Multiple and hereditary renal tumors: a review for radiologists

Radiologia (Engl Ed). 2024 Mar-Apr;66(2):132-154. doi: 10.1016/j.rxeng.2024.03.001. Epub 2024 Mar 23.ABSTRACT80% 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.PMID:38614530 | DOI:10.1016/j.rxeng.2024.03.001

Source: Radiologia - April 13, 2024 Category: Radiology Authors: M Á Corral de la Calle J Encinas de la Iglesia G C Fern ández Pérez A Fraino M Repoll és Cobaleda Source Type: research