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

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

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.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics
  • Biopsy
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Immunohistochemistry
  • Kidney Neoplasms / chemistry
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology*
  • Kidney Neoplasms / surgery*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / metabolism
  • Neoplastic Syndromes, Hereditary / pathology*
  • Neoplastic Syndromes, Hereditary / surgery*
  • Nephrectomy*
  • Pathology, Surgical / methods*
  • Phenotype
  • Predictive Value of Tests
  • Prognosis

Substances

  • Biomarkers, Tumor