32(03) 238-241 
| 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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| Mi-Ae Jang, M.D.1, Seung-Tae Lee, M.D.1, Young Lyun Oh, M.D.2, Sun Wook Kim, M.D.3, Jae Hoon Chung, M.D.3, Chang-Seok Ki, M.D.1, and Jong-Won Kim, M.D.1 | | Departments of Laboratory Medicine & Genetics1, Pathology2, and Medicine3, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea | |
| 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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2012 May; 32(03) 238-241 |
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| DOI : http://dx.doi.org/10.3343/alm.2012.32.3.238 |
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| Keyword : Papillary thyroid carcinoma, BRAF, Deletion, Mutation, Mutant enrichment with 3’-modified oligonucleotides (MEMO) PCR, Korean |
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