| Abstrakt: |
Simple Summary: Although the majority of sarcoma cases are sporadic, some are linked to familial and genetic predisposition phenotypes. Data on germline genetic testing for sarcoma are scarce, despite its increasing utility in enabling the selection of therapeutic options, cancer screening, and familial testing and counseling. Genetic germline testing (GGT) is recommended for specific subtypes of sarcoma; nevertheless, currently there are no uniform guidelines to guide GGT in sarcoma patients. In this prospective study, we investigated newly diagnosed patients with sarcoma to better understand the landscape of pathogenic genetic variants (PGVs) in our region and explore the potential actionability of these alterations. Out of 87 enrolled patients, 18 (20.7%) had PGVs. Younger age, presence of a second primary tumor, and female gender were significantly associated with higher PGV rates. The majority of detected mutations were potentially actionable and almost all mutations had implications on cancer screening and family counselling. Data on germline mutations in soft tissue and bone sarcomas are scarce. We sought to identify the prevalence of germline mutations in adult sarcoma patients treated at a tertiary cancer center. Newly diagnosed patients were offered germline genetic testing via an 84-gene panel. The prevalence of pathogenic germline variants (PGVs) and their association with disease-, and patient- related factors are reported. A total of 87 patients were enrolled, the median age was 48 (19–78) years, and 47 (54%) were females. Gastrointestinal stromal tumors (n = 12, 13.8%), liposarcoma (n = 10, 11.5%), and Ewing sarcoma (n = 10, 11.5%) were the main subtypes. A total of 20 PGVs were detected in 18 (20.7%) patients. Variants of uncertain significance, in the absence of PGVs, were detected in 40 (45.9%) patients. Young age (p = 0.031), presence of a second primary cancer (p = 0.019), and female gender (p = 0.042) were correlated with the presence of PGVs. All identified PGVs have potential clinical actionability and cascade testing, and eight (44.44%) suggested eligibility for a targeted therapy. Almost one in five adult patients with soft tissue and bone sarcomas harbor pathogenic or likely pathogenic variants. Many of these variants are potentially actionable, and almost all have implications on cancer screening and family counselling. In this cohort from the Middle East, younger age, presence of a second primary tumor, and female gender were significantly associated with higher PGVs rates. Larger studies able to correlate treatment outcomes with genetic variants are highly needed. [ABSTRACT FROM AUTHOR] |
