| Analysis of the mitochondrial D-loop sequence in a patient with thyroid Hürthle cell carcinoma and sacral bone metastasis |
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Youn Sun Bai, Seul Young Kim, Ju Hee Lee, Yun Hyeong Lee, Jin-Man Kim, Young Suk Jo, Heung-Kyu Ro |
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| 천추 전이를 동반한 갑상선 Hürthle 세포암에서 D-loop 유전자분석 1예 |
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배연선, 김설영, 이주희, 이윤형, 김진만, 조영석, 노흥규 |
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| Abstract |
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Hürthle cell carcinoma, an oncocytic variant of follicular thyroid carcinoma, has a higher malignancy potential than well differentiated thyroid carcinomas. It has a tendency to metastasize easily to the lungs and bones, although isolated sacral bone metastasis has been rarely reported. Hürthle cell carcinoma has been characterized by increased mitotic activity and abundant abnormal mitochondria, which have profound mitochondrial DNA (mtDNA) alterations. In general, a well-known hypothesis is that genomic alteration, especially microsatellite instability of the mtDNA D-loop, might result in whole mtDNA instability as seen in Hürthle cell carcinoma. Recently, we experienced a case of Hürthle cell carcinoma that presented with extensive sacral bone metastasis. To investigate the relationship between mtDNA genomic instability and metastatic potential in this case, we performed direct sequencing of the mtDNA D-loop in samples extracted from normal thyroid tissue, thyroid carcinoma tissue, and sacral bone metastasis tissue. Here, we describe the results of mtDNA D-loop sequencing and present a literature review. |
| Key Words:
DNA; Mitochondrial; Metastasis; Sacrum; Oxyphil cell; Thyroid neoplasm |
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