AI Article Synopsis
- - The study investigates genetic factors in 312 patients with tumors suspected to be sarcomas, utilizing advanced sequencing techniques to uncover germline variants linked to tumor risks.
- - Out of the patients, 8% exhibited potentially harmful genetic variants, with some variants found in both the germline and the tumors, indicating a possible genetic predisposition to sarcomas.
- - The findings suggest that incorporating second-hit genetic analyses could improve the identification of hereditary tumor syndromes, aiding in differentiating relevant genetic factors from unrelated genetic findings in soft tissue tumors.
Article Abstract
Background: The etiology of most mesenchymal tumors is unknown, and knowledge about syndromes with an increased risk of tumors in bone or soft tissue is sparse.
Methods: We present a prospective germline analysis of 312 patients with tumors suspected of being sarcomas at a tertiary sarcoma center. Germline and tumor whole genome sequencing, tumor transcriptome, and methylome analyses were performed.
Results: Germline pathogenic or likely pathogenic variants associated with an increased risk of tumors were detected in 24 patients (8%), of which 11 (4%) harbored a detectable second hit in the tumor. Second hits were confirmed in genes with (, , , , and ) and without (, , , , , and ) known association with mesenchymal tumor predisposition. Sarcomas from two Lynch syndrome patients showed mismatch repair deficiency, predicting a treatment response to immune checkpoint inhibitors (Level 1 biomarker according to the FDA (Federal Drug Administration) and ESMO (European Society for Medical Oncology)). None of the three carriers had a second hit in the tumor, suggesting a weak link to sarcoma.
Conclusions: We conclude that second-hit analyses can be used in standard of care to identify syndrome-related tumors. This approach can help distinguish true manifestations of tumor syndromes from unrelated germline findings and enhance the understanding of germline predisposition in soft tissue tumors. Prospective screening using germline whole genome sequencing should be considered when comprehensive somatic sequencing is introduced into clinical practice.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11592761 | PMC |
| http://dx.doi.org/10.3390/cancers16223816 | DOI Listing |
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