CTNNB1 45F mutation is a molecular prognosticator of increased postoperative primary desmoid tumor recurrence: An independent, multicenter validation study

Chiara Colombo, Rosalba Miceli, Alexander J. Lazar, Federica Perrone, Raphael E. Pollock, Axel Le Cesne, Henk H. Hartgrink, Anne Marie Cleton-Jansen, Julien Domont, Judith V M G Bovée, Sylvie Bonvalot, Dina Lev, Alessandro Gronchi

Research output: Contribution to journalArticle

Abstract

BACKGROUND A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (cadherin-associated protein) β-1 (CTNNB1) gene as a molecular predictor of local recurrence in patients with primary, sporadic desmoid tumor (DT) has been reported. To confirm the previous data, the authors evaluated the correlation between CTNNB1 mutation type and local recurrence in this multi-institutional, retrospective study. METHODS Patients with primary, sporadic DT who underwent macroscopic complete surgical resection were included. Recurrence-free survival (RFS) analyses were conducted using the Kaplan-Meier method and log-rank tests to compare strata. RESULTS In total, 179 patients were identified, including 65% females and 35% males (median age, 39 years; median tumor size, 7 cm). Most DTs were located in the abdominal/chest wall (42%) followed by extra-abdominal sites (40%) and intra-abdominal sites (18%). All patients underwent either R0 resection (62%) or R1 resection (38%), and most underwent surgery alone (80%). The tyrosine to alanine substitution at codon 41 (T41A) was the most frequent mutation (45%), but the S45F mutation was more prevalent in extra-abdominal DTs compared with other sites (P

Original languageEnglish
Pages (from-to)3696-3702
Number of pages7
JournalCancer
Volume119
Issue number20
DOIs
Publication statusPublished - Oct 15 2013

Keywords

  • β-catenin
  • aggressive fibromatosis
  • CTNNB1
  • desmoid tumor
  • prognostic marker

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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    Colombo, C., Miceli, R., Lazar, A. J., Perrone, F., Pollock, R. E., Le Cesne, A., Hartgrink, H. H., Cleton-Jansen, A. M., Domont, J., Bovée, J. V. M. G., Bonvalot, S., Lev, D., & Gronchi, A. (2013). CTNNB1 45F mutation is a molecular prognosticator of increased postoperative primary desmoid tumor recurrence: An independent, multicenter validation study. Cancer, 119(20), 3696-3702. https://doi.org/10.1002/cncr.28271