EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype
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-F...
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Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina
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doaj-ec569e2d2b7d4a9bbdc462b6ed757e582021-08-10T15:55:59ZengAssociation of Basic Medical Sciences of Federation of Bosnia and HerzegovinaBosnian Journal of Basic Medical Sciences1512-86011840-48122021-08-0110.17305/bjbms.2021.6181EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotypeBozidar Kovacevic0Ana Caramelo1Vesna Skuletic2Snezana Cerovic3Catarina Eloy4Institute of Pathology and Forensic Medicine, Military Medical AcademyIpatimup Diagnostics, Institute of Molecular Pathology and Immunology of Porto University, Ipatimup, Porto, PortugalInstitute of Pathology and Forensic Medicine, Military Medical Academy, Belgrade, Serbia Institute of Pathology and Forensic Medicine, Military Medical Academy, Belgrade, Serbia Ipatimup Diagnostics, Institute of Molecular Pathology and Immunology of Porto University, Ipatimup, Porto, Portugal; Medical Faculty, University of Porto, Porto, Portugal 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. https://bjbms.org/ojs/index.php/bjbms/article/view/6181Papillary thyroid carcinomasmall cellsEWSR1EWSR-FLI1carcinoma of the thyroidEwing family tumor elements |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Bozidar Kovacevic Ana Caramelo Vesna Skuletic Snezana Cerovic Catarina Eloy |
spellingShingle |
Bozidar Kovacevic Ana Caramelo Vesna Skuletic Snezana Cerovic Catarina Eloy EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype Bosnian Journal of Basic Medical Sciences Papillary thyroid carcinoma small cells EWSR1 EWSR-FLI1 carcinoma of the thyroid Ewing family tumor elements |
author_facet |
Bozidar Kovacevic Ana Caramelo Vesna Skuletic Snezana Cerovic Catarina Eloy |
author_sort |
Bozidar Kovacevic |
title |
EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype |
title_short |
EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype |
title_full |
EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype |
title_fullStr |
EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype |
title_full_unstemmed |
EWSR1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype |
title_sort |
ewsr1 rearrangement in papillary thyroid microcarcinoma is related to classic morphology and the presence of small-cell phenotype |
publisher |
Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina |
series |
Bosnian Journal of Basic Medical Sciences |
issn |
1512-8601 1840-4812 |
publishDate |
2021-08-01 |
description |
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.
|
topic |
Papillary thyroid carcinoma small cells EWSR1 EWSR-FLI1 carcinoma of the thyroid Ewing family tumor elements |
url |
https://bjbms.org/ojs/index.php/bjbms/article/view/6181 |
work_keys_str_mv |
AT bozidarkovacevic ewsr1rearrangementinpapillarythyroidmicrocarcinomaisrelatedtoclassicmorphologyandthepresenceofsmallcellphenotype AT anacaramelo ewsr1rearrangementinpapillarythyroidmicrocarcinomaisrelatedtoclassicmorphologyandthepresenceofsmallcellphenotype AT vesnaskuletic ewsr1rearrangementinpapillarythyroidmicrocarcinomaisrelatedtoclassicmorphologyandthepresenceofsmallcellphenotype AT snezanacerovic ewsr1rearrangementinpapillarythyroidmicrocarcinomaisrelatedtoclassicmorphologyandthepresenceofsmallcellphenotype AT catarinaeloy ewsr1rearrangementinpapillarythyroidmicrocarcinomaisrelatedtoclassicmorphologyandthepresenceofsmallcellphenotype |
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