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PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

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NIAID Data Ecosystem2026-05-01 收录
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We report a case of Klippel Trenaunay Syndrome that was monitored bothclinically and molecularly over a period of 9 years. In order to identify the germline susceptibility of the patient we performed Whole Exome Sequencing (WES). In order to observe clonal mutations we performed cfDNA-NGS Liquid Biopsies. We also analyzed the available tissue deriving from the previous surgeries.

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2023-08-15
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