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Series GSE256413 Query DataSets for GSE256413
Status Public on Mar 04, 2024
Title DNA methylation profiles of lymph node tissue of head and neck cancer of unknown primary
Organism Homo sapiens
Experiment type Methylation profiling by genome tiling array
Summary Background. The unknown tissue of origin in head and neck cancer of unknown primary (hnCUP) leads to invasive diagnostic procedures and unspecific and potentially inefficient treatment options for patients. The most common histological subtype, squamous cell carcinoma, can stem from various tumor primary sites, including the oral cavity, oropharynx, larynx, head and neck skin, lungs, and esophagus. DNA methylation profiles are highly tissue-specific and have been successfully used to classify tissue origin. We therefore developed a support vector machine (SVM) classifier trained with publicly available DNA methylation profiles of commonly cervically metastasizing squamous cell carcinomas (n = 1,103) in order to identify the primary tissue of origin of our own cohort of squamous cell hnCUP patient’s samples (n = 28). Methylation analysis was performed with Infinium MethylationEPIC v1.0 BeadChip by Illumina. Results. The SVM algorithm achieved the highest overall accuracy of tested classifiers, with 87%. Squamous cell hnCUP samples on DNA methylation level resembled squamous cell carcinomas commonly metastasizing into cervical lymph nodes. The most frequently predicted cancer localization was the oral cavity in 11 cases (39%), followed by the oropharynx and larynx (both 7, 25%), skin (2, 7%), and esophagus (1, 4%). These frequencies concord with the expected distribution of lymph node metastases in epidemiological studies. Conclusions. On DNA methylation level, hnCUP is comparable to primary tumor tissue cancer types that commonly metastasize to cervical lymph nodes. Our SVM-based classifier can accurately predict these cancers’ tissues of origin and could significantly reduce the invasiveness of hnCUP diagnostics and enable a more precise therapy after clinical validation.
 
Overall design Bisulphite treated genomic DNA from 28 lymph nodes (FFPE) and 28 patients, one lymph node per patient, were hybridised to an Illumina Infinium MethylationEPIC v1.0 Array. One array per sample, no replicates, no control samples.
 
Contributor(s) Stark L, Winter C, Wirth M
Citation(s) 38528631
Submission date Feb 22, 2024
Last update date Apr 05, 2024
Contact name Christof Winter
Organization name Technical University of Munich
Street address Ismaninger Str. 22
City Munich
ZIP/Postal code 81675
Country Germany
 
Platforms (1)
GPL21145 Infinium MethylationEPIC
Samples (28)
GSM8098170 lymph node tissue (FFPE) from patient C05
GSM8098171 lymph node tissue (FFPE) from patient C06
GSM8098172 lymph node tissue (FFPE) from patient C08
Relations
BioProject PRJNA1079373

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE256413_RAW.tar 548.4 Mb (http)(custom) TAR (of IDAT)

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