Detection of BRAF-V600E and V600K in melanoma circulating tumour cells by droplet digital PCR

Clinical Biochemistry

Volumn 48, Issue 15, 2015, Pages 999-1002

  Reid, Anna L ^a   Freeman, James B ^a   Millward, Michael ^b   Ziman, Melanie ^a,c   Gray, Elin S ^a  

^a EDITH COWAN UNIVERSITY   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

BRAF; CastPCR; Circulating tumour cells; Droplet digital PCR; Melanoma; WGA

Indexed keywords

B RAF KINASE; DNA; RNA; BRAF PROTEIN, HUMAN; MUTANT PROTEIN; TUMOR MARKER;

ALLELE; ARTICLE; CANCER DIAGNOSIS; CIRCULATING TUMOR CELL; CONTROLLED STUDY; DILUTION; DILUTION CURVE; DNA EXTRACTION; DROPLET DIGITAL POLYMERASE CHAIN REACTION; GENE AMPLIFICATION; GENE MUTATION; HUMAN; LIMIT OF DETECTION; MELANOMA CELL; METASTATIC MELANOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; AMINO ACID SUBSTITUTION; BINDING COMPETITION; BLOOD; CHEMISTRY; COMPARATIVE STUDY; EVALUATION STUDY; GENETICS; GENOME-WIDE ASSOCIATION STUDY; ISOLATION AND PURIFICATION; MELANOMA; METABOLISM; MUTATION RATE; NUCLEIC ACID HYBRIDIZATION; PATHOLOGY; PROCEDURES; REAL TIME POLYMERASE CHAIN REACTION; SECONDARY; SIGNAL PROCESSING; TEACHING HOSPITAL; TUMOR EMBOLISM; WESTERN AUSTRALIA;

ALLELES; AMINO ACID SUBSTITUTION; BINDING, COMPETITIVE; BIOMARKERS, TUMOR; DNA, NEOPLASM; GENOME-WIDE ASSOCIATION STUDY; HOSPITALS, TEACHING; HUMANS; LIMIT OF DETECTION; MELANOMA; MICROCHEMISTRY; MUTANT PROTEINS; MUTATION RATE; NEOPLASTIC CELLS, CIRCULATING; NUCLEIC ACID HYBRIDIZATION; PROTO-ONCOGENE PROTEINS B-RAF; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, NEOPLASM; SIGNAL PROCESSING, COMPUTER-ASSISTED; WESTERN AUSTRALIA;

EID: 84943584954     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2014.12.007     Document Type: Article

References (14)

1. Hauschild A., Grob J.J., Demidov L.V., Jouary T., Gutzmer R., Millward M., et al. Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. Lancet 2012, 380(9839):358-365.
2. McArthur G.A., Chapman P.B., Robert C., Larkin J., Haanen J.B., Dummer R., et al. Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. Lancet Oncol 2014, 15(3):323-332.
3. Wan P.T., Garnett M.J., Roe S.M., Lee S., Niculescu-Duvaz D., Good V.M., et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 2004, 116(6):855-867.
4. Rubinstein J.C., Sznol M., Pavlick A.C., Ariyan S., Cheng E., Bacchiocchi A., et al. Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. J Transl Med 2010, 8:67.
5. Lovly C.M., Dahlman K.B., Fohn L.E., Su Z., Dias-Santagata D., Hicks D.J., et al. Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. PLoS One 2012, 7(4):e35309.
6. Houben R., Becker J.C., Kappel A., Terheyden P., Brocker E.B., Goetz R., et al. Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis. J Carcinog 2004, 3(1):6.
7. Lin J., Goto Y., Murata H., Sakaizawa K., Uchiyama A., Saida T., et al. Polyclonality of BRAF mutations in primary melanoma and the selection of mutant alleles during progression. Br J Cancer 2011, 104(3):464-468.
8. Yancovitz M., Litterman A., Yoon J., Ng E., Shapiro R.L., Berman R.S., et al. Intra- and inter-tumor heterogeneity of BRAF(V600E) mutations in primary and metastatic melanoma. PLoS One 2012, 7(1):e29336.
9. Richtig E., Schrama D., Ugurel S., Fried I., Niederkorn A., Massone C., et al. BRAF mutation analysis of only one metastatic lesion can restrict the treatment of melanoma: a case report. Br J Dermatol 2013, 168(2):428-430.
10. Freeman J.B., Gray E.S., Millward M., Pearce R., Ziman M. Evaluation of a multi-marker immunomagnetic enrichment assay for the quantification of circulating melanoma cells. J Transl Med 2012, 10:192.
11. Hindson B.J., Ness K.D., Masquelier D.A., Belgrader P., Heredia N.J., Makarewicz A.J., et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem 2011, 83(22):8604-8610.
12. Schatton T., Murphy G.F., Frank N.Y., Yamaura K., Waaga-Gasser A.M., Gasser M., et al. Identification of cells initiating human melanomas. Nature 2008, 451(7176):345-349.
13. Kupas V., Weishaupt C., Siepmann D., Kaserer M.L., Eickelmann M., Metze D., et al. RANK is expressed in metastatic melanoma and highly upregulated on melanoma-initiating cells. J Invest Dermatol 2011, 131(4):944-955.
14. Klinac D., Gray E.S., Millward M., Ziman M. Advances in personalized targeted treatment of metastatic melanoma and non-invasive tumor monitoring. Front Oncol 2013, 3:54.