Detection of clonal mitochondrial DNA mutation in airway mucosa of follow-up lung cancer patients

作者: William Westra , David Sidransky , Rex Yung , Santanu Dasgupta

DOI:

关键词: MetaplasiaCarcinoma in situGermline mutationPathologyMutationBiologyMitochondrial DNALung cancerDysplasiaLesion

摘要: A5 Mitochondrial DNA mutations were reported in various cancers but very little is known whether these can be used for diagnostic or prognostic purposes. We examined 30 lesions from 5 follow-up lung cancer patients comprised of tumor, matched airway mucosa, metaplasia and tumor adjacent normal epithelium on high throughput Affymetrix Mitochip 2.0 array platform. The mucosal designated abnormal suspicious mild-moderate-severe dysplasia carcinoma situ based Auto-Fluorescence-Bronchoscopy (AFB) HUGO pathological classification. At least one somatic mutation was detected each lesion analyzed. A total 64 with 75% (48/64) the coding regions 25% (16/64) non-coding mtDNA. mutational hot spots at ND1 (14 mutation) COI (10 mutations) 2-4 identical noted among 4 patients. In 3 out patients, evident corresponding lesions. range 1-15 detectable One patient operated twice right left lobe respectively within a span two years we multiple mtDNA (20/20) both tumors this patient. Fifteen twenty also Moreover, significant correlation between smoking number observed (P

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