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Genetic Alterations and Their Clinical Implications in High-Recurrence Risk Papillary Thyroid Cancer.


ABSTRACT: PURPOSE: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%), PIK3CA mutation 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.

SUBMITTER: Lee MY 

PROVIDER: S-EPMC5654158 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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Genetic Alterations and Their Clinical Implications in High-Recurrence Risk Papillary Thyroid Cancer.

Lee Min-Young MY   Ku Bo Mi BM   Kim Hae Su HS   Lee Ji Yun JY   Lim Sung Hee SH   Sun Jong-Mu JM   Lee Se-Hoon SH   Park Keunchil K   Oh Young Lyun YL   Hong Mineui M   Jeong Han-Sin HS   Son Young-Ik YI   Baek Chung-Hwan CH   Ahn Myung-Ju MJ  

Cancer research and treatment 20161226 4


<h4>Purpose</h4>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.<h4>Materials and methods</h4>Tumor tissue blocks were obtained from 240 surgically resected patients with histologically confirmed stage III/IV (pT3/4 or N1) PTCs. We scree  ...[more]

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