{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T18:09:23Z","timestamp":1793729363202,"version":"4.6.1"},"reference-count":31,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2024,9,16]],"date-time":"2024-09-16T00:00:00Z","timestamp":1726444800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,9,16]],"date-time":"2024-09-16T00:00:00Z","timestamp":1726444800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Recent studies have suggested that pathogenic variants of the\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      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\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      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.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      This retrospective cohort study consisted of 350 pediatric and young adult patients (aged 2\u201321 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\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      gene were identified using next-generation sequencing and multiplex ligation-dependent probe amplification methods. Peripheral blood was analyzed from patients with\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      -positive tumors. The results of genetic analysis were then correlated with clinicopathological data.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Variants in the\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      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\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      -positive samples. Germline\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      variants were identified in 11\/24 (45.8%; [25.6;67.2]) patients. Two somatic (biallelic) variants in the\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      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.\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      -positive PTCs were significantly associated with the follicular subtype of PTC (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      = 0.001), encapsulation (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      = 0.006) and were larger in size (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      = 0.035), but with no extrathyroidal extension (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      = 0.039), and less frequent lymph node metastases (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      = 0.003) compared with\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      -negative PTCs. Patients with\n                      <jats:italic toggle=\"yes\">DICER1-<\/jats:italic>\n                      positive PTC had an excellent response to treatment in 75% of cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Variants of the\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      gene are frequently found in the thyroid nodules of pediatric and young adult patients. In our patients,\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      -positive PTCs showed low invasiveness. Our findings support considering more conservative management for\n                      <jats:italic toggle=\"yes\">DICER1<\/jats:italic>\n                      -positive low-risk PTCs.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/thy.2024.0188","type":"journal-article","created":{"date-parts":[[2024,9,16]],"date-time":"2024-09-16T13:32:14Z","timestamp":1726493534000},"page":"1225-1233","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":20,"title":["<i>DICER1<\/i>\n                    Variants in Pediatric and Young Adult Thyroid Nodules"],"prefix":"10.1177","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5837-7263","authenticated-orcid":false,"given":"Karolina","family":"Mastnikova","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech 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