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

作者：Przybycin Christopher G; Magi Galluzzi Cristina; McKenney Jesse K^*

来源：Advances in Anatomic Pathology, 2013, 20(4): 245-263.

DOI：10.1097/PAP.0b013e318299b7c6

• renal cell carcinoma
• hereditary
• familial
• von Hippel-Lindau
• tuberous sclerosis
• SDH
• leiomyomatosis
• Birt-Hogg-Dube

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-Dube 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.

• 出版日期2013-7