Pan-cancer methylome analysis for cancer diagnosis and classification of cancer cell of origin.
Journal
Cancer gene therapy
ISSN: 1476-5500
Titre abrégé: Cancer Gene Ther
Pays: England
ID NLM: 9432230
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
received:
13
05
2021
accepted:
14
10
2021
revised:
26
09
2021
pubmed:
9
11
2021
medline:
20
5
2022
entrez:
8
11
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34744163
doi: 10.1038/s41417-021-00401-w
pii: 10.1038/s41417-021-00401-w
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
428-436Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Nature America, Inc.
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