scholarly journals Null Association between BRAF V600E Mutation and Tumor Recurrence in Patients with Papillary Thyroid Microcarcinoma in South Korea

2021 ◽  
Vol 14 (2) ◽  
pp. 135-142
Author(s):  
Ji Yoon Kim ◽  
Kyoung Jin Kim ◽  
Jae Hyun Bae ◽  
Joo Hyung Kim ◽  
Nam Hoon Kim ◽  
...  
Cancers ◽  
2020 ◽  
Vol 12 (5) ◽  
pp. 1345
Author(s):  
Young Shin Song ◽  
Byung-Hee Kang ◽  
Seungbok Lee ◽  
Seong-Keun Yoo ◽  
Young Sik Choi ◽  
...  

It is controversial as to whether papillary thyroid microcarcinoma (PTMC) has some genomic and transcriptomic characteristics that differentiate between an early-stage lesion that would eventually evolve into the larger papillary thyroid cancer (PTC), and an occult indolent cancer in itself. To investigate this, we comprehensively elucidated the genomic and transcriptomic landscapes of PTMCs of different sizes, using a large-scaled database. This study included 3435 PTCs, 1985 of which were PTMCs. We performed targeted next-generation sequencing for 221 PTCs and integrated these data with the data including The Cancer Genome Atlas (TCGA) project. The frequency of v-raf murine sarcoma viral oncogene homolog B (BRAF)V600E mutation was higher in PTMCs >0.5 cm than that in very small PTMCs (≤0.5 cm) and decreased again in PTCs >2 cm. Among PTMCs, the prevalence of mutations in rat sarcoma (RAS) and telomerase reverse transcriptase (TERT) promoter was not significantly different according to their size, but lower than in large PTCs. There was no change in the tumor mutational burden, the number of driver mutations, and transcriptomic profiles with tumor size, among PTMCs and all PTCs. Although a few genes with differential expression and TERT promoter mutations were found in a few PTMCs, our findings showed that there were no useful genomic or transcriptomic characteristics for the prediction of the future progression of PTMC.


2015 ◽  
Vol 173 (4) ◽  
pp. 525-540 ◽  
Author(s):  
André Uchimura Bastos ◽  
Gisele Oler ◽  
Bruno Heidi Nakano Nozima ◽  
Raquel Ajub Moysés ◽  
Janete Maria Cerutti

BackgroundThyroid cancer incidence has dramatically increased worldwide over the last two decades. The rise is mostly due to an increased detection of small papillary thyroid carcinomas (PTCs) (≤20 mm), predominantly microPTC (≤10 mm). Although small tumors generally have an excellent outcome, a considerable percentage may have a more aggressive disease and worse prognosis. The clinical challenge is to preoperatively identify those tumors that are more likely to recur.AimTo improve risk stratification and patient management, we sought to determine the prognostic value of BRAF V600E,NRASorRET/PTCmutations in patients with PTC measuring <20 mm, mainly microPTC.MethodsThe prevalence ofRET/PTCfusion genes was examined by quantitative RT-PCR. BRAF V600E and NRAS Q61 mutations were determined by PCR sequencing. To further elucidate why some small PTC are less responsive to radioactive iodine treatment therapy, we explored if these genetic alterations may modulate the expression of iodine metabolism genes (NIS,TPO,TG,TSHRandPDS) and correlated with clinico-pathological findings that are predictors of recurrence.ResultsThis study shows that tumors measuring ≤20 mm exhibited higher prevalence of BRAF V600E mutation, which correlated with aggressive histopathological parameters, higher risk of recurrence, and lower expression ofNISandTPO. Although this correlation was not found when microPTC were evaluated, we show that tumors measuring 7–10 mm, which were positive for BRAF mutation, presented more aggressive features and lower expression ofNISandTPO.ConclusionWe believe that our findings will help to decide the realistic usefulness of BRAF V600E mutation as a preoperative marker of poor prognosis in small PTC, primarily in microPTC.


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