The Molecular Classification of Pheochromocytomas and Paragangliomas: Discovering the Genomic and Immune Landscape of Metastatic Disease.

IF 11.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Carolijn J M de Bresser, Ronald R de Krijger
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引用次数: 0

Abstract

Pheochromocytomas (PCCs) and paragangliomas (PGLs, together PPGLs) are the most hereditary tumors known. PPGLs were considered benign, but the fourth edition of the World Health Organisation (WHO) classification redefined all PPGLs as malignant neoplasms with variable metastatic potential. The metastatic rate differs based on histopathology, genetic background, size, and location of the tumor. The challenge in predicting metastatic disease lies in the absence of a clear genotype-phenotype correlation among the more than 20 identified genetic driver variants. Recent advances in molecular clustering based on underlying genetic alterations have paved the way for improved cluster-specific personalized treatments. However, despite some clusters demonstrating a higher propensity for metastatic disease, cluster-specific therapies have not yet been widely adopted in clinical practice. Comprehensive genomic profiling and transcriptomic analyses of large PPGL cohorts have identified potential new biomarkers that may influence metastatic potential. It appears that no single biomarker alone can reliably predict metastatic risk; instead, a combination of these biomarkers may be necessary to develop an effective prediction model for metastatic disease. This review evaluates current guidelines and recent genomic and transcriptomic findings, with the aim of accurately identifying novel biomarkers that could contribute to a predictive model for mPPGLs, thereby enhancing patient care and outcomes.

嗜铬细胞瘤和副神经节瘤的分子分类:发现转移性疾病的基因组和免疫图谱
嗜铬细胞瘤(PCCs)和副神经节瘤(PGLs,合称 PPGLs)是已知遗传性最强的肿瘤。PPGL 曾被认为是良性肿瘤,但世界卫生组织(WHO)第四版分类将所有 PPGL 重新定义为具有不同转移潜力的恶性肿瘤。转移率因组织病理学、遗传背景、肿瘤大小和位置而异。预测转移性疾病的挑战在于,在已确定的 20 多种遗传驱动变异中,缺乏明确的基因型与表型之间的相关性。基于潜在基因变异的分子聚类的最新进展为改进聚类特异性个性化治疗铺平了道路。然而,尽管一些聚类显示出更高的转移性疾病倾向,但聚类特异性疗法尚未在临床实践中广泛采用。对大型 PPGL 群体进行的全面基因组剖析和转录组分析发现了可能影响转移潜力的潜在新生物标志物。似乎没有一种生物标志物能单独可靠地预测转移风险;相反,可能需要将这些生物标志物结合起来,才能建立有效的转移性疾病预测模型。本综述评估了当前的指南以及最新的基因组和转录组研究结果,目的是准确识别有助于建立 mPPGLs 预测模型的新型生物标志物,从而改善患者护理和治疗效果。
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来源期刊
Endocrine Pathology
Endocrine Pathology 医学-病理学
CiteScore
12.30
自引率
20.50%
发文量
41
审稿时长
>12 weeks
期刊介绍: Endocrine Pathology publishes original articles on clinical and basic aspects of endocrine disorders. Work with animals or in vitro techniques is acceptable if it is relevant to human normal or abnormal endocrinology. Manuscripts will be considered for publication in the form of original articles, case reports, clinical case presentations, reviews, and descriptions of techniques. Submission of a paper implies that it reports unpublished work, except in abstract form, and is not being submitted simultaneously to another publication. Accepted manuscripts become the sole property of Endocrine Pathology and may not be published elsewhere without written consent from the publisher. All articles are subject to review by experienced referees. The Editors and Editorial Board judge manuscripts suitable for publication, and decisions by the Editors are final.
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