Genetic testing by cancer site: urinary tract

Area of Science:

• Oncology
• Genetics
• Urology

Background:

• Renal cell carcinoma (RCC) and upper tract urothelial cancers are often overlooked in genetic risk assessments.
• Hereditary cancer syndromes significantly increase susceptibility to these malignancies.
• Recognizing specific syndromic features is key for early identification.

Purpose of the Study:

• To discuss key features of five hereditary cancer susceptibility conditions associated with increased RCC risk.
• To emphasize the importance of clinical features, medical history, and family history in identifying at-risk individuals.
• To propose a pathway for genetic predisposition testing for RCC and discuss upper tract urothelial cancers in Lynch syndrome.

Main Methods:

• Review of key features of five hereditary cancer susceptibility conditions predisposing to RCC.
• Discussion of specific histological types of RCC associated with distinct genetic syndromes.
• Emphasis on clinical manifestations like cutaneous neoplasms, paraganglioma/pheochromocytoma, and pneumothoraces.

Main Results:

• Five hereditary conditions (von Hippel-Lindau disease, hereditary papillary RCC, hereditary leiomyomatosis and RCC, Birt-Hogg-Dubé, hereditary paraganglioma/pheochromocytoma) are linked to specific RCC types or varied histologic findings.
• Uncommon clinical features aid in identifying patients with underlying RCC susceptibility.
• Thorough patient and family history, along with RCC histology, are vital for identifying syndromic cases.

Conclusions:

• Recognizing specific hereditary cancer syndromes is essential for accurate genetic risk assessment in RCC and upper tract urothelial cancers.
• A systematic approach involving clinical features and family history facilitates the identification of at-risk individuals.
• Genetic predisposition testing can guide management and surveillance strategies for affected families.