小肠母细胞结肠腺癌中HER2扩增的新识别。诊断线索和未来展望

Leoncini Giuseppe, Sabella Giovanna, Milione Massimo
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引用次数: 0

摘要

散发性结肠腺癌的肠母细胞分化是一种罕见的事件,缺乏充分的阐明。其特点是具有侵袭性的生物学行为,具有早期转移扩散和预后差。迄今为止,诊断线索和分子特征尚未完全阐明。组织学特征包括小管-乳头状结构,肿瘤细胞清除,胎儿癌蛋白表达是诊断要求。我们报告一例乙状结肠肠母细胞腺癌(CAED)的新病例,表现为小肠表型,诊断阶段较高,早期肝转移。在分子水平上,CAED与传统的结肠腺癌具有TP53基因突变和β -连环蛋白核易位。人类表皮生长因子受体(HER) 2信号的改变已经在一小部分常规结肠腺癌中被描述。据我们所知,我们的报告代表了CAED中HER2基因扩增的首次免疫组织化学识别。鉴于其积极的临床行为,临床医生应该意识到可能的HER2扩增,这可能指向进一步的治疗选择。
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Novel Recognition of HER2 Amplification in Enteroblastic Colonic Adenocarcinoma. Diagnostic Clues and Future Perspectives
Enteroblastic differentiation in sporadic colonic adenocarcinoma was a rare event that lacks to be fully elucidated. It was characterized by an aggressive biological behavior, with early metastatic spread and poor prognosis. Diagnostic clues and molecular features were not completely elucidated so far. Histological features including tubulo-papillary architecture, cleared neoplastic cells, fetal oncoproteins expression were diagnostic requirements. We describe a new case of enteroblastic colonic adenocarcinoma (CAED) in the sigmoid, exhibiting small intestinal phenotype, higher stage at diagnosis and early liver metastases. At molecular level, CAED shared both TP53 gene mutation and beta-catenin nuclear translocation with conventional colonic adenocarcinoma. Altered human epidermal growth factor receptor (HER) 2 signaling has been described in a small subset of conventional colonic adenocarcinoma. At best of our knowledge our report represents the first immunohistochemical recognition of HER2 gene amplification in CAED. Given its aggressive clinical behavior, clinicians should be aware of the possible HER2 amplification, that could point toward further treatment options.
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