Monitoring multiple myeloma by quantification of recurrent mutations in serum.

摘要: Circulating tumor DNA (ctDNA) is a promising biomarker to monitor load and genome alterations. We have explored the presence of ctDNA in multiple myeloma patients its relation disease activity during long-term follow-up. used digital droplet PCR recurrent mutations, mainly mitogen activated protein kinase pathway genes NRAS, KRAS BRAF. Mutations were identified by next generation sequencing or bone marrow plasma cells, their analyzed 251 archived serum samples obtained from 20 up 7 years. In 17 18 patients, mutations active also found time-matched sample. The concentration mutated alleles correlated with fraction cells (r=0.507, n=34, p<0.002). There was striking covariation between circulating mutation levels M 10 out 11 sequential samples. When relapse evaluation could be directly compared, showed earlier two (3 9 months), later one patient (4 months) three there no difference. transformation aggressive disease, concentrations increased 400 times, an increase that not seen for protein. conclusion, multi-faceted reflecting total mass more disease. Its properties are both similar complementary