Arms-qPCR Improves Detection Sensitivity of Earlier Diagnosis of Papillary Thyroid Cancers With Worse Prognosis Determined by Coexisting BRAF V600E and Tert Promoter Mutations. / Yu, Peng-Cheng; Tan, Li-Cheng; Zhu, Xiao-Li; Shi, Xiao; Chernikov, Roman; Semenov, Arseny; Zhang, Ling; Ma, Ben; Wang, Yu; Zhou, Xiao-Yan; Ji, Qing-Hai; Wei, Wen-Jun; Wang, Yu-Long.
In: Endocrine Practice, Vol. 27, No. 7, 07.2021, p. 698-705.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - Arms-qPCR Improves Detection Sensitivity of Earlier Diagnosis of Papillary Thyroid Cancers With Worse Prognosis Determined by Coexisting BRAF V600E and Tert Promoter Mutations
AU - Yu, Peng-Cheng
AU - Tan, Li-Cheng
AU - Zhu, Xiao-Li
AU - Shi, Xiao
AU - Chernikov, Roman
AU - Semenov, Arseny
AU - Zhang, Ling
AU - Ma, Ben
AU - Wang, Yu
AU - Zhou, Xiao-Yan
AU - Ji, Qing-Hai
AU - Wei, Wen-Jun
AU - Wang, Yu-Long
N1 - Publisher Copyright: © 2021 AACE
PY - 2021/7
Y1 - 2021/7
N2 - OBJECTIVE: The coexistence of BRAF V600E and the telomerase reverse transcriptase (TERT) promoter mutation C228T/C250T is extensively associated with thyroid cancer prognosis. Our study aimed to establish a sensitive method for mutation detection and explore the correlation in detail.METHODS: The BRAF and TERT promoter mutation status of 250 papillary thyroid cancers was determined using amplification-refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) and Sanger sequencing to compare the sensitivity of the 2 methods. Associations between the mutation status and clinicopathological features were then analyzed.RESULTS: ARMS-qPCR was more sensitive than Sanger sequencing (BRAF V600E: 75.2% [188 of 250] vs 52.4% [131 of 250], P < .001; TERT promoter C228T/C250T mutation: 12.0% [30 of 250] vs 3.6% [9 of 250], P = .001; comutation: 9.6% [24 of 250] vs 3.2% [8 of 250], P = .005). Both ARMS-qPCR and Sanger sequencing indicated that patients with coexisting BRAF V600E and TERT promoter mutations had an older diagnosis age, higher recurrence rate, and were associated with a more advanced TNM stage and higher metastasis, age, completeness of resection, invasion, and size score. Moreover, ARMS-qPCR helped identify an earlier group stage, which was younger and had smaller tumors and a lower recurrence rate, compared with the group with coexisting BRAF V600E and TERT promoter mutations identified by Sanger sequencing. The newly identified group had a lower metastasis, age, completeness of resection, invasion, and size score and TNM stage.CONCLUSION: Patients with coexisting BRAF V600E and TERT promoter mutations had a worse prognosis. ARMS-qPCR, the more sensitive method, can be used to identify patients who have a potentially worse prognosis earlier.
AB - OBJECTIVE: The coexistence of BRAF V600E and the telomerase reverse transcriptase (TERT) promoter mutation C228T/C250T is extensively associated with thyroid cancer prognosis. Our study aimed to establish a sensitive method for mutation detection and explore the correlation in detail.METHODS: The BRAF and TERT promoter mutation status of 250 papillary thyroid cancers was determined using amplification-refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) and Sanger sequencing to compare the sensitivity of the 2 methods. Associations between the mutation status and clinicopathological features were then analyzed.RESULTS: ARMS-qPCR was more sensitive than Sanger sequencing (BRAF V600E: 75.2% [188 of 250] vs 52.4% [131 of 250], P < .001; TERT promoter C228T/C250T mutation: 12.0% [30 of 250] vs 3.6% [9 of 250], P = .001; comutation: 9.6% [24 of 250] vs 3.2% [8 of 250], P = .005). Both ARMS-qPCR and Sanger sequencing indicated that patients with coexisting BRAF V600E and TERT promoter mutations had an older diagnosis age, higher recurrence rate, and were associated with a more advanced TNM stage and higher metastasis, age, completeness of resection, invasion, and size score. Moreover, ARMS-qPCR helped identify an earlier group stage, which was younger and had smaller tumors and a lower recurrence rate, compared with the group with coexisting BRAF V600E and TERT promoter mutations identified by Sanger sequencing. The newly identified group had a lower metastasis, age, completeness of resection, invasion, and size score and TNM stage.CONCLUSION: Patients with coexisting BRAF V600E and TERT promoter mutations had a worse prognosis. ARMS-qPCR, the more sensitive method, can be used to identify patients who have a potentially worse prognosis earlier.
KW - ARMS-qPCR
KW - BRAF
KW - TERT
KW - thyroid cancer
KW - Carcinoma, Papillary/diagnosis
KW - Prognosis
KW - Early Detection of Cancer
KW - Humans
KW - Neoplasm Recurrence, Local
KW - Proto-Oncogene Proteins B-raf/genetics
KW - Thyroid Cancer, Papillary/genetics
KW - Thyroid Neoplasms/diagnosis
KW - Mutation
KW - Telomerase/genetics
KW - SYSTEM
KW - DNA
KW - HALLMARKS
KW - CARCINOMA
UR - http://www.scopus.com/inward/record.url?scp=85109354803&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/865e0f9b-4389-30cc-9e17-a41e4b57be67/
U2 - 10.1016/j.eprac.2021.01.015
DO - 10.1016/j.eprac.2021.01.015
M3 - Article
C2 - 33515759
VL - 27
SP - 698
EP - 705
JO - Endocrine Practice
JF - Endocrine Practice
SN - 1530-891X
IS - 7
ER -
ID: 75571048