Molecular comparison of concurrent components of high-grade dysplasia, adenocarcinoma, and sarcomatoid carcinoma in a case of sarcomatoid carcinoma of the gallbladder
Molecular comparison of concurrent components of high-grade dysplasia, adenocarcinoma, and sarcomatoid carcinoma in a case of sarcomatoid carcinoma of the gallbladder
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DOI：
10.1007/s00428-023-03524-7
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发表时间：
2023-03
期刊：
影响因子：
3.5
通讯作者：
K. Hirose;Y. Omori;Y. Ono;Y. Mizukami;Yoshiki Kaneko;T. Maruyama;H. Ohtani;T. Furukawa
中科院分区：
文献类型：
--
作者：
K. Hirose;Y. Omori;Y. Ono;Y. Mizukami;Yoshiki Kaneko;T. Maruyama;H. Ohtani;T. Furukawa
本文报告一例胆囊肉瘤样癌的详细遗传学和免疫组化特征。研究的是一个切除的胆囊肿瘤，涉及横结肠，其中包括3个组织病理学肿瘤成分，即，高度异型增生、腺癌和肉瘤样癌。靶向扩增子测序显示，所有3种组分中的TP 53（p.S90fs）和ARID 1A（c.4993 + 1G > T）均存在体细胞突变。CDKN 2A和SMAD 4的拷贝数在腺癌和肉瘤样组织中减少。免疫组化显示所有成分中p53和ARID1A表达缺失。p16表达在腺癌和肉瘤样成分中丢失，而SMAD 4表达仅在后者中丢失。这些结果表明，肉瘤样癌可能是从高度异型增生发展为腺癌，并伴有p53、ARID1A、p16和SMAD 4等分子畸变的连续积累。这些信息应该有助于了解这种非常难治性肿瘤的分子机制。
Detailed genetic and immunohistochemical features of a sarcomatoid carcinoma of the gallbladder were reported. Studied was a resected gallbladder tumor involving the transverse colon, which was consisted of 3 histopathological neoplastic components, i.e., high-grade dysplasia, adenocarcinoma, and sarcomatoid carcinoma. The targeted amplicon sequencing showed somatic mutations inTP53(p.S90fs) andARID1A(c.4993 + 1G > T) in all of the 3 components. Copy numbers ofCDKN2AandSMAD4were decreased in the adenocarcinoma and the sarcomatoid component. Immunohistochemistry showed loss of expression of p53 and ARID1A in all components. p16 expression was lost in the adenocarcinoma and the sarcomatoid component, while SMAD4 expression was lost only in the latter. These results suggest that this sarcomatoid carcinoma may have developed by progression from high-grade dysplasia via adenocarcinoma with sequential accumulation of molecular aberrations involving p53, ARID1A, p16, and SMAD4. This information should serve to understand the molecular mechanism of this very intractable tumor.