TY - BOOK
T1 - The Study of Lung Cancer Personalized Medicine Through Circulating Cell Free DNA Test
AU - Ye, Mingzhi
PY - 2016
Y1 - 2016
N2 - According to the serious situation of lung cancer in Chinese cancer incidence and mortality,
better prognosis and early diagnosis are the key problems. These works are around of lung cancer
genetic profiling, pathway signaling and tumor evolution, targeted therapy and transplant
monitoring, and finally to search a better way of early diagnosis for lung cancer prevention. The
study of the first large-scale sequencing effort on lung adenocarcinoma in Asian patients provides
a comprehensive mutational landscape for both primary and metastatic tumours. This may thus
form a basis for personalized medical care and enhance the molecular pathogenesis of metastatic
lung adenocarcinoma. With findings of genomic and transcriptomic analysis in primary lung
adenocarcinomas and corresponding lymph node metastases from Chinese patientsVIdentification
of 13 significantly mutated genes including TP53, RHPN2, GLI3 and MRC2; TP53 mutations are
significantly enriched in tumours from metastases patients; High expression level of IQGAP3
which was identified as a marker for poor prognosis. Also, next-generation sequencing is a
promising cost effective and rapid technique for routine diagnostics of SNVs, InDels, CNVs, and
SV in 145 genes with FFPE clinical specimens. While, couple with relatively geological
distributions of different subtypes, tumor microenvironment might contribute more to genetic
instability and thus tumor evolutions. As for the therapy and rejection monitoring of lung cancer
patients, cell-free donor DNA had been tested. The level of donor DNA from lung allograft
recipient plasma diagnosed with clinical signs of accuracy 87.03±5.9%, sensitivity 80% and
specificity 100%. Besides, the same whole genome sequencing data was also effective for
pathogenic factor, especially for CMV infection. DNA mutation and clonal expansion in human
blood was prevalent in cancer patients and cf-DNA somatic mutation seems to be ideal cancer
early diagnosis biomarkers due to its advantages. By using cell-free tumor DNA and peripheral
nodule ultra-deep sequencing (>10,000 fold), mutations from nodule tissues had well performance
of malignant and benign with clinic pathology; while plasma DNA mutations may have been used
to predict tumor mutation level by the tumor burden model and helps molecular pathological
identification in early stage.
AB - According to the serious situation of lung cancer in Chinese cancer incidence and mortality,
better prognosis and early diagnosis are the key problems. These works are around of lung cancer
genetic profiling, pathway signaling and tumor evolution, targeted therapy and transplant
monitoring, and finally to search a better way of early diagnosis for lung cancer prevention. The
study of the first large-scale sequencing effort on lung adenocarcinoma in Asian patients provides
a comprehensive mutational landscape for both primary and metastatic tumours. This may thus
form a basis for personalized medical care and enhance the molecular pathogenesis of metastatic
lung adenocarcinoma. With findings of genomic and transcriptomic analysis in primary lung
adenocarcinomas and corresponding lymph node metastases from Chinese patientsVIdentification
of 13 significantly mutated genes including TP53, RHPN2, GLI3 and MRC2; TP53 mutations are
significantly enriched in tumours from metastases patients; High expression level of IQGAP3
which was identified as a marker for poor prognosis. Also, next-generation sequencing is a
promising cost effective and rapid technique for routine diagnostics of SNVs, InDels, CNVs, and
SV in 145 genes with FFPE clinical specimens. While, couple with relatively geological
distributions of different subtypes, tumor microenvironment might contribute more to genetic
instability and thus tumor evolutions. As for the therapy and rejection monitoring of lung cancer
patients, cell-free donor DNA had been tested. The level of donor DNA from lung allograft
recipient plasma diagnosed with clinical signs of accuracy 87.03±5.9%, sensitivity 80% and
specificity 100%. Besides, the same whole genome sequencing data was also effective for
pathogenic factor, especially for CMV infection. DNA mutation and clonal expansion in human
blood was prevalent in cancer patients and cf-DNA somatic mutation seems to be ideal cancer
early diagnosis biomarkers due to its advantages. By using cell-free tumor DNA and peripheral
nodule ultra-deep sequencing (>10,000 fold), mutations from nodule tissues had well performance
of malignant and benign with clinic pathology; while plasma DNA mutations may have been used
to predict tumor mutation level by the tumor burden model and helps molecular pathological
identification in early stage.
UR - https://rex.kb.dk/primo-explore/fulldisplay?docid=KGL01011892749&context=L&vid=NUI&search_scope=KGL&tab=default_tab&lang=da_DK
M3 - Ph.D. thesis
BT - The Study of Lung Cancer Personalized Medicine Through Circulating Cell Free DNA Test
PB - Department of Biology, Faculty of Science, University of Copenhagen
ER -
