ReviewFumarate Hydratase–Deficient Renal Cell Carcinoma: A ReviewChen, Diane A. MD; Virk, Renu K. MDAuthor Information From the Columbia University Medical Center, New York, NY. Reprints: Renu Virk, MD, 630 W 168th St VC14, New York, NY 10032. E-mail: [email protected]. The authors have no funding or conflicts to declare. AJSP: Reviews & Reports: 11/12 2020 - Volume 25 - Issue 6 - p 280-283 doi: 10.1097/PCR.0000000000000394 Buy Metrics Abstract Fumarate hydratase (FH)–deficient renal cell carcinoma (RCC) has emerged in recent years as a subtype of renal tumors that show diverse morphologic patterns with predominance of papillary architecture. Most of these tumors show high-grade cytologic features and at least focally prominent eosinophilic macronucleoli with perinuclear halos. Infrequently, these tumors show low-grade oncocytic cytologic features. Fumarate hydratase–deficient RCCs are characterized by inactivating FH gene mutations resulting in FH loss and 2-succinocysteine [2SC] accumulation, demonstrable by immunohistochemistry. A vast majority of these tumors occur in the setting of hereditary leiomyomatosis and RCC syndrome. Fumarate hydratase–deficient RCCs show slight male preponderance and present at relatively younger age. These tumors are often locally advanced at the time of presentation. Prospective recognition of these tumors upon histologic examination is of paramount importance not only for the appropriate management of the patient but also for a potential to detect undiagnosed hereditary leiomyomatosis and RCC syndrome in at-risk family members. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.