Clinicopathological and genetic analysis of orbital solitary fibrous tumors

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PURPOSE: To investigate the clinicopathological and genetic characteristics of patients with orbital solitary fibrous tumor (SFT) for clinical reference. METHODS: This single-center retrospective case-series study assessed clinical manifestations, imaging features, treatment, and prognosis of patients with orbital SFT. Immunohistochemical staining and fusion gene detection were also performed. RESULTS: The mean age of monocular orbital SFT patients was 38.89 ± 19.69 years (10 males and 8 females). The most common complaint was unilateral proptosis (68%). Tumors were 2.47 ± 0.67 cm in diameter, primarily oval-like (72%), and located in the upper part of the orbit (82%). Immunohistochemical staining results are as follows: STAT6 + (100%), CD99 + (100%), GRIA2 + (100%), ALDH1 + (95%), CD34 + (86%), Bcl-2 + (62%), EMA + (57%), S-100 + (10%), SMA + (10%), CD31 + (0%), Desmin + (0%), P53 + ( 2-44%), Ki-67( 1-10%), VEGFR1 + (100%), VEGFR2 + (100%), VEGFR3 + (0%), PDGFRα + (90%), PDGFRβ + (100%). Among them, CD99 (95%), ALDH1 (90%), and CD34 (86%) were relatively high in moderate and strong positive expression. Bcl-2 staining score of the primary group was higher than that of the recurrent group, and the difference was statistically significant (P < 0.05). Bcl-2 staining score of the benign group was higher than that of the malignant group, and the difference was statistically significant (P < 0.05). Four NAB2-STAT6 fusion variants were detected in 21 paraffin samples, including 1 case each of NAB2ex4-STAT6ex2 and NAB2ex6-STAT6ex16 and 2 cases each of NAB2ex6-STAT6ex17 and NAB2ex7-STAT6ex4. CONCLUSION: Orbital SFT were found in younger cohorts and smaller in size than other SFT. STAT6, CD99, GRIA2, ALDH1, CD34, and Bcl-2 are sensitive indications for orbital SFT, while CD99, ALDH1 and CD34 are more sensitive. High Bcl-2 expression is more common in primary and benign orbital SFT. The orbital SFT gene fusion variants include NAB2ex4-STAT6ex2, NAB2ex6-STAT6ex16, NAB2ex6-STAT6ex17, and NAB2ex7-STAT6ex4. An in-depth clinicopathological study can help explain orbital SFT.

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