Recent Advances in Desmoid Tumor Therapy

Abstract

The desmoid tumor is a locally aggressive proliferative disease within the family of soft-tissue sarcomas. Despite its relatively good prognosis, the clinical management of desmoid tumors requires constant multidisciplinary evaluation due to its highly variable clinical behavior. Recently, active surveillance has being regarded as the appropriate strategy at diagnosis, as indolent persistence or spontaneous regressions are not uncommon. Here, we review the most recent advances in desmoid tumor therapy, including low-dose chemotherapy and treatment with tyrosine kinase inhibitors. We also explore the recent improvements in our knowledge of the molecular biology of this disease, which are leading to clinical trials with targeted agents.

Keywords: active surveillance; aggressive fibromatosis; chemotherapy; desmoid tumor; tyrosine kinase inhibitors.

Figure 1

Canonical Wnt pathway in its inactive, active and constitutively active states. In the constitutively active state, the yellow stars indicate activating mutations in the β-catenin gene (CTNNB1) and inactivating mutations in APC. Mechanism of action of tegatrabetan is shown.

Figure 2

Notch pathway in its inactive and active states. Mechanism of action of nirogacestat is shown.

Figure 3

Treatment algorithm for desmoid tumors. SURG—surgery; RT—radiotherapy; ILP—isolated limb perfusion. Adapted from [2].