Variable alterations of mitochondrial microsatellite instability and DNA copy number in pulmonary hamartomas

The genetic alteration of mitochondrial DNA has been regarded as an important step in the development of several human tumors.

The purpose of this study was to identify frequency of mitochondrial microsatellite instability (mtMSI) and alterations in mitochondrial DNA copy number (mtCN) in pulmonary hamartoma.

DNA was isolated from tumor tissue and matched non-tumor tissue in 30 patients with pulmonary hamartoma. BAT 25 and 26 were used as nucleus MSI (nMSI) markers, and (C)n and (CA)n in D-loop were used as mtMSI markers. MtCNs were quantified using a competitive quantitative real-time polymerase chain reaction.

nMSI was detected in 5 patients (23.8%) and mtMSI was detected in 2 patients (9.5%) of total 21 hamartoma. There were 14 patients (46.7%), 2 patients (6.7%), and a further 14 patients (46.7%) in the decreased, no change, and increased mtCN groups, respectively. The mean relative mtCN were 0.4 ± 0.3 in the decreased and 3.9 ± 5.1 in the increased mtCN groups, respectively.

nMSI was more frequently appeared than mtMSI in hamartomas, and we also found measurements of mtCNs in patients with pulmonary hamartoma to be extremely variable without any characteristic pattern.