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Abstract
Background
We aimed to conduct a systematic review of previously published material to evaluate the diagnostic effectiveness of PCR-based tests in detecting BRAF mutation.
Methods
Eight Korean databases, including KoreaMed, Ovid-MEDLINE, and Ovid-EMBASE were used to identify relevant published studies. Nine studies describing usage of real-time PCR, dual-priming oligonucleotide (DPO)-multiplex real-time PCR and allele-specific PCR were included in the final assessment. Two reviewers screened all references independently for assessing the quality of the included articles and extracted data.
Results
The rate of detection of the BRAF mutations was lower in the Korean population (11.1–17.2%) than that in the Western population (36.7–82.2%). The diagnostic accuracy of the BRAF mutation tests was assessed on the basis of four previous reports, all of which employed real-time PCR on malignant melanoma. In fact, the diagnostic accuracy of real-time PCR was found to be higher than that of sequencing tests (pooled sensitivity, 0.96; pooled specificity, 0.83; and summary receiver operating characteristic area under the curve, 0.99). In addition, we found that there was no publication bias in meta-analysis. The concordance rate of the BRAF mutation tests compared with reference tests was 87.9–98.1%.
References
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Fig. 1.
Documents selected for evaluation of PCR-based BRAF mutation test according to the literature search strategy.
Table 1.
Databases used for searching published studies
Table 2.
Ovid-MEDLINE search strategy
Table 3.
Ovid-EMBASE search strategy
Table 4.
Levels of evidence (From Scottish Intercollegiate Guidelines Network. SIGN 50: a guideline developer's handbook)
Table 5.
Grades of recommendations (From Scottish Intercollegiate Guidelines Network. SIGN 50: a guideline developer's handbook)
Table 6.
Documents selected for evaluation and detection rate of the BRAF mutation
| No. | Author/Publication Year | Research location | Subjects | Index test | Detection rate %(N) | BRAF mutation type (N) | Level of evidence |
|---|---|---|---|---|---|---|---|
| 1 | Lopez-Rios et al. (2013) [7] | U.S | 108 melanoma | Real-Time PCR | 39.8 (43/108) | V600E | 2+ |
| FFPET specimens∗ | |||||||
| 2 | Anderson et al. (2012) [8] | US, Australia | 477 metastatic | Real-Time PCR | 49.6 (215/433) | V600E | 2+ |
| melanoma patients | |||||||
| 3 | Halait et al. (2012) [9] | U.S | 438 malignant | Real-Time PCR | 43.1 (189/438) | V600E | 2+ |
| melanoma FFPET | |||||||
| specimens∗ | |||||||
| 4 | Schoenewolf et al. (2012) [10] | Swiss | 62 unresectable stage | Real-Time PCR | 34.6 (18/52)† | V600E | 2− |
| IV melanomas | |||||||
| 5 | Lee et al. (2012) [11] | South Korea | 58 primary | DPO-multiplex | 17.2 (10/58) | – | 2− |
| cutaneous melanomas | Real-Time PCR | ||||||
| 27 non-cutaneous | 11.1 (3/27) | ||||||
| melanomas | |||||||
| 6 | Hacker et al. (2010) [12] | Australia | 123 melanomas | AS-PCR | 32.5 (40/123) | V600 | 2− |
| 7 | Lazar et al. (2009) [13] | Hungary | 68 primary melanoma | Real-Time Quantitative PCR | 39.7 (27/68) | V600E (20/68) V600K (5/68) | 2+ |
| V600R (2/68) | |||||||
| 8 | Venesio et al. (2008) [5] | Italy | 18 cutaneous melanoma | AS-PCR | 82.2 (13/18) | V600E | 2+ |
| 9 | Liu et al. (2007) [14] | Australia | 251 invasive | AS-PCR | 44.6 (112/251) | V600E | 2− |
| primary melanomas | (T1799A) |
Table 7.
Diagnostic concordance rate
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