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遗传性嗜铬细胞瘤/副神经节瘤综合征患儿的肿瘤监测最新进展

Update on Tumor Surveillance for Children with Hereditary Pheochromocytoma/Paraganglioma Syndromes.

作者信息

Rednam Surya P, Kamihara Junne, Becktell Kerri D, Brodeur Garrett M, States Lisa J, Voss Stephan D, Villani Anita, Zelley Kristin, Malkin David, Nakano Yoshiko, Doria Andrea S, Widjaja Elysa, Pajtler Kristian W, Schneider Kami Wolfe, Achatz Maria Isabel, Diller Lisa R, Gallinger Bailey, Tamura Chieko, Wasserman Jonathan D

机构信息

Division of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts.

出版信息

Clin Cancer Res. 2025 Aug 14;31(16):3368-3376. doi: 10.1158/1078-0432.CCR-24-4354.

Abstract

Hereditary pheochromocytoma/paraganglioma syndromes (HPPS) are a collection of conditions caused by variants in genes producing subunits of the succinate dehydrogenase (SDH) complex or related proteins. These conditions are characterized by substantial lifetime risks for developing pheochromocytomas, paragangliomas, and other tumors. Affected individuals who develop these tumors may experience severe, acute, and chronic problems. Indeed, aggressive, malignant, and/or disseminated tumors may result in death. Tumor surveillance enables early intervention, which, in turn, should lead to improved clinical outcomes. However, the desire for intensive surveillance strategies must be balanced against medical and psychosocial risks. In 2017, consensus HPPS surveillance recommendations addressing germline predisposition to SDHA-, SDHAF2-, SDHB-, SDHC-, SDHD-, MAX-, and TMEM127 (collectively, SDHx+)-related tumors were published after the inaugural American Association for Cancer Research Childhood Cancer Predisposition Workshop. Based on the limited available clinical data at that time, these recommendations advocated a uniform approach to tumor surveillance in HPPS. Since then, several other groups have proposed alternative consensus surveillance guidelines. Although these surveillance approaches share some common elements, including recommendations tailored to emerging differences in tumor phenotype based on underlying specific SDHx+ genes, these approaches also vary significantly among each other. As clinical data continue to accrue, it is critical that surveillance strategies continue to be refined to address emerging genotype-phenotype differences. In this review, we provide a brief up-to-date clinical overview of HPPS and describe recently proposed tumor surveillance regimens. We then detail our updated consensus pediatric-focused tumor surveillance recommendations from the 2023 American Association for Cancer Research Childhood Cancer Predisposition Workshop.

摘要

遗传性嗜铬细胞瘤/副神经节瘤综合征(HPPS)是由产生琥珀酸脱氢酶(SDH)复合体亚基或相关蛋白的基因变异引起的一组病症。这些病症的特点是终生患嗜铬细胞瘤、副神经节瘤及其他肿瘤的风险很高。罹患这些肿瘤的患者可能会经历严重的急性和慢性问题。事实上,侵袭性、恶性和/或播散性肿瘤可能会导致死亡。肿瘤监测有助于早期干预,进而改善临床结局。然而,强化监测策略的需求必须与医疗和心理社会风险相权衡。2017年,在美国癌症研究协会儿童癌症易感性研讨会首次召开后,发布了针对SDHA、SDHAF2、SDHB、SDHC、SDHD、MAX和TMEM127(统称为SDHx +)相关肿瘤的种系易感性的HPPS监测共识建议。基于当时有限的可用临床数据,这些建议提倡对HPPS采用统一的肿瘤监测方法。自那时以来,其他几个小组也提出了替代性的共识监测指南。尽管这些监测方法有一些共同要素,包括根据潜在的特定SDHx +基因对肿瘤表型新出现的差异制定的建议,但这些方法彼此之间也存在显著差异。随着临床数据不断积累,至关重要的是,监测策略要持续完善,以应对新出现的基因型-表型差异。在本综述中,我们简要介绍了HPPS的最新临床概况,并描述了最近提出的肿瘤监测方案。然后,我们详细阐述了2023年美国癌症研究协会儿童癌症易感性研讨会更新后的以儿科为重点的肿瘤监测共识建议。

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