title: Prognostic value of CTNNB1 gene mutation in primary sporadic aggressive fibromatosis.
abstract: BACKGROUND
  Aggressive fibromatosis (AF) comprises tumors with a varying biological behavior. Genetic tumor characteristics may be predictive of recurrence; hence, the prognostic value of three specific mutations on the CTNNB1 gene was evaluated in relation to known clinicopathologic risk factors in patients with primary, sporadic AF.
  
  
  METHODS
  In a multi-institutional retrospective cohort study of patients with primary extra-abdominal and abdominal wall AF who underwent surgical treatment, the original pathology specimens were reviewed for the presence of a T41A, S45F, and 45P mutations on the CTNNB1 gene. For these mutations, the risk of recurrence was analyzed by the Kaplan-Meier method with log-rank test. Univariable and multivariable Cox regression was performed to calculate hazard ratios.
  
  
  RESULTS
  A total of 101 patients were analyzed. During a median follow-up of 41 months, 17 recurrences were detected; the cumulative 5-year recurrence rate was 22.8 %. A specific CTNNB1 mutation was found in 76 patients, with the majority of patients having a T41A mutation (n = 49). CTNNB1 mutations were associated with the risk of recurrence: the presence of a S45F mutation was associated with a 5-year cumulative risk of recurrence of 63.8 % (P < 0.001). Multivariable analysis showed that young age and S45F mutation were independent risk factors (P = 0.011 and P < 0.001).
  
  
  CONCLUSIONS
  The presence of specific CTNNB1 mutations was predictive for recurrence in patients after surgical treatment for primary, sporadic extra-abdominal and abdominal AF. A S45F mutation increased the risk of recurrence significantly.
authors.affiliation: Department of Surgical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands, d.vanbroekhoven@erasmusmc.nl.
authors.forename: Danique L M
authors.initials: DL
authors.lastname: van Broekhoven
authors.forename: Cornelis
authors.initials: C
authors.lastname: Verhoef
authors.forename: Dirk J
authors.initials: DJ
authors.lastname: Grünhagen
authors.forename: Joost M H H
authors.initials: JM
authors.lastname: van Gorp
authors.forename: Michael A
authors.initials: MA
authors.lastname: den Bakker
authors.forename: John W J
authors.initials: JW
authors.lastname: Hinrichs
authors.forename: Carmen M A
authors.initials: CM
authors.lastname: de Voijs
authors.forename: Thijs
authors.initials: T
authors.lastname: van Dalen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D018222:Desmoid Tumors / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D009367:Neoplasm Staging; D011379:Prognosis; D015996:Survival Rate; D055815:Young Adult; D051176:beta Catenin / Q000235:genetics*
chemical_list: C495270:CTNNB1 protein, human; D051176:beta Catenin