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The Desmoid Tumor Research Foundation

October 2020

Differentially Methylated Regions in Desmoid-Type Fibromatosis: A Comparison Between CTNNB1 S45F and T41A Tumors (FULL ARTICLE)

Author Information

Timbergen MJM(1,2), Boers R(3), Vriends ALM(2), Boers J(3), van IJcken WFJ(4), Lavrijsen M(5), Grunhagen DJ(1), Verhoef C(1), Sleijfer S(2), Smits R(5), Gribnau J(3), Wiemer EAC(2).

(1)Dept of Surgical Oncology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, Netherlands. (2)Dept of Medical Oncology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, Netherlands. (3)Dept of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, Rotterdam, Netherlands. (4)Center for Biomics, Erasmus MC, University Medical Center, Rotterdam, Netherlands. (5)Dept of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.

Publication

Front Oncol

Summary

The majority of desmoid-type fibromatosis (DTF) tumors harbor a beta-catenin mutation, affecting specific codons in CTNNB1 exon 3. S45F tumors are reported to have a higher chance of recurrence after surgery and more resistance to systemic treatments compared to wild-type (WT) and T41A tumors. The aim of this pilot study was to examine the genome-wide DNA methylation profiles of S45F and T41A mutated DTF, to explain the observed differences in clinical behavior between these DTF subtypes. This study demonstrated that S45F and T41A DTF tumors did not exhibit gross differences in DNA methylation patterns. This implies that distinct DNA methylation profiles are not the sole determinant for the divergent clinical behavior of these different DTF mutant subtypes.

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