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The Desmoid Tumor Research Foundation

June 2021

The Prognostic Role of Beta-Catenin Mutations in Desmoid-type Fibromatosis Undergoing Resection Only: A Meta-analysis of Individual Patient Data

Author Information

Timbergen MJM(1)(2), Colombo C(3), Renckens M(4), Kim HS(5), Rosmalen JV(6), Salas S(7), Mullen JT(8), Colombo P(9), Nishida Y(10), Wiemer EAC(2), Verhoef C(1), Sleijfer S(2), Gronchi A(3), Grnhagen DJ(1).

(1)Dept of Surgical Oncology, Erasmus Medical Ctr Cancer Inst, Rotterdam, NE. (2)Dept of Medical Oncology, Erasmus Medical Ctr Cancer Inst, Rotterdam, NE. (3)Sarcoma Service, Dept of Surg, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. (4)Dept of Rad & Nuclear Medicine, Erasmus Medical Ctr, Rotterdam, NE. (5)Dept of Pathology, College of Medicine, Chung-Ang Univ, Seoul, SK. (6)Dept of Biostatistics, Erasmus Medical Ctr, Rotterdam, NE. (7)Aix-Marseille Univ, INSERM U910, AP-HM, Hopital de la Timone, Dept of Medical Oncology & Palliative Care, Marseille, Fr. (8)Dept of Surg, Harvard Medical School & the Massachusetts General Hosp, Boston, MA. (9)Dept of Pathology, Humanitas Clinical & Research Ctr, Milan, Italy. (10)Dept of Rehabilitation & Orthopedic Surg, Nagoya Univ Graduate School of Medicine, Nagoya, JPN.

Publication

Ann Surg

Summary

This meta-analysis (PROSPERO CRD42018100653) uses individual patient data (IPD) to assess the association between recurrence and CTNNB1 mutation status in surgically treated adult desmoid-type fibromatosis (DTF) patients. A systematic literature search was performed on June 6th, 2018. Seven studies, describing retrospective cohorts were included and the IPD of 329 patients were used of whom 154 (46.8%) had a T41A mutation, 66 (20.1%) a S45F mutation, and 24 (7.3%) a S45P mutation, whereas 85 (25.8%) patients had a WT CTNNB1. Eighty-three patients (25.2%) experienced recurrence. Multivariable analysis, adjusting for sex, age, and tumor site yielded a P-value of 0.011 for CTNNB1 mutation. Additional adjustment for tumor size yielded a P-value of 0.082 with hazard ratio's of 0.83 [95% confidence interval (CI) 0.48-1.42), 0.37 (95% CI 0.12-1.14), and 0.44 (95% CI 0.21-0.92) for T41A, S45P and WT DTF tumors compared to S45F DTF tumors. The effect modification between tumor size and mutation type suggests that tumor size is an important mediator for recurrence. Primary sporadic DTFs harboring a CTNNB1 S45F mutation have a higher risk of recurrence after surgery compared to T41A, S45P, and WT DTF, but this association seems to be mediated by tumor size.

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