Affiliations: [a] Department of Thoracic and Cardiovascular Surgery, Kyungpook National University Hospital, Kyungpook National University School of Medicine, Daegu, Korea | [b] Department of Anatomy, Keimyung University School of Medicine, Dongsan Medical Center, Daegu, Korea | [c] Department of Thoracic and Cardiovascular Surgery, Keimyung University School of Medicine, Dongsan Medical Center, Daegu, Korea | [d] Department of Medical Genetics, Keimyung University School of Medicine, Dongsan Medical Center, Daegu, Korea
Correspondence:
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Corresponding author: Dae-Kwang Kim, Department of Medical Genetics, Keimyung University School of Medicine, Dongsan Medical Center, 1095 Dalgubeol-daero, Dalseo-Gu, Daegu 42601, Korea. Tel.: +82 53 580 3832; Fax: +82 53 580 3717; E-mail:dkkim@dsmc.or.kr
Abstract: BACKGROUND:
The genetic alteration of mitochondrial DNA has been regarded as an
important step in the development of several human tumors. OBJECTIVE:
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. METHODS:
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. RESULTS:
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. CONCLUSIONS:
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.
Keywords: Hamartoma, microsatellite instability, DNA copy number
