Department of Pathology, Shizuoka City Shimizu Hospital, Shizuoka, 424-8636, Japan.
Arch Gynecol Obstet. 2010 Oct;282(4):413-6. doi: 10.1007/s00404-009-1324-5. Epub 2009 Dec 25.
Primary small cell carcinoma of the endometrium is very rare, and there have been no reports on KIT and PDGFRA in endometrial small cell carcinoma.
An 87-year-old woman was admitted to our hospital because of genital bleeding. Endometrial cytology and biopsy revealed small cell carcinoma. Scrutiny of the body showed stage III endometrial carcinoma with metastases. An immunohistochemical study of the biopsy specimens revealed positive reactions for synaptophysin, CD56, KIT, and PDGFRA, and negative reactions for cytokeratins, neuron-specific enolase, and chromogranin. A molecular genetic analysis using PCR-direct sequencing identified no mutations of KIT (exons 9, 11, 13, and 17) and PDGFRA (exons 12 and 18) genes. The patient received chemotherapy and radiation, but showed a downhill course, and died of carcinomatosis 6 months after the initial presentation.
The present case is the first reported case of primary small cell carcinoma of the endometrium with an examination of KIT and PDGFRA expressions and KIT and PDFGRA gene mutations.
原发性子宫内膜小细胞癌非常罕见，目前尚无关于子宫内膜小细胞癌中 KIT 和 PDGFRA 的报道。
一位 87 岁女性因生殖器出血而入院。子宫内膜细胞学和活检显示小细胞癌。全身检查显示 III 期子宫内膜癌伴转移。对活检标本进行免疫组织化学研究显示突触素、CD56、KIT 和 PDGFRA 阳性反应，细胞角蛋白、神经元特异性烯醇化酶和嗜铬粒蛋白阴性反应。采用 PCR 直接测序的分子遗传学分析未发现 KIT（外显子 9、11、13 和 17）和 PDGFRA（外显子 12 和 18）基因的突变。患者接受了化疗和放疗，但病情恶化，在初次就诊后 6 个月死于癌转移。
本病例是首例报道的原发性子宫内膜小细胞癌，检测了 KIT 和 PDGFRA 的表达以及 KIT 和 PDFGRA 基因突变。
