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Improved Quantification of Circulating Tumor DNA in Translocation‐Associated Myxoid Liposarcoma by Simultaneous Detection of Breakpoints and Single Nucleotide Variants

Myxoid liposarcomas (MLS) can exhibit a disseminated metastatic pattern, necessitating extensive diagnostics during follow‐up. With no tumor markers available, early diagnosis of recurrences and tumor monitoring is difficult. The detection… Click to show full abstract

Myxoid liposarcomas (MLS) can exhibit a disseminated metastatic pattern, necessitating extensive diagnostics during follow‐up. With no tumor markers available, early diagnosis of recurrences and tumor monitoring is difficult. The detection of circulating tumor DNA (ctDNA; liquid biopsy) in MLS with the characteristic translocations t(12;16) and t(12;22) can provide an additional diagnostic. However, due to the often very low tumor fraction, distinguishing actual tumor variants from sequencing artifacts remains a key challenge.

Keywords: detection; tumor dna; tumor; circulating tumor; improved quantification

Journal Title: Cancer Medicine
Year Published: 2025

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