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KMID : 1100720120320030238
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Annals of Laboratory Medicine
2012 Volume.32 No. 3 p.238 ~ p.241
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Identification of a Rare 3 bp BRAF Gene Deletion in a Thyroid Nodule by Mutant Enrichment with 3’-Modified Oligonucleotides Polymerase Chain Reaction
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Jang Mi-Ae
Lee Seung-Tae
Oh Young-Lyun
Kim Sun-Wook
Chung Jae-Hoon
Ki Chang-Seok
Kim Jong-Won
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Abstract
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Papillary thyroid carcinoma (PTC) is the most common malignant thyroid tumor, and 36- 69% of PTC cases are caused by mutations in the BRAF gene. The substitution of a valine for a glutamic acid (V600E) comprises up to 95-100% of BRAF mutations; therefore, most diagnostic methods, including allele-specific PCR and real-time PCR, are designed to detect this mutation. Nevertheless, other mutations can also comprise the genetic background of PTC. Recently, a novel and sensitive technique called mutant enrichment with 3’-modified oligonucleotides (MEMO) PCR has been introduced. When we applied allelespecific PCR and MEMO-PCR for the detection of the BRAF V600E mutation, we found an unusual 3’ bp deletion mutation (c.1799_1801delTGA) only when using MEMO-PCR. This deletion results in the introduction of a glutamic acid into the B-Raf activation segment (p.V600_K601delinsE), leading to an elevated basal kinase activity of BRAF. This is the first report of a rare 3 bp BRAF deletion in a PTC patient that could not be detected by allele- specific PCR.
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KEYWORD
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Papillary thyroid carcinoma, BRAF, Deletion, Mutation, Mutant enrichment with 3’-modified oligonucleotides (MEMO) PCR, Korean
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