RET, NTRK, ALK, BRAF, and MET Fusions in a Large Cohort of Pediatric Papillary Thyroid Carcinomas
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F20%3A43920301" target="_blank" >RIV/00216208:11120/20:43920301 - isvavai.cz</a>
Alternative codes found
RIV/61383082:_____/20:00000959 RIV/00216208:11130/20:10412633 RIV/00023761:_____/20:N0000016 RIV/00064203:_____/20:10412633
Result on the web
<a href="https://doi.org/10.1089/thy.2019.0802" target="_blank" >https://doi.org/10.1089/thy.2019.0802</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1089/thy.2019.0802" target="_blank" >10.1089/thy.2019.0802</a>
Alternative languages
Result language
angličtina
Original language name
RET, NTRK, ALK, BRAF, and MET Fusions in a Large Cohort of Pediatric Papillary Thyroid Carcinomas
Original language description
Background:Pediatric papillary thyroid carcinoma (PTC) is a rare malignancy, but with increasing incidence. Pediatric PTCs have distinct clinical and pathological features and even the molecular profile differs from adult PTCs. Somatic point mutations in pediatric PTCs have been previously described and studied, but complex information about fusion genes is lacking. The aim of this study was to identify different fusion genes in a large cohort of pediatric PTCs and to correlate them with clinical and pathological data of patients. Methods:The cohort consisted of 93 pediatric PTC patients (6-20 years old). DNA and RNA were extracted from fresh frozen tissue samples, followed by DNA and RNA-targeted next-generation sequencing analyses. Fusion gene-positive samples were verified by real-time polymerase chain reaction. Results:A genetic alteration was found in 72/93 (77.4%) pediatric PTC cases. In 52/93 (55.9%) pediatric PTC patients, a fusion gene was detected. Twenty different types ofRET,NTRK3,ALK,NTRK1,BRAF, andMETfusions were found, of which five novel,TPR/RET,IKBKG/RET,BBIP1/RET,OPTN/BRAF, andEML4/MET, rearrangements were identified and aCUL1/BRAFrearrangement that has not been previously described in thyroid cancer. Fusion gene-positive PTCs were significantly associated with the mixture of classical and follicular variants of PTC, extrathyroidal extension, higher T classification, lymph node and distant metastases, chronic lymphocytic thyroiditis, and frequent occurrence of psammoma bodies compared with fusion gene-negative PTCs. Fusion-positive patients also received more doses of radioiodine therapy. The most common fusion genes were theRETfusions, followed byNTRK3fusions.RETfusions were associated with more frequent lymph node and distant metastases and psammoma bodies, andNTRK3fusions were associated with the follicular variant of PTC. Conclusions:Fusion genes were the most common genetic alterations in pediatric PTCs. Fusion gene-positive PTCs were associated with more aggressive disease than fusion gene-negative PTCs.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology
Result continuities
Project
<a href="/en/project/NV16-32665A" target="_blank" >NV16-32665A: Thyroid cancer in children and adolescents and its molecular genetic background</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Thyroid
ISSN
1050-7256
e-ISSN
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Volume of the periodical
30
Issue of the periodical within the volume
12
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
1771-1780
UT code for WoS article
000547647800001
EID of the result in the Scopus database
2-s2.0-85088828876