Table 2. Advantages and disadvantages of clinical diagnostics with FFPE and blood ctDNA detection.
Sample type | FFPE | Blood/ctDNA |
---|---|---|
Reliable variation types detected by NGS | SNV; indel; CNV; fusion | SNV; indel; fusion |
Sensitivity | Moderate, variation with 1% mutant allele frequency | High, variation with 0.1% mutant allele frequency |
Cost | Moderate | High |
Sample collection | Difficult | Easy |
Genes numbers | Multi-gene panel or with 400–500 genes | Multi-gene panel with less than 100 genes, or amplicon panels |
Cancer types and stages | All solid tumors and select hematologic malignancies. All stages | Advanced cancers (stage IIIB to IV) with select cancer types such as lung, breast or colon cancer |
FFPE, formalin fixed paraffin embedded; ctDNA, circulating tumor DNA; NGS, next generation sequencing; SNV, single nucleotide variation; indel, short insertion/deletion; CNV, copy number variation.