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Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis

  • Bone and Soft Tissue Sarcomas
  • Published:
Annals of Surgical Oncology Aims and scope Submit manuscript

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.

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The authors declare no conflict of interest.

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Correspondence to Danique L. M. van Broekhoven MD.

Additional information

A video of the presentation of the data in this article at the 67th Annual Society of Surgical Oncology Cancer Symposium is available at www.surgonc.org/vm.

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van Broekhoven, D.L.M., Verhoef, C., Grünhagen, D.J. et al. Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis. Ann Surg Oncol 22, 1464–1470 (2015). https://doi.org/10.1245/s10434-014-4156-x

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  • DOI: https://doi.org/10.1245/s10434-014-4156-x

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