دورية أكاديمية

Mutational Signature Changes in Patients With Metastatic Squamous Cell Carcinoma of the Anal Canal.

التفاصيل البيبلوغرافية
العنوان: Mutational Signature Changes in Patients With Metastatic Squamous Cell Carcinoma of the Anal Canal.
المؤلفون: LaPelusa, Michael, Cann, Christopher, Ciombor, Kristen K, Eng, Cathy
المصدر: Oncologist; Apr2024, Vol. 29 Issue 4, pe475-e486, 12p
مصطلحات موضوعية: SQUAMOUS cell carcinoma, ANUS, DNA, TREATMENT effectiveness, CANCER patients, METASTASIS, PRE-tests & post-tests, ANAL tumors, GENETIC mutation, SEQUENCE analysis, EVALUATION
مستخلص: Purpose We examined the concordance of genetic mutations between pretreatment tumor tissue and posttreatment circulating tumor DNA (ctDNA) in patients with metastatic squamous cell carcinoma of the anal canal (SCCA) and assessed the impact of therapy on this concordance. Methods We analyzed next-generation sequencing reports from pretreatment tumor tissue and posttreatment ctDNA in 11 patients with metastatic SCCA treated at Vanderbilt University Medical Center between 2017 and 2021. Results Among the mutations identified in posttreatment ctDNA, 34.5% were also found in pretreatment tumor tissue, while 47.6% of pretreatment tumor tissue mutations were found in posttreatment ctDNA. Four patients had preservation of potentially actionable mutations in both pretreatment tissue and posttreatment ctDNA, while 7 patients had newly identified mutations in posttreatment ctDNA that were not present in pretreatment tumor tissue. Conclusion Patients with SCCA demonstrate a high degree of temporal mutational heterogeneity. This supports the hypothesis that ctDNA can serve as a real-time tracking mechanism for solid tumors' molecular evolution in response to therapy. Our findings highlight the potential of ctDNA in identifying emerging actionable mutations, supplementing information from tissue-based genomic assessments. Further research, ideally with larger and multi-institutional cohorts, is needed to validate our findings in this relatively rare tumor type. [ABSTRACT FROM AUTHOR]
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قاعدة البيانات: Complementary Index
الوصف
تدمد:10837159
DOI:10.1093/oncolo/oyad326