Methodological Reports:
A Gene Expression Profile Test for the Differential Diagnosis of Ovarian Versus Endometrial Cancers
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Abstract
1 Pathwork Diagnostics, Redwood City, CA-94063
2 Department of Radiation Oncology, Stanford University, Stanford, CA-94305
Received: January 15, 2012; Accepted: February 21, 2012; Published: February 23, 2012;
Keywords: gene expression, tissue of origin, endometrial cancer, ovarian cancer, diagnostic test
Correspondence:
Anita Lal,
Abstract
We have developed a gene expression profile test (Pathwork Tissue of Origin Endometrial Test) that distinguishes primary epithelial ovarian and endometrial cancers in formalin-fixed, paraffin-embedded (FFPE) specimens using a 316–gene classification model. The test was validated in a blinded study using a pre-specified algorithm and microarray files for 75 metastatic, poorly differentiated or undifferentiated specimens with a known ovarian or endometrial cancer diagnosis. Measures of test performance include a 94.7% overall agreement with the known diagnosis, an area under the ROC curve (AUC) of 0.997 and a diagnostic odds ratio (DOR) of 406. Ovarian cancers (n=30) gave an agreement of 96.7% with the known diagnosis while endometrial cancers (n=45) gave an agreement of 93.3%. In a precision study, concordance in test results was 100%. Reproducibility in test results between three laboratories was 94.3%. The Tissue of Origin Endometrial Test can aid in resolving important differential diagnostic questions in gynecologic oncology.
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