Pan-cancer methylome analysis for cancer diagnosis and classification of cancer cell of origin

The accurate and early diagnosis and classification of cancer origin from either tissue or liquid biopsy is crucial for selecting the appropriate treatment and reducing cancer-related mortality. Here, we established the CAncer Cell-of-Origin (CACO) methylation panel using the methylation data of the...

Full description

Saved in:
Bibliographic Details
Published inCancer gene therapy Vol. 29; no. 5; pp. 428 - 436
Main Authors Shimizu, Dai, Taniue, Kenzui, Matsui, Yusuke, Haeno, Hiroshi, Araki, Hiromitsu, Miura, Fumihito, Fukunaga, Mitsuko, Shiraishi, Kenji, Miyamoto, Yuji, Tsukamoto, Seiichi, Komine, Aya, Kobayashi, Yuta, Kitagawa, Akihiro, Yoshikawa, Yukihiro, Sato, Kuniaki, Saito, Tomoko, Ito, Shuhei, Masuda, Takaaki, Niida, Atsushi, Suzuki, Makoto, Baba, Hideo, Ito, Takashi, Akimitsu, Nobuyoshi, Kodera, Yasuhiro, Mimori, Koshi
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.05.2022
Nature Publishing Group
Subjects
13/105
38/22
38/23
38/61
631/67/1857
631/67/69
Biomarkers, Tumor - genetics
Biomedical and Life Sciences
Biomedicine
Biopsy
Cancer
Diagnosis
DNA Methylation
Epigenome
Gene Expression
Gene Therapy
Genomes
Humans
Metastases
Neoplasms - diagnosis
Neoplasms - genetics
Sensitivity and Specificity
Specimen preparation
Online AccessGet full text

Cover

More Information
Summary:The accurate and early diagnosis and classification of cancer origin from either tissue or liquid biopsy is crucial for selecting the appropriate treatment and reducing cancer-related mortality. Here, we established the CAncer Cell-of-Origin (CACO) methylation panel using the methylation data of the 28 types of cancer in The Cancer Genome Atlas (7950 patients and 707 normal controls) as well as healthy whole blood samples (95 subjects). We showed that the CACO methylation panel had high diagnostic potential with high sensitivity and specificity in the discovery (maximum AUC = 0.998) and validation (maximum AUC = 1.000) cohorts. Moreover, we confirmed that the CACO methylation panel could identify the cancer cell type of origin using the methylation profile from liquid as well as tissue biopsy, including primary, metastatic, and multiregional cancer samples and cancer of unknown primary, independent of the methylation analysis platform and specimen preparation method. Together, the CACO methylation panel can be a powerful tool for the classification and diagnosis of cancer.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0929-1903
1476-5500
DOI:10.1038/s41417-021-00401-w