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Published on: March 17, 2023
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.
Background:
Alterations in mitochondrial DNA have been identified in a number of solid tumor types, including gastric, head and neck, breast, colorectal, lung, and bladder carcinomas. Recently, a homopolymeric C stretch (D310) located within the noncoding D-loop of the mitochondrial genome was identified and described as a mutational hotspot. The objective of the present study was to examine a series of thyroid cancers for genetic alterations in this region.
Methods:
Seventy-two (72) thyroid cancers were examined for alterations in D310 using PCR-based methods. The primary tumors tested included 35 papillary carcinomas, 18 medullary carcinomas, 9 anaplastic carcinomas, 9 follicular carcinomas, and 1 insular carcinoma.
Results:
Alterations in D310 were observed in 2/35 papillary carcinomas (5.7%), 1/18 medullary carcinomas (5.6%), 1/9 anaplastic carcinomas (11.1%), and 1/9 follicular carcinomas (11.1%). Overall, the rate of alterations was 5/72 (6.9%).
Conclusions:
Mutations in the D310 region of the D-loop of mitochondrial DNA are found in thyroid tumors of varying histologic types and grades. This mutation rate is lower than the reported rate of alteration in tumors of epithelial origin, and shows no relationship to histologic grade.
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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