Identification of a Rare 3 bp BRAF Gene Deletion in a Thyroid Nodule by Mutant Enrichment with 3'-Modified Oligonucleotides Polymerase Chain Reaction.
10.3343/alm.2012.32.3.238
- Author:
Mi Ae JANG
1
;
Seung Tae LEE
;
Young Lyun OH
;
Sun Wook KIM
;
Jae Hoon CHUNG
;
Chang Seok KI
;
Jong Won KIM
Author Information
1. Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu, kimjw@skku.edu
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
Papillary thyroid carcinoma;
BRAF;
Deletion;
Mutation;
Mutant enrichment with 3'-modified oligonucleotides (MEMO) PCR;
Korean
- MeSH:
Alleles;
Base Sequence;
Female;
Humans;
Lymphatic Metastasis;
Middle Aged;
Oligonucleotides/genetics;
Polymerase Chain Reaction/*methods;
Proto-Oncogene Proteins B-raf/*genetics/metabolism;
Sequence Deletion;
Thyroid Neoplasms/genetics/pathology;
Thyroid Nodule/metabolism
- From:Annals of Laboratory Medicine
2012;32(3):238-241
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
