Tissue of origin prediction for cancer of unknown primary using a targeted methylation sequencing panel.

ABSTRACT:

Rationale

Cancer of unknown primary (CUP) is a group of rare malignancies with poor prognosis and unidentifiable tissue-of-origin. Distinct DNA methylation patterns in different tissues and cancer types enable the identification of the tissue of origin in CUP patients, which could help risk assessment and guide site-directed therapy.

Methods

Using genome-wide DNA methylation profile datasets from The Cancer Genome Atlas (TCGA) and machine learning methods, we developed a 200-CpG methylation feature classifier for CUP tissue of origin prediction (MFCUP). MFCUP was further validated with public-available methylation array data of 2977 specimens and targeted methylation sequencing of 78 Formalin-fixed paraffin-embedded (FFPE) samples from a single center.

Results

MFCUP a

SUBMITTER: Sun M 

PROVIDER: S-EPMC10854167 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature