A Novel microRNA-Based Test Demonstrate above 90% Accuracy in Classification of Metastatic Tumors from Patients Diagnosed with Carcinoma of Unknown Primary
Mats Sanden, George Pentheroudakis, Brianna St. Cyr, Anna Goussia, Danit Lebanony, Katerina Stoyianni, Alexander Faerman, George Fountzilas, Lahav Cohen, Vassiliki Malamou-Mitsi, Nicholas Pavlidis. Rosetta Genomics Inc., Philadelphia, PA; Ioannina University Hospital, Ioannina, Greece; Rosetta Genomics Ltd., Rehovot, Israel; Hellenic Cooperative Oncology Group, Athens, Greece
Background: Identification of the tissue of origin of metastatic tumor is vital to its management. Carcinoma of unknown primary (CUP) is common in oncology, representing 3-5% of all invasive malignancies. A microarray-based test that measures the expression of 64 microRNAs was employed to identify the tissue of origin of metastatic tumors of CUP cases.
Design: A cohort of resected metastatic lesions from patients diagnosed with CUP was studied. The cohort included 93 samples (from 92 patients) with adequate tissue sample needed for the test. Eight samples failed due to inadequate RNA quality; 85 samples (84 patients) were processed successfully. Test results were compared with clinical presentation including imaging, pathological data (histology and IHC) and therapeutic response.
Results: In this blinded study, the test results were fully concordant with the diagnosis based on all the clinical and pathological information available including follow-up and outcome data in over 90% of the cases. The microRNA test assigned a single putative tissue of origin for 50 samples and two tissues of origin in 34 patients with the first being the more likely diagnosis. When comparing only the first (or single) diagnosis, a concordant level of >83% is achieved. The diagnosis based on the clinical and pathological data that was available at presentation and without additional data gathered throughout patient management had only 70% agreement with the test results. Additional clinical and pathological analysis of the CUP cases is currently ongoing.
Conclusions: In a cohort of metastases from CUP patients, a previously developed test based on the expression profile of 64 microRNAs allowed accurate identification of tissue of origin in the vast majority of the cases. The high accuracy of this test in identifying the tissue of origin of metastasis of unknown primary has been validated by this study and demonstrates its clinical utility. The high concordance of the test results to the final diagnosis of the patient demonstrates the importance of the test to yield additional data valuable for patient's management at an early stage of patient's journey.
Category: Special Category - Pan-genomic/Pan-proteomic approaches to Cancer
Tuesday, March 20, 2012 9:30 AM
Poster Session III # 267, Tuesday Morning