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Biclonal Desmoid-Type Fibromatosis With Two Beta-Catenin Mutations: Evidence for the Recruitment of Normal Myofibroblasts
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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481206/ https://www.ncbi.nlm.nih.gov/pubmed/36134040 http://dx.doi.org/10.7759/cureus.28006 |
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author | Skubitz, Keith M Murugan, Paari Corless, Christopher L |
author_facet | Skubitz, Keith M Murugan, Paari Corless, Christopher L |
author_sort | Skubitz, Keith M |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9481206 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-94812062022-09-20 Biclonal Desmoid-Type Fibromatosis With Two Beta-Catenin Mutations: Evidence for the Recruitment of Normal Myofibroblasts Skubitz, Keith M Murugan, Paari Corless, Christopher L Cureus Pathology 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. Cureus 2022-08-14 /pmc/articles/PMC9481206/ /pubmed/36134040 http://dx.doi.org/10.7759/cureus.28006 Text en Copyright © 2022, Skubitz et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Pathology Skubitz, Keith M Murugan, Paari Corless, Christopher L Biclonal Desmoid-Type Fibromatosis With Two Beta-Catenin Mutations: Evidence for the Recruitment of Normal Myofibroblasts |
title | Biclonal Desmoid-Type Fibromatosis With Two Beta-Catenin Mutations: Evidence for the Recruitment of Normal Myofibroblasts |
title_full | Biclonal Desmoid-Type Fibromatosis With Two Beta-Catenin Mutations: Evidence for the Recruitment of Normal Myofibroblasts |
title_fullStr | Biclonal Desmoid-Type Fibromatosis With Two Beta-Catenin Mutations: Evidence for the Recruitment of Normal Myofibroblasts |
title_full_unstemmed | Biclonal Desmoid-Type Fibromatosis With Two Beta-Catenin Mutations: Evidence for the Recruitment of Normal Myofibroblasts |
title_short | Biclonal Desmoid-Type Fibromatosis With Two Beta-Catenin Mutations: Evidence for the Recruitment of Normal Myofibroblasts |
title_sort | biclonal desmoid-type fibromatosis with two beta-catenin mutations: evidence for the recruitment of normal myofibroblasts |
topic | Pathology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481206/ https://www.ncbi.nlm.nih.gov/pubmed/36134040 http://dx.doi.org/10.7759/cureus.28006 |
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