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Hereditary Syndromes With Associated Renal Neoplasia: A Practical Guide to Histologic Recognition in Renal Tumor Resection Specimens

Przybycin, Christopher G. MD; Magi-Galluzzi, Cristina MD, PhD; McKenney, Jesse K. MD

Advances in Anatomic Pathology: July 2013 - Volume 20 - Issue 4 - p 245–263
doi: 10.1097/PAP.0b013e318299b7c6
Review Articles

Many hereditary tumor syndromes are associated with neoplasms of the kidney. It is becoming increasingly well recognized that a given familial tumor syndrome may be very heterogenous in clinical appearance and that unrecognized patients may present initially for the treatment of a renal mass. It is therefore important for surgical pathologists to be aware of the specific gross and microscopic findings in the kidney that suggest a possible syndromic association. In this review, we detail the histologic features of syndromic-associated renal neoplasms, describe the presence of characteristic changes in the background renal parenchyma, and provide an update on associated extrarenal manifestations for each of the following syndromes: von Hippel-Lindau disease, hereditary papillary renal cell carcinoma (RCC), hereditary leiomyomatosis-RCC, Birt-Hogg-Dubé syndrome, tuberous sclerosis complex, germline succinate dehydrogenase mutation, hereditary nonpolyposis colorectal cancer syndrome, hyperparathyroidism-jaw tumor syndrome, PTEN hamartoma syndrome, constitutional chromosome 3 translocation, and familial nonsyndromic clear cell RCC. We also include a synopsis of renal medullary carcinoma because of its association with hereditary hemoglobinopathies.

Department of Anatomic Pathology, Genitourinary Division, Robert J. Tomsich-Pathology and Laboratory Medicine Institute; and Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, OH

The authors have no funding or conflicts of interest to disclose.

Reprints: Jesse K. McKenney, MD, Department of Anatomic Pathology, Genitourinary Division, Robert Tomsich-Pathology and Laboratory Medicine Institute, Cleveland Clinic, 9500 Euclid Ave-L25, Cleveland, OH 44195 (e-mail: figures can be viewed online in color at

© 2013 by Lippincott Williams & Wilkins.