2012/07/01 by Gayun Chan–Smutko · 1 citation
Medicine · #Renal cell carcinoma treatment #Genetic factors in colorectal cancer #Multiple and Secondary Primary Cancers #Pheochromocytoma #Medicine #Genetic testing #Family history #Renal cell carcinoma #Genetic predisposition #Birt–Hogg–Dubé syndrome #Paraganglioma #Cancer #Pathology #Disease #Oncology #Internal medicine #Radiology
paper · doi:10.1097/ppo.0b013e31826246ac
openalex publication_date 2012/07/01 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/27
The roles of renal cell carcinoma (RCC) and urothelial cancers of the upper urinary tract are often overlooked as indicators for genetic risk assessment. The key features of 5 hereditary cancer susceptibility conditions involving an increased risk for RCC are discussed. von Hippel-Lindau disease, hereditary papillary RCC, and hereditary leiomyomatosis and RCC each predispose to a specific histological type of RCC, whereas Birt-Hogg-Dubé and hereditary paraganglioma/pheochromocytoma entail a variety of histologic findings. Familiarity with the rare or uncommon clinical features associated with these conditions, such as cutaneous neoplasms, paraganglioma/pheochromocytoma, and recurrent spontaneous pneumothoraces, aids in identifying patients with an underlying RCC susceptibility. A path to identifying syndromic cases lies in thorough investigation of the patient's medical history, their family history, and the histological type of RCC reported in the family. A guide to genetic predisposition testing for RCC is proposed. Upper urinary tract cancers in Lynch syndrome are also discussed.