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Adv Anat Pathol. 2013 Jul;20(4):245-63. doi: 10.1097/PAP.0b013e318299b7c6.

Hereditary syndromes with associated renal neoplasia: a practical guide to histologic recognition in renal tumor resection specimens.

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  • 1Department of Anatomic Pathology, Genitourinary Division, Robert J. Tomsich-Pathology and Laboratory Medicine Institute; and Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, OH, USA.

Abstract

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.

[PubMed - indexed for MEDLINE]
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