Genomic Profiles of 24 Colorectal Neuroendocrine Tumors Across Tumor Grades

Whole-exome sequencing data from 24 colorectal neuroendocrine tumors reveals grade-specific mutation patterns. HYDIN mutations were present in 100% of samples, with specific sites exclusive to high-grade G3 tumors. The study by Hongfa Xu, last updated in 2026, identifies seven primary mutation signatures and links to carcinogenic pathways like RTK-RAS, Notch, WNT, and Hippo.

Use Cases

• Identifying candidate biomarkers for tumor grade classification based on HYDIN mutation sites
• Analyzing grade-specific mutation signatures, such as the prevalence of signature 6 in G3 tumors
• Investigating copy number variations in genes like POP4, PPARG, MYC, F10, VOPP1, and UGT2B17 across tumor grades
• Exploring links between somatic mutations and carcinogenic pathways like RTK-RAS, Notch, WNT, and Hippo
• Assessing potential clinical drug responses associated with KMT2A gene mutations

Strengths

• Data covers 24 tumor samples across three distinct histological grades (G1, G2, G3)
• Analysis includes both single nucleotide variants and copy number variations
• Results highlight a gene (HYDIN) with 100% prevalence across all grades

Limitations

• Row count is unknown, which may limit suitability assessment
• Column-level documentation is absent; field semantics must be inferred after download
• The 387.7 KB file size suggests a very limited scope of data

Provenance

Source

figshare

Collection Method

Whole-exome sequencing of tumor samples

Freshness

Last updated 2026-05-11 22:04:42; freshness should be verified