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Droplet digital PCR for detection and quantification of circulating tumor DNA in plasma of head and neck cancer patients.
- Source :
-
BMC cancer [BMC Cancer] 2017 Jun 19; Vol. 17 (1), pp. 428. Date of Electronic Publication: 2017 Jun 19. - Publication Year :
- 2017
-
Abstract
- Background: During posttreatment surveillance of head and neck cancer patients, imaging is insufficiently accurate for the early detection of relapsing disease. Free circulating tumor DNA (ctDNA) may serve as a novel biomarker for monitoring tumor burden during posttreatment surveillance of these patients. In this exploratory study, we investigated whether low level ctDNA in plasma of head and neck cancer patients can be detected using Droplet Digital PCR (ddPCR).<br />Methods: TP53 mutations were determined in surgically resected primary tumor samples from six patients with high stage (II-IV), moderate to poorly differentiated head and neck squamous cell carcinoma (HNSCC). Subsequently, mutation specific ddPCR assays were designed. Pretreatment plasma samples from these patients were examined on the presence of ctDNA by ddPCR using the mutation-specific assays. The ddPCR results were evaluated alongside clinicopathological data.<br />Results: In all cases, plasma samples were found positive for targeted TP53 mutations in varying degrees (absolute quantification of 2.2-422 mutational copies/ml plasma). Mutations were detected in wild-type TP53 background templates of 7667-156,667 copies/ml plasma, yielding fractional abundances of down to 0.01%.<br />Conclusions: Our results show that detection of tumor specific TP53 mutations in low level ctDNA from HNSCC patients using ddPCR is technically feasible and provide ground for future research on ctDNA quantification for the use of diagnostic biomarkers in the posttreatment surveillance of HNSCC patients.
- Subjects :
- Adult
Aged
Carcinoma, Squamous Cell diagnosis
Carcinoma, Squamous Cell genetics
Female
Gene Dosage
Head and Neck Neoplasms blood
Humans
Liquid Biopsy
Magnetic Resonance Imaging methods
Male
Middle Aged
Mutation
Neoplasm Grading
Neoplasm Staging
Polymerase Chain Reaction
Squamous Cell Carcinoma of Head and Neck
Tumor Burden
Tumor Suppressor Protein p53 genetics
Biomarkers, Tumor
Circulating Tumor DNA
DNA, Neoplasm
Head and Neck Neoplasms diagnosis
Head and Neck Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1471-2407
- Volume :
- 17
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- BMC cancer
- Publication Type :
- Academic Journal
- Accession number :
- 28629339
- Full Text :
- https://doi.org/10.1186/s12885-017-3424-0