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Title:
Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors | Head and Neck Pathology
Description:
DICER1 syndrome is an autosomal dominant tumor predisposition syndrome caused by germline DICER1 mutations. In the thyroid, DICER1 syndrome is associated with early-onset multinodular goiter and thyroid carcinomas. Subsequent studies have shown that somatic DICER1 mutations, though rare, can occur in follicular-patterned thyroid tumors, such as follicular adenomas and follicular thyroid carcinomas, with a higher rate seen in pediatric follicular thyroid carcinomas and in follicular thyroid carcinomas with a macrofollicular architecture. Somatic DICER1 mutations have also been reported in pediatric papillary thyroid carcinomas lacking other alterations typically associated with thyroid tumorigenesis. Although thyroid carcinomas with underlying DICER1 mutations are usually indolent, recent studies have shown that pediatric poorly differentiated thyroid carcinoma and thyroblastoma, both aggressive tumors, also harbor DICER1 mutations. This review will discuss mechanisms of DICER1 tumorigenesis and describe thyroid tumors associated with germline and somatic DICER1 mutations.
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Keywords {🔍}
article, thyroid, pubmed, google, scholar, dicer, mutations, cas, carcinoma, cancer, follicular, central, pediatric, clin, carcinomas, foulkes, differentiated, dehner, blastoma, hill, pathol, head, neck, pathology, tumors, priest, pleuropulmonary, schultz, park, kim, barletta, syndrome, multinodular, goiter, endocrinol, metab, content, somatic, papillary, poorly, williams, messinger, privacy, cookies, march, access, field, lee, analysis, data,
Topics {✒️}
month download article/chapter genome-wide profiling identifies pediatric follicular-patterned tumors primary high-grade early-onset multinodular goiter adult-onset thyroid nodules reverse-strand expression bias follicular-patterned thyroid tumors family-based cohort study dicer1-related thyroid tumors somatic dicer1 mutation differentiated thyroid carcinoma pten-hamartoma tumor syndrome full article pdf poorly differentiated papillary thyroid carcinoma privacy choices/manage cookies follicular thyroid carcinomas follicular thyroid carcinoma thyroid follicular carcinoma nat rev cancer 5p strand cleavage germline dicer1 mutation anaplastic thyroid carcinoma multinodular goiter progression describe thyroid tumors papillary thyroid cancers somatic dicer1 mutations pediatr blood cancer familial multinodular goiter clin cancer res pathogenic germline variant article sauer multinodular goiter risk biallelic dicer1 mutations malignant thyroid teratoma code availability gene fusions endocrine organs follicular cell origin anaplastic thyroid cancers malignant teratoid tumor defective mirna processing jama netw open european economic area north american society recommended surveillance strategies metachronous anaplastic sarcoma juhlin cc ethics declarations conflict
Questions {❓}
- Focal High-Grade Areas with a Tumor-in-Tumor Pattern: Another Feature of Pediatric DICER1-Associated Thyroid Carcinoma?
- Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations-is the term “thyroblastoma” more appropriate?
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headline:Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors
description:DICER1 syndrome is an autosomal dominant tumor predisposition syndrome caused by germline DICER1 mutations. In the thyroid, DICER1 syndrome is associated with early-onset multinodular goiter and thyroid carcinomas. Subsequent studies have shown that somatic DICER1 mutations, though rare, can occur in follicular-patterned thyroid tumors, such as follicular adenomas and follicular thyroid carcinomas, with a higher rate seen in pediatric follicular thyroid carcinomas and in follicular thyroid carcinomas with a macrofollicular architecture. Somatic DICER1 mutations have also been reported in pediatric papillary thyroid carcinomas lacking other alterations typically associated with thyroid tumorigenesis. Although thyroid carcinomas with underlying DICER1 mutations are usually indolent, recent studies have shown that pediatric poorly differentiated thyroid carcinoma and thyroblastoma, both aggressive tumors, also harbor DICER1 mutations. This review will discuss mechanisms of DICER1 tumorigenesis and describe thyroid tumors associated with germline and somatic DICER1 mutations.
datePublished:2022-03-21T00:00:00Z
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Thyroblastoma
Pediatric poorly differentiated thyroid carcinoma
Multinodular goiter
Pathology
Otorhinolaryngology
Oral and Maxillofacial Surgery
Dentistry
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description:DICER1 syndrome is an autosomal dominant tumor predisposition syndrome caused by germline DICER1 mutations. In the thyroid, DICER1 syndrome is associated with early-onset multinodular goiter and thyroid carcinomas. Subsequent studies have shown that somatic DICER1 mutations, though rare, can occur in follicular-patterned thyroid tumors, such as follicular adenomas and follicular thyroid carcinomas, with a higher rate seen in pediatric follicular thyroid carcinomas and in follicular thyroid carcinomas with a macrofollicular architecture. Somatic DICER1 mutations have also been reported in pediatric papillary thyroid carcinomas lacking other alterations typically associated with thyroid tumorigenesis. Although thyroid carcinomas with underlying DICER1 mutations are usually indolent, recent studies have shown that pediatric poorly differentiated thyroid carcinoma and thyroblastoma, both aggressive tumors, also harbor DICER1 mutations. This review will discuss mechanisms of DICER1 tumorigenesis and describe thyroid tumors associated with germline and somatic DICER1 mutations.
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Thyroblastoma
Pediatric poorly differentiated thyroid carcinoma
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Oral and Maxillofacial Surgery
Dentistry
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