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- Title
Genetic Alterations and Their Clinical Implications in High-Recurrence Risk Papillary Thyroid Cancer.
- Authors
Min-Young Lee; Bo Mi Ku; Hae Su Kim; Ji Yun Lee; Sung Hee Lim; Jong-Mu Sun; Se-Hoon Lee; Keunchil Park; Young Lyun Oh; Mineui Hong; Han-Sin Jeong; Young-Ik Son; Chung-Hwan Baek; Myung-Ju Ahn
- Abstract
Papillary thyroid carcinomas (PTCs) frequently involve genetic alterations. The objective of this study was to investigate genetic alterations and further explore the relationships between these genetic alterations and clinicopathological characteristics in a high-recurrence risk (node positive, N1) PTC group. Materials and Methods Tumor tissue blocks were obtained from 240 surgically resected patients with histologically confirmed stage III/IV (pT3/4 or N1) PTCs. We screened gene fusions using NanoString's nCounter technology and mutational analysis was performed by direct DNA sequencing. Data describing the clinicopathological characteristics and clinical courses were retrospectively collected. Results Of the 240 PTC patients, 207 (86.3%) had at least one genetic alteration, including BRAF mutation in 190 patients (79.2%), PIK3CAmutation in 25 patients (10.4%), NTRK1/3 fusion in six patients (2.5%), and RET fusion in 24 patients (10.0%). Concomitant presence of more than two genetic alterations was seen in 36 patients (15%). PTCs harboring BRAF mutation were associated with RET wild-type expression (p=0.001). RET fusion genes have been found to occur with significantly higher frequency in N1b stage patients (p=0.003) or groups of patients aged 45 years or older (p=0.031); however, no significant correlation was found between other genetic alterations. There was no trend toward favorable recurrence- free survival or overall survival among patients lacking genetic alterations. Conclusion In the selected high-recurrence risk PTC group, most patients had more than one genetic alteration. However, these known alterations could not entirely account for clinicopathological features of high-recurrence risk PTC.
- Subjects
THYROID cancer; TUMORS; GENE fusion; NUCLEOTIDE sequencing; DNA analysis
- Publication
Cancer Research & Treatment, 2017, Vol 49, Issue 4, p906
- ISSN
1598-2998
- Publication type
Article
- DOI
10.4143/crt.2016.424