High-grade serous endometrial carcinoma (HGSEC) accounts for 10% of endometrial cancer (EC) cases but is responsible for at least 40% of EC-related deaths1. It has an overall survival rate of 18-27%, which has not improved over the past two decades2,3. The primary treatment for HGSEC is surgery, followed standard chemotherapy combinations (platinum and taxane) with or without localised radiotherapy, however, HGSEC is less responsive to chemotherapy than are other subtypes of EC1. Therefore, there is a great unmet need to find better treatment options for women with this aggressive cancer.
Apart from TP53 (mutated in up to 90% of cases), the other most frequently mutated genes in HGSEC are PPP2R1A (31%), PIK3CA (22%), FBXW7 (28%), CHD4 (17%) and BRCA2 (12%)5. Focal amplifications of MYC, ERBB2, CCNE1, FGFR3 and SOX17 are also common5. The presence of ERBB2 amplification and/or HER2 over-expression in around 30% of HGSEC suggests these patients may respond to HER2-targeting drugs, however, only modest benefit has so far been seen suggesting resistance mechanisms are present6,7. Another feature of HGSEC that could be exploited therapeutically is homologous recombination deficiency, which may confer sensitivity to PARP inhibitors (PARPi)8. HER2-targeting drugs and PARPi are yet to be approved for the treatment of HGSEC.
Due to its rarity and a lack of pre-clinical models, HGSEC has so far been understudied, resulting in a lack of effective treatment options. We currently have 34 HGSEC patients consented to the WEHI-Stafford Fox Rare Cancer Program and have developed pre-clinical models from fresh patient tumour samples (5 patient-derived xenograft (PDX) models and 2 cell lines validated). Preliminary molecular analysis of next-generation sequencing data has identified potential treatment targets. We are using the PDX models to develop organoid models for use in high-throughput drug assays in vitro. This will guide subsequent novel drug combination testing in our PDX models. Results from this study will direct future decisions about therapeutic strategies to improve survival of women with HGSEC.