Abstract IA8: Discovering drivers in rare ovarian cancer subtypes

Abstract

Abstract Over the past several years it has become accepted that subtypes of ovarian carcinomas (high grade serous, endometriod, clear cell, low grade serous and mucinous carcinoma) are discrete diseases. Therefore, if we are to improve ovarian cancer morbidity and mortality, cancer prevention, early detection and/or screening strategies must be developed to deal with the challenges posed by each of these diseases. Whereas high grade serous carcinoma is relatively common, the other ovarian carcinoma subtypes represent 30% of cases in total and therefore are all rare. Rare cancers are usually marked by a combination of an unusual cells of origin and unusual mutations or other genomics drivers. We have undertaken a series of genomics studies to identify key drivers in rarer ovarian cancers. Some cancers such as granulosa cell tumors of the ovary and sertoli cell mutations have been found which are either pathognomonic or highly specific for that cancer type. Those mutations have great promise as diagnostics. Since the target cancers are rare such work is not possible without broad ranging international collaborations. For more common entities such as clear cell carcinoma concentrations of mutations can be found such as mutations in ARID1a. As such mutations are nonspecific they are less likely to be used diagnostically however this increases their potential therapeutic value. However, it is likely that the mutations or mutated genes have a specific role in the cell of origin of the cancers involved and therefore cell context specific cell lines of model systems will be required for functional validation. Although rare cancers are by definition unusual and therefore represent smaller medical problems they are of course highly significant to the patients involved and provide a model through which the stratification of management for common cancers can be undertaken. Citation Format: David G. Huntsman. Discovering drivers in rare ovarian cancer subtypes. [abstract]. In: Proceedings of the AACR Special Conference on Advances in Ovarian Cancer Research: From Concept to Clinic; Sep 18-21, 2013; Miami, FL. Philadelphia (PA): AACR; Clin Cancer Res 2013;19(19 Suppl):Abstract nr IA8.