DICER1 Variants in Pediatric and Young Adult Thyroid Nodules

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023761%3A_____%2F24%3AN0000032" target="_blank" >RIV/00023761:_____/24:N0000032 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11120/24:43927556 RIV/00216208:11130/24:10485494 RIV/00064173:_____/24:43927556 RIV/00064203:_____/24:10485494

Result on the web

<a href="https://doi.org/10.1089/thy.2024.0188" target="_blank" >https://doi.org/10.1089/thy.2024.0188</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1089/thy.2024.0188" target="_blank" >10.1089/thy.2024.0188</a>

Result language

angličtina

Original language name

DICER1 Variants in Pediatric and Young Adult Thyroid Nodules

Original language description

Background Recent studies have suggested that pathogenic variants of the DICER1 gene could be a driver of alterations in some pediatric thyroid nodules, but data are still limited. The aim of this study was to detect variants in the DICER1 gene in a large cohort of pediatric thyroid nodules and then correlate them with clinicopathological data, with a focus on the disease prognosis in patients with thyroid carcinoma. Methods This retrospective cohort study consisted of 350 pediatric and young adult patients (aged 2-21 years) with thyroid nodules, from whom 275 fresh-frozen thyroid nodule samples and 92 fine-needle aspiration biopsy (FNAB) samples were collected. After an analysis of variants in major genetic alterations of thyroid tumors, variants in the DICER1 gene were identified using next-generation sequencing and multiplex ligation-dependent probe amplification methods. Peripheral blood was analyzed from patients with DICER1-positive tumors. The results of genetic analysis were then correlated with clinicopathological data. Results Variants in the DICER1 gene were detected in a total of 24/350 (6.9%; 95%CI [4.4;10.0]) pediatric and young adult patients, respectively in 10/119 (8.4%; [4.1;14.9]) patients with benign fresh-frozen tissue, in 8/141 (5.7%; [1.9;9.5]) with papillary thyroid carcinoma (PTC), and in 6/86 (7.0%; [4.1;14.6]) patients with FNAB. No other gene alteration was found in DICER1-positive samples. Germline DICER1 variants were identified in 11/24 (45.8%; [25.6;67.2]) patients. Two somatic (biallelic) variants in the DICER1 gene were found in 9/24 (37.5%; [18.8;59.4]) thyroid nodules. Somatic deletions of at least 3 Mbp long were revealed in 2/24 (8.3%; [1.0;27.0]) cases. DICER1-positive PTCs were significantly associated with the follicular subtype of PTC (p = 0.001), encapsulation (p = 0.006), and were larger in size (p = 0.035), but with no extrathyroidal extension (p = 0.039), and less frequent lymph node metastases (p = 0.003) compared to DICER1-negative PTCs. Patients with DICER1-positive PTC had an excellent response to treatment in 75% of cases. Conclusions Variants of the DICER1 gene are frequently found in the thyroid nodules of pediatric and young adult patients. In our patients, DICER1-positive PTCs showed low invasiveness. Our findings support considering more conservative management for DICER1-positive low-risk PTCs.

Czech name

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Czech description

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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)

Publication year

2024

Confidentiality

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

Name of the periodical

Thyroid

ISSN

1050-7256

e-ISSN

1557-9077

Volume of the periodical

34

Issue of the periodical within the volume

10

Country of publishing house

US - UNITED STATES

Number of pages

9

Pages from-to

1225-1233

UT code for WoS article

001321088600001

EID of the result in the Scopus database

2-s2.0-85205724818