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

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.

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Key information

Conditions

Gardner Syndrome Abnormalities, Multiple Adenoma Adenomatous Polyposis Coli Adenomatous Polyps Colonic Diseases Colorectal Carcinoma Colorectal Neoplasms Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Desmoid Tumor Desmoid Tumors Digestive System Diseases Digestive System Neoplasms Fibroma Gastrointestinal Diseases Gastrointestinal Neoplasms Genetic Diseases, Inborn Intestinal Diseases Intestinal Neoplasms Intestinal Polyposis Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Connective Tissue Neoplasms, Connective and Soft Tissue Neoplasms, Fibrous Tissue Neoplasms, Glandular and Epithelial Neoplastic Syndromes, Hereditary Rectal Diseases

Sex eligibility

All sexes

Study type

Observational

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

mortality

Time frame: 1978-2010 (as long as patients live)

Secondary outcomes

incidence of colorectal carcinoma

Time frame: 1978-2010 (entire patient life)
Incidence of desmoid tumors

Time frame: 1978-2010 (entire patient life)

Sponsors and collaborators

Lead sponsor

Triemli Hospital

Other

Registry information

Official study 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

Important dates

Study start: 1978
Primary completion: 2010
Study completion: 2010
First posted: Jan 31, 2011
Registry last updated: Jan 31, 2011

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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