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混合性腺神经内分泌癌中人乳头瘤病毒及Rb/E2F通路基因组改变的鉴定

Identification of human papillomavirus and Rb/E2F pathway genomic alterations in mixed adeno-neuroendocrine carcinoma.

作者信息

Ling Feng, Yang Zhihui

机构信息

Department of Pathology, The Affiliated Hospital of Southwest Medical University, Luzhou, China.

Precision Pathology Diagnosis for Serious Diseases Key Laboratory of LuZhou, China.

出版信息

Indian J Pathol Microbiol. 2025 Jan 1;68(1):79-87. doi: 10.4103/ijpm.ijpm_511_23. Epub 2024 Aug 8.

DOI:10.4103/ijpm.ijpm_511_23
PMID:39133238
Abstract

OBJECTIVE

To investigate the molecular characteristics of Rb/E2F in mixed adeno-neuroendocrine carcinoma (MANEC).

MATERIALS AND METHODS

The clinicopathological features of MANEC were analyzed. The protein expressions of Rb, p16, and p53 were detected by the immunohistochemical method. The infection status of high-risk human papillomavirus (HR-HPV) was evaluated by in situ hybridization (ISH) and the gene chip method.

RESULTS

Thirteen cases of MANEC were divided into four molecular patterns according to Rb protein expression and HPV status. Group 1: A total of eight of the 13 cases showed positive Rb protein expression and lack of HR-HPV expression (8/13, 62%). Rb protein expression with p16 protein deletion and p53 protein abnormal expression was unique to NEC. Group 2: three cases (3/13, 23%) with negative Rb protein expression and lack of HR-HPV expression. Group 3: There was one case (1/13, 8%) with positive expression of Rb protein accompanied by HR-HPV. Group 4: There was one case of Rb protein loss with an HR-HPV-positive status.

CONCLUSIONS

HR-HPV and Rb/p16/p53 pathway can be associated in MANEC pathogenesis, which provides the research basis for personalized treatment of MANEC.

摘要

目的

探讨混合性腺神经内分泌癌(MANEC)中Rb/E2F的分子特征。

材料与方法

分析MANEC的临床病理特征。采用免疫组织化学方法检测Rb、p16和p53的蛋白表达。通过原位杂交(ISH)和基因芯片法评估高危型人乳头瘤病毒(HR-HPV)的感染状况。

结果

根据Rb蛋白表达和HPV状态,将13例MANEC分为四种分子模式。第1组:13例中有8例Rb蛋白表达阳性且HR-HPV表达缺失(8/13,62%)。Rb蛋白表达伴p16蛋白缺失及p53蛋白异常表达是神经内分泌癌(NEC)所特有的。第2组:3例(3/13,23%)Rb蛋白表达阴性且HR-HPV表达缺失。第3组:1例(1/13,8%)Rb蛋白表达阳性并伴有HR-HPV。第4组:1例Rb蛋白缺失且HR-HPV阳性。

结论

HR-HPV与Rb/p16/p53通路可能与MANEC的发病机制相关,这为MANEC的个体化治疗提供了研究依据。

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