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01-05-2015 | Bone and Soft Tissue Sarcomas

Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis

Authors: Danique L. M. van Broekhoven, MD, Cornelis Verhoef, MD, PhD, Dirk J. Grünhagen, MD, PhD, Joost M. H. H. van Gorp, MD, PhD, Michael A. den Bakker, MD, PhD, John W. J. Hinrichs, PhD, Carmen M. A. de Voijs, Thijs van Dalen, MD, PhD

Published in: Annals of Surgical Oncology | Issue 5/2015

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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Title: Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis
Authors: Danique L. M. van Broekhoven, MD
Cornelis Verhoef, MD, PhD
Dirk J. Grünhagen, MD, PhD
Joost M. H. H. van Gorp, MD, PhD
Michael A. den Bakker, MD, PhD
John W. J. Hinrichs, PhD
Carmen M. A. de Voijs
Thijs van Dalen, MD, PhD
Publication date: 01-05-2015
Publisher: Springer US
Published in: Annals of Surgical Oncology / Issue 5/2015
Print ISSN: 1068-9265
Electronic ISSN: 1534-4681
DOI: https://doi.org/10.1245/s10434-014-4156-x

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Springer Medicine

Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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