Pilar Ramos, Anthony N Karnezis, William P D Hendricks, Yemin Wang, Waibhav Tembe, Victoria L Zismann, Christophe Legendre, Winnie S Liang, Megan L Russell, David W Craig, John H Farley, Bradley J Monk, Stephen P Anthony, Aleksandar Sekulic, Heather E Cunliffe, David G Huntsman, Jeffrey M Trent
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare and understudied cancer with a dismal prognosis. SCCOHT's infrequency has hindered empirical study of its biology and clinical management. However, we and others have recently identified inactivating mutations in the SWI/SNF chromatin remodeling gene SMARCA4 with concomitant loss of SMARCA4 protein in the majority of SCCOHT tumors.(1-4) Here we summarize these findings and report SMARCA4 status by targeted sequencing and/or immunohistochemistry (IHC) in an additional 12 SCCOHT tumors, 3 matched germlines, and the cell line SCCOHT-1...
2014: Rare Diseases