Molecular Changes in Endometrial Clear Cell Carcinomas and Carcinomas with Clear Cell Features
Deborah DeLair, Douglas Levine, Faina Bogomolniy, Stephanie Wethington, Guangming Han, Robert A Soslow. Memorial Sloan-Kettering Cancer Center, New York, NY; University of Calgary, Calgary, Canada
Background: Little is known about the molecular changes in endometrial clear cell carcinoma and endometrial carcinoma with clear cell changes. A group of 44 cases of endometrial carcinomas originally diagnosed as clear cell (CC), mixed clear cell (MEC), or carcinoma with clear cell changes were previously studied to evaluate diagnostic interobserver variability and immunoreactivities of the markers HNF-1β, p53, ER, and p16. Based on the consensus diagnoses of a panel of 5 gynecologic pathologists, the tumors were reclassified as CC, endometrioid (EC), serous (SC), undifferentiated (UD), carcinosarcoma (MMMT), or no consensus diagnosis (NCD). We sought to evaluate certain molecular changes in this group of tumors.
Design: Thirty-seven of these cases had adequate material for sequenom analysis for hotspot mutations in the genes PIK3CA, PIK3R1, KRAS, NRAS, and PTEN. These included 11 CC, 9 EC, 14 SC, 1 UD, 1 MMMT, and 1 NCD.
Results: Of the 37 studied cases, mutations were detected in 15 (41%) tumors. The results are shown in the table below as well as the corresponding immunophenotypes.
|CC||PIK3R1, PIK3CA, KRAS||+||-||-||-||DOD|
|EC||PIK3CA, KRAS, NRAS||+||+||-||-||LTF|