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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한병리학회 Journal of Pathology and Translational Medicine Journal of Pathology and Translational Medicine 제47권 제4호
- 발행연도
- 2013.1
- 수록면
- 348 - 354 (7page)
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Background: Recently, BRAF inhibitors showed dramatic treatment outcomes in BRAF V600 mutant melanoma. Therefore, the accuracy of BRAF mutation test is critical. Methods: BRAF mutations were tested by dual-priming oligonucleotide-polymerase chain reaction (DPO-PCR), direct sequencing and subsequently retested with a real-time PCR assay, cobas 4800 V600 mutation test. In total, 64 tumors including 34 malignant melanomas and 16 papillary thyroid carcinomas were analyzed. DNA was extracted from formalin-fixed paraffin embedded tissue samples and the results of cobas test were directly compared with those of DPO-PCR and direct sequencing. Results: BRAF mutations were found in 23 of 64 (35.9%) tumors. There was 9.4% discordance among 3 methods. Out of 6 discordant cases, 4 cases were melanomas; 3 cases were BRAF V600E detected only by cobas test, but were not detected by DPO-PCR and direct sequencing. One melanoma patient with BRAF mutation detected only by cobas test has been on vemurafenib treatment for 6 months and showed a dramatic response to vemurafenib. DPO-PCR failed to detect V600K mutation in one case identified by both direct sequencing and cobas test. Conclusions: In direct comparison of the currently available DPO-PCR, direct sequencing and realtime cobas test for BRAF mutation, real-time PCR assay is the most sensitive method.
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참고문헌 (22)
참고문헌 신청
Anderson S / 2012 / Multisite analytic performance studies of a real-time polymerase chain reaction assay for the detection of BRAF V600E mutations in formalin-fixed, paraff
Bloom KJ / 2011 / Molecular testing for BRAF V600 mutations in the BRIM-2 trial of the BRAF inhibitor vemurafenib in metastatic melanoma / J Clin Oncol 29 : 10523 ~
Chapman PB / 2011 / Improved survival with vemurafenib in melanoma with BRAF V600E mutation / N Engl J Med 364 : 2507 ~ 2516
Chung KW / 2006 / Detection of BRAFV600E mutation on fine needle aspiration specimens of thyroid nodule refines cyto-pathology diagnosis, especially in BRAF600E mutation-pre
Cohen C / 2002 / Mitogen-actived protein kinase activation is an early event in melanoma progression / Clin Cancer Res 8 : 3728 ~ 3733
Bloom KJ / 2011 / Molecular testing for BRAF V600 mutations in the BRIM-2 trial of the BRAF inhibitor vemurafenib in metastatic melanoma / J Clin Oncol 29 : 10523 ~
Chapman PB / 2011 / Improved survival with vemurafenib in melanoma with BRAF V600E mutation / N Engl J Med 364 : 2507 ~ 2516
Chung KW / 2006 / Detection of BRAFV600E mutation on fine needle aspiration specimens of thyroid nodule refines cyto-pathology diagnosis, especially in BRAF600E mutation-pre
Cohen C / 2002 / Mitogen-actived protein kinase activation is an early event in melanoma progression / Clin Cancer Res 8 : 3728 ~ 3733
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