RET fusion genes in pediatric and adult thyroid carcinomas: cohort characteristics and prognosis

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023761%3A_____%2F23%3AN0000004" target="_blank" >RIV/00023761:_____/23:N0000004 - isvavai.cz</a>

Alternative codes found

RIV/61383082:_____/23:00001294 RIV/00216208:11130/23:10469325 RIV/00216208:11110/23:10469325 RIV/00216208:11120/23:43926063 and 2 more

Result on the web

<a href="https://doi.org/10.1530/ERC-23-0117" target="_blank" >https://doi.org/10.1530/ERC-23-0117</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1530/ERC-23-0117" target="_blank" >10.1530/ERC-23-0117</a>

Result language

angličtina

Original language name

RET fusion genes in pediatric and adult thyroid carcinomas: cohort characteristics and prognosis

Original language description

Thyroid cancer is associated with a broad range of different mutations, including RET fusion genes. The importance of characterizing RET fusion-positive tumors has recently increased due to the possibility of targeted treatment. The aim of this study was to identify RET fusion-positive thyroid tumors, correlate them with clinicopathological features, compare them with other mutated carcinomas, and evaluate long-term follow-up of patients. The cohort consisted of 1564 different thyroid tissue samples (including 1164 thyroid carcinoma samples) from pediatric and adult patients. Samples were analyzed for known driver mutations occurring in thyroid cancer. Negative samples were subjected to extensive RET fusion gene analyses using next-generation sequencing and real-time PCR. RET fusion genes were not detected in any low-risk neoplasm or benign thyroid tissue and were detected only in papillary thyroid carcinomas (PTCs), in 113/993 (11.4%) patients, three times more frequently in pediatric and adolescent patients (29.8%) than in adult patients (8.7%). A total of 20 types of RET fusions were identified. RET fusion-positive carcinomas were associated with aggressive tumor behavior, including high rates of lymph node (75.2%) and distant metastases (18.6%), significantly higher than in NTRK fusion, BRAF V600E and RAS-positive carcinomas. Local and distant metastases were also frequently found in patients with microcarcinomas positive for the RET fusions. "True recurrences" occurred rarely (2.4%) and only in adult patients. The 2-, 5-, 10-year disease-specific survival rates were 99%, 96%, and 95%, respectively. RET fusion-positive carcinomas were associated with high invasiveness and metastatic activity, but probably due to intensive treatment with low patient mortality.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30202 - Endocrinology and metabolism (including diabetes, hormones)

Project

<a href="/en/project/NU21-01-00448" target="_blank" >NU21-01-00448: New diagnostic and prognostic markers in pre- and post-operative management of patients with thyroid cancer</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Endocrine-Related Cancer

ISSN

1351-0088

e-ISSN

1479-6821

Volume of the periodical

30

Issue of the periodical within the volume

12

Country of publishing house

GB - UNITED KINGDOM

Number of pages

14

Pages from-to

e230117

UT code for WoS article

001108005000002

EID of the result in the Scopus database

2-s2.0-85175218750