 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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Gardner Syndrome
Colorectal Carcinoma
Desmoid Tumor
Keywords: gardner syndrome
colorectal carcinoma
desmoid tumor
resection
colon
Lead sponsor: Triemli Hospital
Sponsor class: OTHER
First posted: 2011-01-31
Enrollment: 105
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Since 1978, we have been following a family of 105 descendants with Gardner syndrom. APC (adenomatous polyposis coli) mutation carriers were screened by endoscopy, and colorectal resection was performed upon pending malignancy. Desmoid tumors were treated by excision or radiotherapy and brachytherapy.

Brief summary: 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.

Detailed 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.

Eligibility criteria: Inclusion Criteria:

* family with an identical adenomatous polyposis coli (APC-) germ line mutation

Exclusion Criteria:

* negative testing for adenomatous polyposis coli (APC-) germ line mutation

Primary outcomes:
measure: mortality
timeFrame: 1978-2010 (as long as patients live)
Secondary outcomes:
measure: incidence of colorectal carcinoma
timeFrame: 1978-2010 (entire patient life)
measure: Incidence of desmoid tumors
timeFrame: 1978-2010 (entire patient life)
Other outcomes:
Locations:
Study officials:
affiliation: Triemli Hospital
name: Matthias Turina, MD PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Zurich Hospital
name: Hans P Simmen, MD
role: STUDY_DIRECTOR
References:
citation: Turina M, Pavlik CM, Heinimann K, Behrensmeier F, Simmen HP. Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years. Int J Colorectal Dis. 2013 Jun;28(6):865-72. doi: 10.1007/s00384-012-1600-x. Epub 2012 Nov 1.