Sequential Multi-Site Biopsies of Acral Melanoma Revealing TERT and KIT Evolution

Yuqiao Fu's case report details the branched clonal evolution of TERT and KIT mutations in a metastatic acral melanoma patient under therapeutic stress. The data includes genetic testing results from sequential biopsies performed between 2019 and 2024, using 168-gene and 10-gene panels. The study was published on figshare in 2026 under a CC-BY-4.0 license.

Use Cases

• Study spatial and temporal tumor heterogeneity based on sequential multi-site biopsy data.
• Analyze clonal evolution under therapeutic selection pressure based on variant allele frequency changes.
• Investigate resistance mechanisms to targeted therapies like imatinib based on specific KIT mutation data.
• Model subclonal architecture and allelic imbalance based on mutation co-occurrence patterns.

Strengths

• Provides detailed longitudinal genetic data from a single patient across multiple time points (2019, 2022, 2024).
• Includes results from multiple genetic testing methods (168-gene panel, 10-gene panel, retrospective single-gene testing).
• Documents specific mutations (TERT c.-124C>T, KIT p.Ala829Pro) and their variant allele frequencies.

Limitations

• Dataset is a single case report (n=1), limiting statistical power and generalizability.
• Row count and column-level documentation are absent; data structure must be inferred from the PDF narrative.
• The 734.5 KB file size suggests the dataset's scope is limited to the described case.

Provenance

Source

Yuqiao Fu via figshare

Collection Method

Genetic testing (gene panel sequencing) on sequential tumor biopsies from a single patient.

Time Range

Data collected from 2019 to 2024.

Freshness

Last updated 2026-05-20 05:45:54; freshness should be verified.