A case report and literature analysis of spermatic cord aggressive fibromatosis: A rare locally invasive tumor.

Deregulation of the mTOR pathway may play an important role in tumor biology when the APC/β-catenin pathway is disrupted in desmoid-type fibromatosis (DT). A pilot study was conducted to determine whether sirolimus can block the mTOR pathway (primary aim) as well as determine whether it can safely be given in the preoperative setting, decrease tumor size/recurrence, and decrease tumor-associated pain in children and young adults (secondary aims) with DT. Nine subjects ages 5-28 years were enrolled from 2014 to 2017 across four centers. Sirolimus was feasible and was associated with a nonstatistically significant decrease in pS706K activation.

The involvement of New York esophageal squamous cell carcinoma-1 (NY-ESO-1) and melanoma-associated antigen A4 (MAGE-A4) in soft-tissue sarcoma pathogenesis has recently been reported; however, their involvement in desmoid tumors (DTs) remains unknown. This study aimed to determine the involvement of NY-ESO-1 and MAGE-A4 in DTs. Immunostaining for β-catenin, NY-ESO-1, and MAGE-A4 was performed on DT biopsy specimens harvested at our institution. The positivity rate for each immune component was calculated. In addition, the correlations between the positivity rates for the immune molecules were investigated. The correlation between the positivity rate and age or longest diameter of each immune molecule was also investigated. β-catenin showed staining mainly in the tumor cell nuclei of DTs. Both NY-ESO-1 and MAGE-A4 showed staining in the nucleus, cytoplasm, and infiltrating lymphocytes of DT cells. The mean positive cell rates for β-catenin, NY-ESO-1, and MAGE-A4 were 43.9 ± 21.7, 30 ± 21.6, and 68.9 ± 20.8, respectively. A strong negative correlation was observed between β-catenin and MAGE-A4 positivity rates (r = -0.64). The positivity rates for NY-ESO-1 and MAGE-A4 showed a moderate positive correlation (r = -0.42). A very strong negative correlation was observed between age and the NY-ESO-1 positivity rate (r = -0.72). A weak negative correlation was observed between age and the MAGE-A4 positivity rate (r = -0.28). A medium negative correlation was observed between the longest tumor diameter and NY-ESO-1 positivity (r = -0.37). NY-ESO-1 and MAGE-A4 may be involved in the DT microenvironment. Thus, NY-ESO-1 and MAGE-A4 may be useful in the diagnosis of DT.

OBJECTIVE: Desmoid tumor is a rare benign but locally aggressive monoclonal and fibroblastic proliferation. It lacks metastatic potential but is associated with a high local recurrence after surgery. It is either characterized by the Beta-catenin gene (CTNNB1) or the adenomatous polyposis coli gene (APC) mutation. The most appropriate treatment approach is watchful waiting with periodic follow-ups for asymptomatic patients. However, symptomatic patients who are not good candidates for surgery due to high morbidity risk may benefit from medical therapy. The new drugs targeting programmed cell death protein 1 (PD-1) and programmed death-ligand 1 (PD-L1) display promising results in many cancer types. This study assessed the PD-L1 status of desmoid tumors in 18 patients. PATIENTS AND METHODS: Biopsy and resection materials of 18 patients diagnosed with desmoid tumors between April 2016 and April 2021 were retrieved and assessed for PD-L1 expression. The prepared slides were immunohistochemically stained with PD-L1 antibody using Leica Bond® automated immunohistochemistry stainer. RESULTS: No positive PD-L1 staining of the desmoid tumor cells was detected in any specimens. Intratumoral lymphocytes were present in all specimens. However, five of them were positively stained for PD-L1. CONCLUSIONS: Based on the results of our study, anti-PD-1/PD-L1 therapy may not be a valuable option in desmoid tumor treatment due to the lack of expression of PD-L1 by desmoid tumor cells. Nevertheless, the presence of positively stained intratumoral lymphocytes may warrant further studies.

Desmoid tumors are rare. They account for roughly 0.03% of all neoplasms and less than 3% of all soft tissue tumors. They are locally aggressive tumors with no known metastatic potential or dedifferentiation. A 29-year-old woman with no family history of neoplasms presented with a mass in the cervical region and moderate pain that had developed a year before. The patient underwent marginal resection of the bilateral posterior and lateral compartments of the neck. The histopathological report confirmed the diagnosis of desmoid tumor with nuclear positivity for beta-catenin. The patient received radiotherapy but did not show a favorable response; she has stable disease and takes colchicine at one-year follow-up.