Combined large cell neuroendocrine carcinoma and endometrioid carcinoma of the endometrium: a shared gene mutation signature between the two histological components

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• 作者：Masayo Ariura ; Rika Kasajima ; Yohei Miyagi…
• 关键词：Endometrial cancer ; Large cell neuroendocrine carcinoma ; Gene alteration ; PI3 kinase activation
• 刊名：International Cancer Conference Journal
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：6
• 期：1
• 页码：11-15
• 全文大小：
• 刊物主题：Oncology; Surgical Oncology;
• 出版者：Springer Japan
• ISSN：2192-3183
• 卷排序：6

文摘

A 61-year-old Japanese woman was diagnosed with FIGO Stage IB endometrioid cancer (EC) combined with large cell neuroendocrine carcinoma (LCNEC). Metastasis to the lymph nodes in the right bronchopulmonary area, mediastinum and brain were also identified. The patient eventually developed pleuritis and pericarditis carcinomatosa, and died of cancer at 51 months after surgery. Because gene aberrations in uterine neuroendocrine carcinoma are still not well understood, we examined alterations in the mutational hotspots of 50 selected cancer-associated genes. The EC and LCNEC components shared identical alterations in PTEN, PIK3CA and FGFR3. Both the EC and LCNEC components had heterozygous SBSs on CTNNB1 but at different codons (G34R in EC, and T41A in LCNEC). The altered gene signature raised a possibility that the EC and LCNEC components were derived from a common precursor lesion. The LCNEC independently obtained a significant CTNNB1 mutation and the lymph node metastasis originated from this component. Because the LCNEC component seemed to bring about the aggressive course of the disease and defined the patient outcome, further investigations are needed to elucidate the mechanism of NE carcinoma development in the endometrium.