CTNNB1 45F mutation is a molecular prognosticator of increased postoperative primary desmoid tumor recurrence. Issue 20 (31st July 2013)

• Record Type: Journal Article
• Authors: Colombo, Chiara; Miceli, Rosalba; Lazar, Alexander J.; Perrone, Federica; Pollock, Raphael E.; Le Cesne, Axel; Hartgrink, Henk H.; Cleton‐Jansen, Anne‐Marie; Domont, Julien; Bovée, Judith V. M. G.; Bonvalot, Sylvie; Lev, Dina; Gronchi, Alessandro
• Is Part Of: Cancer. Volume 119:Issue 20(2013)
• Page Start: 3696
• Page End: 3702
• Publication Date: 2013-07-31
• Subjects: Cancer -- Periodicals; Cancer -- Cytopathology -- Periodicals; 616.99405
• DOI: 10.1002/cncr.28271
• Languages: English
• ISSNs: 0008-543X

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="cncr28271-sec-0001" sec-type="section"> <title>BACKGROUND</title> <p>A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (cadherin‐associated protein) β‐1 (<italic>CTNNB1</italic>) 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 <italic>CTNNB1</italic> mutation type and local recurrence in this multi‐institutional, retrospective study.</p> </sec> <sec id="cncr28271-sec-0002" sec-type="section"> <title>METHODS</title> <p>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.</p> </sec> <sec id="cncr28271-sec-0003" sec-type="section"> <title>RESULTS</title> <p>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 (<italic>P</italic> < .001). At a median follow‐up of 50 months, 86% of patients remained alive without disease. The estimated 3‐year and 5‐year RFS rates were 0.49 and 0.45, respectively, for patients who had tumors with the S45F mutation; 0.91 and 0.91, respectively, for patients who had wild‐type tumors; and 0.70 and 0.66, respectively, for all others (<italic>P</italic> < .001). A similar trend was observed for patients who underwent surgery alone (<italic>P</italic> < .001). On multivariable analysis, mutation remained the only factor that was prognostic for local recurrence.</p> </sec> <sec id="cncr28271-sec-0004" sec-type="section"> <title>CONCLUSIONS</title> <p>This series confirmed that primary, completely resected, sporadic DTs with the S45F mutation have a greater tendency for local recurrence. With increasing implementation of "watchful‐waiting" for DT management, it will be important to determine whether mutation type predicts outcome for these patients. <bold><italic>Cancer</italic> 2013;119:3692–3702</bold>. © <italic>2013 American Cancer Society</italic>.</p> </sec> </abstract>