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嗜铬细胞瘤和副神经节瘤的诊断:韩国嗜铬细胞瘤和副神经节瘤工作组的联合立场声明。

Diagnosis for Pheochromocytoma and Paraganglioma: A Joint Position Statement of the Korean Pheochromocytoma and Paraganglioma Task Force.

机构信息

Department of Internal Medicine, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, Korea.

Department of Internal Medicine, Severance Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea.

出版信息

Endocrinol Metab (Seoul). 2021 Apr;36(2):322-338. doi: 10.3803/EnM.2020.908. Epub 2021 Apr 6.

Abstract

Pheochromocytoma and paraganglioma (PPGLs) are rare catecholamine-secreting neuroendocrine tumors but can be life-threatening. Although most PPGLs are benign, approximately 10% have metastatic potential. Approximately 40% cases are reported as harboring germline mutations. Therefore, timely and accurate diagnosis of PPGLs is crucial. For more than 130 years, clinical, molecular, biochemical, radiological, and pathological investigations have been rapidly advanced in the field of PPGLs. However, performing diagnostic studies to localize lesions and detect metastatic potential can be still challenging and complicated. Furthermore, great progress on genetics has shifted the paradigm of genetic testing of PPGLs. The Korean PPGL task force team consisting of the Korean Endocrine Society, the Korean Surgical Society, the Korean Society of Nuclear Medicine, the Korean Society of Pathologists, and the Korean Society of Laboratory Medicine has developed this position statement focusing on the comprehensive and updated diagnosis for PPGLs.

摘要

嗜铬细胞瘤和副神经节瘤(PPGL)是罕见的儿茶酚胺分泌性神经内分泌肿瘤,但可能危及生命。尽管大多数 PPGL 是良性的,但约有 10%具有转移潜能。约 40%的病例报告存在种系突变。因此,及时准确地诊断 PPGL 至关重要。130 多年来,PPGL 领域的临床、分子、生化、放射和病理研究迅速推进。然而,进行定位病变和检测转移潜能的诊断研究仍然具有挑战性和复杂性。此外,遗传学的巨大进展改变了 PPGL 基因检测的模式。由韩国内分泌学会、韩国外科学会、韩国核医学会、韩国病理学会和韩国临床病理学会组成的韩国 PPGL 工作组制定了本立场声明,重点关注 PPGL 的全面和最新诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae2d/8090459/c69bdb7b226e/enm-2020-908f1.jpg

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