Detection of somatic mutations in deteriorated cell of peritoneal mesothelioma by whole genome sequencing / 浙江大学学报·医学版

ABSTRACT

<p><b>OBJECTIVE</b>To detect the somatic mutations in peritoneal mesothelioma with whole genome sequencing technique.</p><p><b>METHODS</b>Surgically resected cancer and pericancerous tissue samples from one patient with peritoneal mesothelioma were obtained. The whole genome sequences of tumor tissue and pericancerous tissue were examined by the second generation sequencing technique and compared with reference sequences from human genome database.</p><p><b>RESULTS</b>There were 639 717 single nucleotide variations (Single Nucleotide Variation SNV) found in both tumor and pericancerous tissue cells; while 20 302 SNVs were unique for tumor cells and 2 185 SNVs unique for pericancerous tissue, but still 223 SNVs found in cancer and pericancerous tissue were differed from those in human genome database.</p><p><b>CONCLUSION</b>The preliminary results indicate that merely comparing the gene sequences of cancer and pericancerous tissue samples in an individual with the human genome reference sequence can not accurately locate all somatic mutations in pathological cells. For those individualized diseases caused by random somatic mutations, it is suggested to sequence the whole genome at birth or at least to reserve a DNA sample at early age for both research and clinical needs.</p>