title: A gene expression profile test for the differential diagnosis of ovarian versus endometrial cancers.
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.
authors.affiliation: Pathwork Diagnostics, Redwood City, CA, USA. alal@pathworkdx.com
authors.forename: Anita
authors.initials: A
authors.lastname: Lal
authors.forename: Rebecca
authors.initials: R
authors.lastname: Panos
authors.forename: Mira
authors.initials: M
authors.lastname: Marjanovic
authors.forename: Michael
authors.initials: M
authors.lastname: Walker
authors.forename: Eloisa
authors.initials: E
authors.lastname: Fuentes
authors.forename: Daniel S
authors.initials: DS
authors.lastname: Kapp
authors.forename: W David
authors.initials: WD
authors.lastname: Henner
authors.forename: Ljubomir J
authors.initials: LJ
authors.lastname: Buturovic
authors.forename: Meredith
authors.initials: M
authors.lastname: Halks-Miller
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016889:Endometrial Neoplasms / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling / Q000379:methods*; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D060787:Neoplasm Grading; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics