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On the Chopping Block: Overview of DICER1 Mutations in Endocrine and Neuroendocrine Neoplasms

Carl Christofer Juhlin1

  • 1Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.

Surgical Pathology Clinics
|February 4, 2023
PubMed

Insights

Mutations in the DICER1 gene disrupt micro-RNA maturation, contributing to various cancers. DICER1 inactivation is crucial in the development of endocrine tumors and DICER1 syndrome.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • DICER1 gene mutations lead to abnormal micro-RNA (miRNA) processing.
  • This aberrant miRNA maturation impacts posttranscriptional gene regulation and can drive tumor formation.
  • Germline and somatic DICER1 mutations are implicated in various cancers and DICER1 syndrome.

Purpose of the Study:

  • To review the critical role of DICER1 inactivation in the development of endocrine tumors.
  • To highlight the significance of DICER1 in tumorigenesis across multiple organ systems.

Main Methods:

  • Literature review focusing on DICER1 mutations and their role in cancer.
  • Analysis of studies investigating DICER1's function in gene expression and disease.

Main Results:

  • DICER1 inactivation is a key factor in the pathogenesis of various solid tumors.
  • Germline DICER1 mutations are associated with DICER1 syndrome, increasing risks for specific neoplastic conditions.
  • Somatic DICER1 mutations are frequently found in diverse tumor types.

Conclusions:

  • DICER1 plays a vital role in preventing tumor development.
  • Understanding DICER1's function is crucial for diagnosing and potentially treating DICER1-related cancers, particularly endocrine tumors.
Keywords:
DICER1Endocrine tumorMutationNeuroendocrine neoplasiaReview

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