Histological and molecular features of solitary fibrous tumor of the extremities: clinical correlation

Solitary fibrous tumor is a rare mesenchymal neoplasm that exhibits a broad spectrum of biological behaviors. Few studies relative to clinical-pathologic features and predictive factors have been reported, all involving a mixed population of tumors occurring at different anatomic sites. In this study, we described a cohort of 41 patients with solitary fibrous tumor of the extremities and evaluated the prognostic role of clinical and histological features, presence of C228T and C250T mutations at the TERT promoter region, and NAB2-STAT6 fusion variants. Patients were stratified according to the latest risk stratification model proposed by Demicco. The two patients with metastasis at presentation were in the high-risk group; the one with metastasis after surgery was classified in the intermediate-risk group. TERT promoter mutations were detected in 9 out of 38 DNA available. All patients with metastasis were characterized by a TERT promoter mutation. TERT promoter mutation was associated with mitoses > 4 per high-power field (p = 0.001), necrosis (p = 0.049), and size > 10 cm (p = 0.031). NAB2-STAT6 fusion variants were detected in 27 out of 41 cases without any prognostic value. In conclusion, we confirmed that the patients with solitary fibrous tumor of the limbs have a better prognosis than other solitary fibrous tumors, with a very low percentage of metastatic events. Besides, our data support an association between TERT promoter mutations and histologically malignant features, suggesting a possible molecular role in stratifying patients into intermediate- to high-risk tumor.