Kidney Cancer Syndrome Case Presentation: Radiology review, Surgical and Medical Management of HLRCC

The clinical course of a young woman with Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) including her initial presentation, imaging findings, and surgical management is reviewed in this grand rounds presentation.

HLRCC is the most common hereditary kidney cancer syndrome that affects individuals and families worlwide. The syndrome is characterized by uterine leiomyomas in women, skin leiomyomas and increased risk of kidney cancer.

This case presentation reviews the underlying pathophysiology of HLRCC (defective fumarate hydratase gene) and includes a detailed discussion of radiographic (MRI and CT) findings in patients with HLRCC. The presentation was delivered by NIH physicians who are experts in hereditary kidney cancer syndromes such as HLRCC, VHL, BHD and others.

Ashkan Malayeri, MD
Maria Merino, MD
Marston Linehan, MD
Mark Ball, MD