Mitochondrial DNA alterations in thyroid cancer

Betty C Tong1, Patrick K Ha, Karan Dhir

  • 1Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

Abstract

Insights

Mitochondrial DNA alterations in the D310 region were found in various thyroid cancers. These mutations occurred at a lower rate than in other epithelial tumors, regardless of cancer grade.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Mitochondrial DNA alterations are common in various solid tumors.
  • The D310 region, a homopolymeric C stretch in the mitochondrial D-loop, is a known mutational hotspot.
  • Previous studies identified D310 alterations in several cancer types.

Purpose of the Study:

  • To investigate genetic alterations in the D310 region of mitochondrial DNA in thyroid cancer.
  • To determine the frequency and types of D310 mutations in different thyroid carcinoma subtypes.

Main Methods:

  • Examined 72 thyroid cancer samples for D310 alterations.
  • Utilized Polymerase Chain Reaction (PCR)-based techniques for mutation detection.
  • Analyzed papillary, medullary, anaplastic, and follicular carcinomas.

Main Results:

  • D310 alterations were detected in 6.9% of thyroid tumors overall (5 out of 72).
  • Specific alteration rates included 5.7% in papillary, 5.6% in medullary, and 11.1% in anaplastic and follicular carcinomas.
  • Mutations were observed across various thyroid cancer subtypes.

Conclusions:

  • Mutations in the D310 region of mitochondrial DNA are present in diverse thyroid tumors.
  • The observed mutation rate in thyroid cancer is lower compared to other epithelial cancers.
  • No correlation was found between D310 mutations and the histologic grade of thyroid tumors.

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