title: Variable alterations of mitochondrial microsatellite instability and DNA copy number in pulmonary hamartomas.
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.
authors: Department of Thoracic and Cardiovascular Surgery, Kyungpook National University Hospital, Kyungpook National University School of Medicine, Daegu, Korea.
authors: Deok Heon
authors: DH
authors: Lee
authors: Department of Anatomy, Keimyung University School of Medicine, Dongsan Medical Center, Daegu, Korea.
authors: Jae-Ho
authors: JH
authors: Lee
authors: Department of Thoracic and Cardiovascular Surgery, Keimyung University School of Medicine, Dongsan Medical Center, Daegu, Korea.
authors: Dong Yoon
authors: DY
authors: Keum
authors: Department of Medical Genetics, Keimyung University School of Medicine, Dongsan Medical Center, Daegu, Korea.
authors: Dae-Kwang
authors: DK
authors: Kim
mesh_terms: D056915:DNA Copy Number Variations; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006222:Hamartoma / Q000235:genetics*; D006801:Humans; D008171:Lung Diseases / Q000235:genetics*; D008175:Lung Neoplasms / Q000235:genetics; D008297:Male; D053842:Microsatellite Instability; D008875:Middle Aged
chemical_list: D004272:DNA, Mitochondrial
keywords: DNA copy number; Hamartoma; microsatellite instability