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fusions, including -, have been identified as potential oncogenic drivers and actionable alterations in a number of different cancer types. The clinical relevance of fusions in endometrial cancer has not yet been described. Formalin-fixed, paraffin-embedded metastatic endometrial carcinoma from the spleen and peritoneum were sent for comprehensive genomic profiling (CGP) using the FoundationOne platform as part of a prospective tumor genomic profiling protocol. We report the identification of an - fusion in a case of metastatic endometrioid endometrial cancer. Other potentially actionable alterations detected in this specimen included T1025S and an uncharacterized rearrangement involving The patient initially received an FGFR inhibitor as an investigational agent and experienced stable disease with complete resolution of a pelvic nodule; however, treatment had to be discontinued because of intolerable side effects. A PET/CT scan nearly 3 mo after discontinuation showed disease progression. She subsequently received the mTOR inhibitor, temsirolimus, later accompanied by letrozole, and achieved stable disease. Clinical benefit was attributed to the mTOR inhibitor as tumor stained negative for estrogen receptor. Temsirolimus was discontinued after >17 mo because of disease progression. FGFR inhibitors may have clinical benefit in the treatment of endometrial carcinoma with - fusions. Additionally, clinical benefit from an mTOR inhibitor may reflect a response to targeting the alteration in or More research is needed to understand the activity of fusions on tumors and to discover additional therapeutic options for endometrial carcinoma patients with this gene fusion.

fusions, including -, have been identified as potential oncogenic drivers and actionable alterations in a number of different cancer types. The clinical relevance of fusions in endometrial cancer has not yet been described. Formalin-fixed, paraffin-embedded metastatic endometrial carcinoma from the spleen and peritoneum were sent for comprehensive genomic profiling (CGP) using the FoundationOne platform as part of a prospective tumor genomic profiling protocol. We report the identification of an - fusion in a case of metastatic endometrioid endometrial cancer. Other potentially actionable alterations detected in this specimen included T1025S and an uncharacterized rearrangement involving The patient initially received an FGFR inhibitor as an investigational agent and experienced stable disease with complete resolution of a pelvic nodule; however, treatment had to be discontinued because of intolerable side effects. A PET/CT scan nearly 3 mo after discontinuation showed disease progression. She subsequently received the mTOR inhibitor, temsirolimus, later accompanied by letrozole, and achieved stable disease. Clinical benefit was attributed to the mTOR inhibitor as tumor stained negative for estrogen receptor. Temsirolimus was discontinued after >17 mo because of disease progression. FGFR inhibitors may have clinical benefit in the treatment of endometrial carcinoma with - fusions. Additionally, clinical benefit from an mTOR inhibitor may reflect a response to targeting the alteration in or More research is needed to understand the activity of fusions on tumors and to discover additional therapeutic options for endometrial carcinoma patients with this gene fusion.

包括-在内的融合基因已被确定为多种不同癌症类型中的潜在致癌驱动因素和可靶向治疗的改变。子宫内膜癌中融合基因的临床相关性尚未见报道。作为前瞻性肿瘤基因组分析方案的一部分，来自脾脏和腹膜的福尔马林固定、石蜡包埋的转移性子宫内膜癌被送去使用FoundationOne平台进行全面基因组分析（CGP）。我们报告了在一例转移性子宫内膜样腺癌病例中鉴定出一种-融合基因。在该标本中检测到的其他潜在可靶向治疗的改变包括T1025S和涉及的一种未鉴定的重排。患者最初接受FGFR抑制剂作为研究性药物，病情稳定，盆腔结节完全消退；然而，由于无法耐受的副作用，治疗不得不中断。停药近3个月后的PET/CT扫描显示疾病进展。她随后接受了mTOR抑制剂替西罗莫司治疗，后来联合来曲唑，病情稳定。临床获益归因于mTOR抑制剂，因为肿瘤雌激素受体染色为阴性。由于疾病进展，替西罗莫司在治疗超过17个月后停药。FGFR抑制剂可能对治疗具有-融合基因的子宫内膜癌有临床益处。此外，mTOR抑制剂的临床获益可能反映了对靶向或改变的反应。需要更多的研究来了解融合基因对肿瘤的作用，并为患有这种基因融合的子宫内膜癌患者发现更多的治疗选择。