Evolving strategies for management of desmoid tumor

Abstract

Desmoid tumors (DTs) are rare soft tissue mesenchymal neoplasms that may be associated with impairments, disfigurement, morbidity, and (rarely) mortality. DT disease course can be unpredictable. Most DTs are sporadic, harboring somatic mutations in the gene that encodes for βcatenin, whereas DTs occurring in patients with familial adenomatous polyposis have germline mutations in the APC gene, which encodes for a protein regulator of βcatenin. Pathology review by an expert soft tissue pathologist is critical in making a diagnosis. Magnetic resonance imaging is preferred for most anatomic locations. Surgery, once the standard of care for initial treatment of DT, is associated with a significant risk of recurrence as well as avoidable morbidity because spontaneous regressions are known to occur without treatment. Consequently, active surveillance in conjunction with pain management is now recommended for most patients. Systemic medical treatment of DT has evolved beyond the use of hormone therapy, which is no longer routinely recommended. Current options for medical management include tyrosine kinase inhibitors as well as more conventional cytotoxic chemotherapy (e.g., anthracyclinebased or methotrexate-based regimens). A newer class of agents, γsecretase inhibitors, appears promising, including in patients who fail other therapies, but confirmation in Phase 3 trials is needed. In summary, DTs present challenges to physicians in diagnosis and prognosis, as well as in determining treatment initiation, type, duration, and sequence. Accordingly, evaluation by a multidisciplinary team with expertise in DT and patient-tailored management are essential. As management strategies continue to evolve, further studies will help clarify these issues and optimize outcomes for patients.

Mesenchymal fibroblast cell promotes invasiveness of aggressive fibromatosis by remodeling extracellular matrix through CREB3L1/COL1A1 axis

“…According to previous literature reports, incidence of AF is low and has been relegated to the category of rare diseases. Current studies on AF mainly focus on clinical trials of various related drugs, case reports, and studies on the pathological mechanism of APC and β-catenin mutations based on genetic background combined with transcriptome analysis became a hot topic [15,[32][33][34][35][36][37][38][39][40].…”

Diffuse gastric polyposis in a young patient with a giant retroperitoneal mass: A case report

“…Abdominal desmoid tumors are not rare in patients with FAP, and they are locally aggressive. Although they have a relatively high recurrence rate, tumor surgical resection is still suggested for a symptomatic desmoid tumor when it affects organ function or grows rapidly (28). Patients with AFAP generally present with a lower overall polyp burden typically averaging <100 adenomatous polyps in their lifetime.…”

Targeted therapies for the treatment of soft tissue sarcoma

“…The Notch signaling pathway and dysregulation of cross-talk between the Notch and Wnt/β-catenin pathway have been implicated in multiple tumor types including DT ( 81 ). γ-secretase inhibitors (GSIs) block Notch receptor proteolysis and subsequent translocation of the Notch intracellular domain to the nucleus, preventing cell cycle progression ( 82 ).…”