, Volume 282, Issue 4, pp 413-416

KIT-positive primary small cell carcinoma of the endometrium: a case report with immunohistochemical and molecular genetic analysis of KIT and PDGFRA genes

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Abstract

Background

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.

Case report

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.

Conclusion

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.