Post-mortem Plasma Cell-Free DNA Sequencing: Proof-of-Concept Study for the "Liquid Autopsy".

Adult Aged Aged, 80 and over Autopsy / methods Cell-Free Nucleic Acids / blood Female Genetic Testing / methods Genomics / methods Humans Male Middle Aged Mutation / genetics Neoplasms / genetics Pilot Projects Plasma / metabolism Proof of Concept Study Exome Sequencing / methods

Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
07 02 2020
Historique:
received: 03 10 2019
accepted: 23 01 2020
entrez: 9 2 2020
pubmed: 9 2 2020
medline: 13 11 2020
Statut: epublish

Résumé

Recent genomic studies on cancer tissues obtained during rapid autopsy have provided insights into the clonal evolution and heterogeneity of cancer. However, post-mortem blood has not been subjected to genetic analyses in relation to cancer. We first confirmed that substantial quantities of cell-free DNA were present in the post-mortem plasma of 12 autopsy cases. Then, we focused on a pilot case of prostate cancer with multiple metastases for genetic analyses. Whole-exome sequencing of post-mortem plasma-derived cell-free DNA and eight frozen metastatic cancer tissues collected during rapid autopsy was performed, and compared their mutational statuses. The post-mortem plasma cell-free DNA was successfully sequenced and 344 mutations were identified. Of these, 160 were detected in at least one of the metastases. Further, 99% of the mutations shared by all metastases were present in the plasma. Sanger sequencing of 30 additional formalin-fixed metastases enabled us to map the clones harboring mutations initially detected only in the plasma. In conclusion, post-mortem blood, which is usually disposed of during conventional autopsies, can provide valuable data if sequenced in detail, especially regarding cancer heterogeneity. Furthermore, post-mortem plasma cell-free DNA sequencing (liquid autopsy) can be a novel platform for cancer research and a tool for genomic pathology.

Identifiants

DOI: 10.1038/s41598-020-59193-y PMID: 32034265 PMC: PMC7005783
pubmed: 32034265
doi: 10.1038/s41598-020-59193-y
pii: 10.1038/s41598-020-59193-y
pmc: PMC7005783
doi:

Substances chimiques

Cell-Free Nucleic Acids 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2120

Références

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Auteurs

Erina Takai (E)

Department of Cancer Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan.

Daichi Maeda (D)

Department of Clinical Genomics, Graduate School of Medicine, Osaka University, Osaka, Japan. maeda-tky@umin.ac.jp.
Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan. maeda-tky@umin.ac.jp.

Zhuo Li (Z)

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan.
Department of Laboratory Medicine, The First Affiliated Hospital of Xi'an Medical University, Xi'an, Shaanxi, P. R. China.

Yukitsugu Kudo-Asabe (Y)

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan.

Yasushi Totoki (Y)

Division of Cancer Genomics, National Cancer Center Research Institute, Tokyo, Japan.

Hiromi Nakamura (H)

Division of Cancer Genomics, National Cancer Center Research Institute, Tokyo, Japan.

Akiko Nakamura (A)

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan.
Faculty of Medicine, Akita University, Akita, Japan.

Rumi Nakamura (R)

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan.
Faculty of Medicine, Akita University, Akita, Japan.

Misato Kirikawa (M)

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan.
Faculty of Medicine, Akita University, Akita, Japan.

Yukinobu Ito (Y)

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan.

Makoto Yoshida (M)

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan.

Takamitsu Inoue (T)

Department of Urology, Graduate School of Medicine, Akita University, Akita, Japan.

Tomonori Habuchi (T)

Department of Urology, Graduate School of Medicine, Akita University, Akita, Japan.

Shohei Ikoma (S)

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

Hiroto Katoh (H)

Department of Genomic Pathology, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Mamoru Kato (M)

Department of Bioinformatics, National Cancer Center Research Institute, Tokyo, Japan.

Tatsuhiro Shibata (T)

Division of Cancer Genomics, National Cancer Center Research Institute, Tokyo, Japan.
Laboratory of Molecular Medicine, Human Genome Center, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.

Shumpei Ishikawa (S)

Department of Genomic Pathology, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Shinichi Yachida (S)

Department of Cancer Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan.
Division of Cancer Genomics, National Cancer Center Research Institute, Tokyo, Japan.

Akiteru Goto (A)

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan.

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