scholarly journals EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype

Author(s):  
Bozidar Kovacevic ◽  
Ana Caramelo ◽  
Vesna Skuletic ◽  
Snezana Cerovic ◽  
Catarina Eloy

The EWSR1 rearrangements with unknown genes were detected in a high percentage of classic variants of papillary thyroid carcinoma. The small-cell carcinoma of the thyroid with Ewing family tumor elements (CEFTE) typically presents with EWSR1-FLI1 rearrangement suggesting the possible role of EWSR-FLI1 translocation in the loss of thyroid differentiation and acquisition of a small-cell phenotype. In order to determine the frequency and association of EWSR1 rearrangements, particularly the EWSR1-FLI1 fusion with clinicopathological features of papillary thyroid microcarcinoma (m-PTC) and the presence of small cells, we analyzed a series of 99 m-PTCs using the fluorescence in situ hybridization method.  Ninety cases (90.9%) of m-PTC were positive for small cells. This group of m-PTC has shown more often invasive growth, lymphatics invasion, and moderate/extended intratumoral fibrosis. Three cases out of 99 were inconclusive for EWSR1 rearrangement. Eighty-nine (92.7%) and twenty-seven (28.1%) out of 96 m-PTC cases were positive for EWSR1 rearrangement and EWSR1-FLI1 fusion, respectively. m-PTC with classical architectural pattern presented more frequently with EWSR1 rearrangement relative to m-PTC with other patterns (p = 0.005). Other clinicopathological features were not related to the presence of EWSR1 rearrangement or EWSR1-FLI1 fusion. The percentage of small cells present significantly correlated with the percentage of cells positive for EWSR1-FLI1 fusion (p = 0.05) and EWSR1 rearrangement (p <0.001). EWSR1-FLI1 fusion is not rare in m-PTC and it is associated with the acquisition of small-cell phenotype. The EWSR1 gene rearrangement is a frequent event in m-PTC and is related to the classical pattern of m-PTC.

2019 ◽  
Vol 19 (3) ◽  
pp. 76
Author(s):  
Sung Min Lee ◽  
Cho Rok Lee ◽  
Sang-Wook Kang ◽  
Jandee Lee ◽  
Jong Ju Jeong ◽  
...  

2019 ◽  
Vol 40 (4) ◽  
pp. 560-563
Author(s):  
Lei Yan ◽  
Jayjay Blanco ◽  
Vijaya Reddy ◽  
Samer Al-Khudari ◽  
Bobby Tajudeen ◽  
...  

2015 ◽  
Vol 22 (2) ◽  
pp. 159-168 ◽  
Author(s):  
Fei Li ◽  
Guangqi Chen ◽  
Chunjun Sheng ◽  
Aaron M Gusdon ◽  
Yueye Huang ◽  
...  

The prognostic value of the BRAFV600E mutation, resulting in poor clinical outcomes of papillary thyroid carcinoma, has been generally confirmed. However, the association of BRAFV600E with aggressive clinical behaviors of papillary thyroid microcarcinoma (PTMC) has not been firmly established in individual studies. We performed this meta-analysis to examine the relationship between BRAFV600E mutation and the clinicopathological features of PTMC. We conducted a systematic search in PubMed, EMBASE, and the Cochrane library for relevant studies. We selected all the studies that reported clinicopathological features of PTMC patients with information available on BRAFV600E mutation status. Nineteen studies involving a total of 3437 patients met these selection criteria and were included in the analyses. The average prevalence of the BRAFV600E mutation was 47.48%, with no significant difference with respect to patient sex (male versus female) and age (younger than 45 years versus 45 years or older). Compared with the WT BRAF gene, the BRAFV600E mutation was associated with tumor multifocality (odds ratio (OR) 1.38; 95% CI, 1.04–1.82), extrathyroidal extension (OR 3.09; 95% CI, 2.24–4.26), lymph node metastases (OR 2.43; 95% CI, 1.28–4.60), and advanced stage (OR 2.39; 95% CI, 1.38–4.15) of PTMC. Thus, our findings from this large meta-analysis definitively demonstrate that BRAFV600E-mutation-positive PTMC are more likely to manifest with aggressive clinicopathological characteristics. In appropriate clinical settings, testing for the BRAFV600E mutation is likely to be useful in assisting the risk stratification and management of PTMC.


Author(s):  
Jae Won Kim ◽  
Dong Youl Lee ◽  
Young Up Cho ◽  
Chang Hyo Kim ◽  
Yoon Suk Oh ◽  
...  

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