Whole-genome sequencing of matched primary and metastatic hepatocellular carcinomas

Ouyang, Limei, Lee, Jeeyun, Park, Cheol-Keun, Mao, Mao, Shi, Yujian, Gong, Zhuolin, Zheng, Hancheng, Li, Yingrui, Zhao, Yonggang, Wang, Guangbiao, Fu, Huiling, Kim, Jhingook and Lim, Ho Yeong (2014) Whole-genome sequencing of matched primary and metastatic hepatocellular carcinomas. BMC Medical Genomics, 7 2: . doi:10.1186/1755-8794-7-2

Author Ouyang, Limei
Lee, Jeeyun
Park, Cheol-Keun
Mao, Mao
Shi, Yujian
Gong, Zhuolin
Zheng, Hancheng
Li, Yingrui
Zhao, Yonggang
Wang, Guangbiao
Fu, Huiling
Kim, Jhingook
Lim, Ho Yeong
Title Whole-genome sequencing of matched primary and metastatic hepatocellular carcinomas
Journal name BMC Medical Genomics   Check publisher's open access policy
ISSN 1755-8794
Publication date 2014-01-09
Year available 2014
Sub-type Article (original research)
DOI 10.1186/1755-8794-7-2
Open Access Status DOI
Volume 7
Issue 2
Total pages 13
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
To gain biological insights into lung metastases from hepatocellular carcinoma (HCC), we compared the whole-genome sequencing profiles of primary HCC and paired lung metastases.

We used whole-genome sequencing at 33X-43X coverage to profile somatic mutations in primary HCC (HBV+) and metachronous lung metastases (> 2 years interval).

In total, 5,027-13,961 and 5,275-12,624 somatic single-nucleotide variants (SNVs) were detected in primary HCC and lung metastases, respectively. Generally, 38.88-78.49% of SNVs detected in metastases were present in primary tumors. We identified 65–221 structural variations (SVs) in primary tumors and 60–232 SVs in metastases. Comparison of these SVs shows very similar and largely overlapped mutated segments between primary and metastatic tumors. Copy number alterations between primary and metastatic pairs were also found to be closely related. Together, these preservations in genomic profiles from liver primary tumors to metachronous lung metastases indicate that the genomic features during tumorigenesis may be retained during metastasis.

We found very similar genomic alterations between primary and metastatic tumors, with a few mutations found specifically in lung metastases, which may explain the clinical observation that both primary and metastatic tumors are usually sensitive or resistant to the same systemic treatments.
Keyword Cancer
Hepatocellular carcinomas (HCC)
Lung metastasis
Next-generation sequencing (NGS)
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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