[Thyroid carcinoma: genetics, diagnosis, clinical features, and surgical treatment]

Hiroshi Takami1, Yoshifumi Ikeda, Gengo Tajima

  • 1Department of Surgery, Teikyo University School of Medicine, Japan.

Insights

Genetic testing for RET mutations is crucial for identifying medullary thyroid carcinoma. Early screening and prophylactic thyroidectomy aid in managing this cancer by targeting key oncogenes.

Area of Science:

  • Genetics and Molecular Biology
  • Oncology
  • Endocrinology

Background:

  • Thyroid carcinoma development involves oncogenes and tumor-suppressor genes.
  • The RET oncogene is significantly implicated in medullary and papillary thyroid carcinoma (PTC).
  • Thyroid-stimulating hormone receptor (TSH-R) and Gs alpha are linked to toxic thyroid adenoma.

Purpose of the Study:

  • To review the role of specific genes, particularly RET, in thyroid carcinoma.
  • To highlight the clinical significance of genetic testing for RET mutations in thyroid cancer management.

Main Methods:

  • Review of scientific literature on gene involvement in thyroid carcinoma.
  • Analysis of the established roles of RET, TSH-R, Gs alpha, and ras oncogenes.
  • Focus on diagnostic and prognostic implications of genetic alterations.

Main Results:

  • RET oncogene is a key factor in medullary and papillary thyroid carcinoma.
  • Germline RET mutation testing is standard practice for medullary thyroid carcinoma.
  • RET rearrangements may serve as prognostic indicators in PTC.

Conclusions:

  • Germline screening for RET mutations is now a common practice for medullary thyroid carcinoma patients.
  • Understanding genetic underpinnings is vital for early detection and management of thyroid cancers.