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The Desmoid Tumor Research Foundation

August 2022

Biclonal Desmoid-Type Fibromatosis With Two Beta-Catenin Mutations: Evidence for the Recruitment of Normal Myofibroblasts

Author Information

Skubitz KM (1), Murugan P (2), Corless CL (3).

(1) Department of Medicine, University of Minnesota, Minneapolis, USA. (2) Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, USA. (3) Department of Pathology and Knight Cancer Institute, Oregon Health & Science University, Portland, USA.

Publication

Cureus

Summary

Sporadic aggressive fibromatosis, or desmoid-type fibromatosis, is characterized by oncogenic mutations in CTNNB1. The clonal cell is a myofibroblast-like cell, and it has been hypothesized that the recruitment of normal myofibroblasts could contribute significantly to the tumor. We describe a case in which a CTNNB1 p.T41A mutation was present at a mutant allele frequency of 30%, suggesting that a significant proportion of the tumor myofibroblasts may have been recruited from normal precursor pools. In addition, a small subclone with a p.S45F mutation (allele frequency of 2%) was identified in the tumor. This case provides additional evidence that myofibroblasts recruited by a tumor from a normal precursor pool contribute significantly to the tumor; such recruitment could impact response to treatment and long-term outcomes.

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