title: Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years.
abstract: OBJECTIVE
  Screening of Gardner syndrome (GS) patients is tailored towards prevention of colorectal cancer (CRC). However, many patients suffer from desmoid tumors, which are challenging to treat due to invasive growth and local recurrence. The aims of our study were to determine the effectiveness of screening in GS and analyze outcome of desmoid tumors by treatment modality.
  
  
  METHODS
  This was a cohort study of a family of 105 descendants with GS. All family members who agreed were screened by endoscopy, and colorectal resection was performed upon pending malignancy. Resectable desmoids were excised, whereas large tumors were treated by a combination of brachytherapy (BT) and radiotherapy (RT). Main outcome measures were the incidence of CRC and overall and disease-specific mortality (ClinicalTrial.gov ID NCT01286662).
  
  
  RESULTS
  Thirty-seven of 105 family members have GS. Preventive colorectal resections were performed in 16 patients (15 %), with one death due to gastric cancer. In four patients who denied screening endoscopy, invasive tumors of the colon (three patients) and stomach 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 eight patients. Four desmoids were treated by BT and RT and showed full or partial remission.
  
  
  CONCLUSIONS
  Provided adequate screening, good long-term control of colorectal tumors is achievable. However, desmoid tumors determine survival and quality of life in many patients. Our data suggest good local control using a combination of brachytherapy/radiotherapy in large desmoids unsuitable for surgical resection.
authors.affiliation: Department of Colorectal Surgery, Cleveland Clinic Foundation, 9500 Euclid Ave., Cleveland, OH 44195, USA. mturina73@hotmail.com
authors.forename: Matthias
authors.initials: M
authors.lastname: Turina
authors.forename: Caroline Marianne
authors.initials: CM
authors.lastname: Pavlik
authors.forename: Karl
authors.initials: K
authors.lastname: Heinimann
authors.forename: Frank
authors.initials: F
authors.lastname: Behrensmeier
authors.forename: Hans-Peter
authors.initials: HP
authors.lastname: Simmen
mesh_terms: D000236:Adenoma / Q000473:pathology / Q000601:surgery; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001918:Brachytherapy; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003111:Colonic Polyps / Q000473:pathology / Q000601:surgery; D015179:Colorectal Neoplasms / Q000473:pathology / Q000601:surgery; D005191:Family Characteristics; D005260:Female; D018222:Desmoid Tumors / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D005736:Gardner Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000601:surgery; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D012008:Recurrence; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein