CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: A study of 260 desmoid tumors and 191 potential morphologic mimics

Biology-Pathology Medication Department, Institut Claudius Regaud, Toulouse, France.
Modern Pathology (Impact Factor: 6.19). 07/2012; 25(12). DOI: 10.1038/modpathol.2012.115
Source: PubMed


Desmoid tumors are benign monoclonal fibroblastic or myofibroblastic neoplasms, characterized by local invasiveness and high rates of recurrence. Desmoid tumors must be distinguished from benign fibroblastic and myofibroblastic lesions, as well as from low-grade sarcoma, which can appear histologically similar to desmoid tumors. This differential diagnosis can be very difficult, especially when diagnosis is based on a core needle biopsy. On the molecular level, most sporadic desmoid tumors are associated with mutations of the β-catenin gene (CTNNB1). A minority of desmoid tumors are associated with Gardner syndrome and mutations of the familial adenomatous polyposis gene. We identified the common CTNNB1 mutations associated with sporadic desmoid tumors by direct sequencing: in (i) 260 cases of typical desmoid tumors; and (ii) in 191 cases of spindle cell lesions, which can morphologically 'mimic' desmoid tumors. Formalin-fixed paraffin-embedded tissues were obtained via core needle biopsy (n=150) or open biopsy/surgical excision (n=301). Only 16 cases (4%) were not analyzable (Bouin's fixed tissue). CTNNB1 mutations were observed in 223 of 254 (88%) of sporadic desmoid tumors. No CTNNB1 mutations were detected in all other lesions (n=175) studied. CTNNB1 sequencing can be easily and reliably done using tissues obtained via core needle biopsy. Detection of CTNNB1 mutations in formalin-fixed paraffin-embedded tissues among spindle cell lesions is proposed as a specific diagnostic tool for the diagnosis of desmoid tumors. This result has significant implications for patient care and management.Modern Pathology advance online publication, 6 July 2012; doi:10.1038/modpathol.2012.115.

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Available from: Agnès Neuville, Jun 10, 2014
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    • "Mutations in CTNNB1 occur in most AF cases, with the vast majority being one of three point mutations: S45F, T41A, and S45 5,6,8–10. Studies have suggested that the site of the CTNNB1 mutation is associated with differences in clinical behavior of the tumor 6,10,14. "
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    • ". Furthermore, β-catenin (CTNNB1) mutations are reported very frequently [25] [26] [27] [28], although they are absent in DF [22]. These findings indicate that β-catenin plays a rather important role in the tumorigenesis of desmoid tumors. "
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