Identification of tissue of origin in cancer of unknown primary using a targeted bisulfite sequencing panel

Author:

Bae Jeong Mo12,Ahn Ji Young3,Lee Heonyi3,Jang Hoon4,Han Hyojun4,Jeong Jaehwan4,Cho Nam-Yun2,Kim Kwangsoo5,Kang Gyeong Hoon12

Affiliation:

1. Department of Pathology, Seoul National University College of Medicine, Seoul, Korea

2. Laboratory of Epigenetics, Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea

3. Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea

4. Celemics Inc., Seoul, Korea

5. Transdisciplinary Department of Medicine and Advanced Technology, Seoul National University Hospital, Seoul, Korea

Abstract

Aim: To construct a targeted bisulfite sequencing panel predicting origin of cancer of unknown primary. Methods: A bisulfite sequencing panel targeting 2793 tissue-specific markers was performed in 100 clinical samples. Results: The authors' prediction model showed 0.85 accuracy for the ‘first-ranked’ tissue type and 0.93 accuracy for the ‘second-ranked’ tissue type using 2793 tissue-specific markers and 0.84 accuracy for the ‘first-ranked’ tissue type and 0.92 accuracy for the ‘second-ranked’ tissue type when the number of tissue-specific markers was reduced to 514. Conclusion: Targeted bisulfite sequencing is a useful method for predicting the tissue of origin in patients with cancer of unknown primary.

Funder

National Research Foundation of Korea

Seoul National University Hospital

Publisher

Future Medicine Ltd

Subject

Cancer Research,Genetics

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