Servicio de Radiodiagnóstico, Complejo Asistencial de Ávila, Ávila, Spain.
Servicio de Radiodiagnóstico, Complejo Asistencial de Salamanca, Salamanca, Spain.
Radiologia (Engl Ed). 2024 Mar-Apr;66(2):132-154. doi: 10.1016/j.rxeng.2024.03.001. Epub 2024 Mar 23.
80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of "sporadic" multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11.2 translocation/TFE3 fusion, Sickle cell trait, DICER1 mutation, Hereditary hyperparathyroidism and jaw tumor, as well as the main syndromes of Wilms tumor predisposition. The concept of "non-hereditary" familial RC and other malignant and benign entities that can present as multiple renal lesions are discussed.
80%的肾细胞癌(RC)是通过影像学偶然诊断出来的。2-4%的“散发性”多灶性和 5-8%的遗传性综合征被认为是多灶性的,可能存在低估。多灶性、年龄较小、家族史、综合征数据和某些组织学特征提示遗传性综合征的可能性。每个肿瘤都必须单独进行研究,并对患者进行多学科评估。建议采用保肾治疗策略和放射性保护诊断方法。介绍了主要 RC 遗传性综合征中放射科医生的相关数据:von Hippel-Lindau、染色体 3 易位、BRCA 相关蛋白 1 突变、与琥珀酸脱氢酶缺乏相关的 RC、PTEN、遗传性乳头状 RC、甲状腺乳头状癌-乳头状 RC、遗传性平滑肌瘤和 RC、Birt-Hogg-Dubé、结节性硬化症、Lynch、Xp11.2 易位/TFE3 融合、镰状细胞特征、DICER1 突变、遗传性甲状旁腺功能亢进和颌骨肿瘤,以及 Wilms 肿瘤易感性的主要综合征。还讨论了“非遗传性”家族性 RC 以及其他可能表现为多个肾脏病变的恶性和良性实体的概念。