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Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors

  • Proceeding of the North American Society of Head and Neck Pathology Companion Meeting, March 20, 2022, Los Angeles, CA
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Abstract

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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  1. University of Missouri School of Medicine, Columbia, USA

    Madeline Sauer

  2. Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, 75 Francis Street, Boston, MA, 02115, USA

    Justine A. Barletta

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Sauer, M., Barletta, J.A. Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors. Head and Neck Pathol 16, 190–199 (2022). https://doi.org/10.1007/s12105-022-01417-w

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