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Official Journal of the Human Genome Organisation

Table 2 Summary of exploratory studies that tested pharmacodynamic value of ctDNA

From: Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours

Tumour

Study

Patients

Treatment

Mutation

Summary of the findings

Colorectal

Diehl et al. (2008)

18 (16 stage IV, 1 stage III, 1 stage II)

Surgery and/or chemotherapy

APC, KRAS, p53

ctDNA reflects the tumour burden

ctDNA is more reliable and sensitive indicator of disease than CEA

Pancreatic

Olsen et al. (2009)

11 (locally advanced)

Chemo-radiotherapy and gefitinib

KRAS

Five patients had ctDNA in pretreatment plasma

Of those five patients, ctDNA became undetectable in 3 patients post-treatment and they had overall survival of 8, 11, and 21 months

Breast

Chen et al. (2009)

6 (non-metastatic)

Neo-adjuvant chemotherapy

p53

ctDNA were undetectable after treatment in four women consistent with clinical remission

Cutaneous melanoma

Shinozaki et al. (2007)

48 (stage IV)

Bio-chemotherapy

BRAF

Twenty-four patients responded to treatment

Ten responders had ctDNA in pretreatment serum and nine of those had undetectable ctDNA in serum within 4 weeks of the last cycle of treatment

BRAF mutation in serum is associated with significantly worse overall survival

  1. ctDNA circulating mutant DNA, CEA carcino-embryonic antigen