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Expanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: a survey of 829 thyroid carcinomas using

Charles A Ghossein1, Snjezana Dogan1, Nada Farhat2

  • 1Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA.

Virchows Archiv : an International Journal of Pathology
|September 28, 2021
PubMed

Insights

Somatic DICER1 mutations are found in 1.7% of thyroid cancers, including aggressive types like anaplastic carcinoma. These DICER1 gene mutations may contribute to thyroid cancer development and progression.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The DICER1 gene is crucial for microRNA maturation.
  • Germline DICER1 mutations cause DICER syndrome, a cancer predisposition.
  • Somatic DICER1 mutations have been identified in various thyroid tumors.

Purpose of the Study:

  • To investigate the frequency and spectrum of somatic DICER1 mutations in thyroid follicular cell-derived carcinomas.
  • To expand the understanding of DICER1's role in different thyroid cancer subtypes.

Main Methods:

  • Targeted next-generation sequencing using the MSK-IMPACT platform.
  • Analysis of a cohort of 829 patients with thyroid follicular cell-derived thyroid carcinomas.

Main Results:

  • Somatic DICER1 mutations were identified in 14 cases (1.7%) of thyroid carcinomas.
  • These mutations were found in various subtypes, including Hurthle cell carcinoma, high-grade differentiated thyroid carcinoma, and anaplastic thyroid carcinoma.
  • The median age of diagnosis for patients with these mutations was 59 years.

Conclusions:

  • Somatic DICER1 mutations are a rare but significant finding in thyroid carcinomas.
  • DICER1 mutations can occur in aggressive thyroid cancer subtypes, suggesting oncogenic potential.
  • Further research is warranted to understand the clinical implications of these mutations.
Keywords:
DICER1Papillary thyroid carcinomaPoorly differentiated thyroid carcinomaThyroid carcinoma

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