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理解膀胱癌小细胞癌的遗传特征及其对诊断、预后和治疗的影响:综述。

Understanding the Genetic Landscape of Small Cell Carcinoma of the Urinary Bladder and Implications for Diagnosis, Prognosis, and Treatment: A Review.

机构信息

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis.

Department of Urology, Indiana University School of Medicine, Indianapolis.

出版信息

JAMA Oncol. 2017 Nov 1;3(11):1570-1578. doi: 10.1001/jamaoncol.2016.7013.

Abstract

IMPORTANCE

Small cell carcinoma of the urinary bladder is a rare and aggressive neuroendocrine tumor of the urinary bladder. Although research has been performed since the first case was reported in 1981, most of our understanding of the disease treatments has been extrapolated from small cell carcinoma of the lung. However, current data on patient survival have been stagnant.

OBSERVATIONS

With the advent of advanced molecular diagnostic methods, a new potential for understanding the origin and treatment of small cell carcinoma of the urinary bladder has become evident. Similar to published studies of small cell carcinoma of the lung, collaborative efforts and accessible genome-phenome databases have partially elucidated the genomic landscape. With these efforts, additional potential areas of treatment, such as targeting driver mutations, immunotherapy, stem cell modulation, and novel drug candidates, have been identified. Moreover, identification of novel biomarkers and improved radiological methods may complement our understanding of the course of disease relative to diagnosis, staging, prognosis, and response to treatment. Such early discoveries have been facilitated with novel animal-based models.

CONCLUSIONS AND RELEVANCE

The direction of investigation of small cell carcinoma of the urinary bladder using novel methods to understand the genomic landscape for new treatments remains preliminary. However, such studies are maturing and may foster clinical research, with opportunities to enhance the survival and health-related quality of life of individuals with this disease.

摘要

重要性

膀胱小细胞癌是一种罕见且侵袭性的膀胱神经内分泌肿瘤。虽然自 1981 年首例病例报告以来已经进行了研究,但我们对该疾病治疗的大部分理解都是从肺小细胞癌推断而来。然而,目前患者生存数据一直停滞不前。

观察结果

随着先进分子诊断方法的出现,人们对理解膀胱小细胞癌的起源和治疗有了新的认识。与肺小细胞癌的已发表研究相似,协作努力和可访问的基因组-表型数据库部分阐明了基因组景观。通过这些努力,已经确定了其他潜在的治疗领域,例如针对驱动突变、免疫疗法、干细胞调节和新型药物候选物。此外,新型生物标志物的鉴定和改进的影像学方法可能有助于我们更好地了解疾病的病程,包括诊断、分期、预后和对治疗的反应。这些早期发现得益于新型基于动物的模型。

结论和相关性

使用新方法了解治疗新方法的基因组景观,对膀胱小细胞癌的研究方向仍然是初步的。然而,这些研究正在成熟,并可能促进临床研究,有机会提高患有这种疾病的个体的生存率和健康相关生活质量。

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