Prevalence of <i>TERT</i> Promoter Mutations in Orbital Solitary Fibrous Tumors

oleh: David Sinan Koca, Vladimir Kolpakov, Jana Ihlow, Maximilian von Laffert, Katharina Erb-Eigner, Hermann Herbst, Karen Kriese, Leonille Schweizer, Eckart Bertelmann

Format: Article
Diterbitkan: MDPI AG 2024-02-01

Deskripsi

The orbital manifestation of a solitary fibrous tumor (SFT) is exceptionally rare and poses specific challenges in diagnosis and treatment. Its rather exceptional behavior among all SFTs comprises a high tendency towards local recurrence, but it rarely culminates in metastatic disease. This raises the question of prognostic factors in orbital SFTs (oSFTs). Telomerase reverse transcriptase (<i>TERT</i>)-promoter mutations have previously been linked to an unfavorable prognosis in SFTs of other locations. We analyzed the prevalence of <i>TERT</i> promoter mutations of SFTs in the orbital compartment. We performed a retrospective, descriptive clinico-histopathological analysis of nine cases of oSFTs between the years of 2017 and 2021. A <i>TERT</i> promoter mutation was present in one case, which was classified with intermediate metastatic risk. Local recurrence or progress occurred in six cases after primary resection; no distant metastases were reported. Multimodal imaging repeatedly showed particular morphologic patterns, including tubular vascular structures and ADC reduction. The prevalence of the <i>TERT</i> promoter mutation in oSFT was 11%, which is similar to the prevalence of extra-meningeal SFTs of the head and neck and lower than that in other extra-meningeal compartments. In the present study, the <i>TERT</i> promoter mutation in oSFT manifested in a case with an unfavorable prognosis, comprising aggressive local tumor growth, local recurrence, and eye loss.