Analysis of the mitochondrial D-loop sequence in a patient with thyroid Hurthle cell carcinoma and sacral bone metastasis / 대한내과학회지

ABSTRACT

Hurthle 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. Hurthle 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 Hurthle cell carcinoma. Recently, we experienced a case of Hurthle 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.