title: Hereditary syndromes with associated renal neoplasia: a practical guide to histologic recognition in renal tumor resection specimens.
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.
authors.affiliation: Department of Anatomic Pathology, Genitourinary Division, Robert J. Tomsich-Pathology and Laboratory Medicine Institute; and Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, OH, USA.
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Przybycin
authors.forename: Cristina
authors.initials: C
authors.lastname: Magi-Galluzzi
authors.forename: Jesse K
authors.initials: JK
authors.lastname: McKenney
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D001706:Biopsy; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007150:Immunohistochemistry; D007680:Kidney Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology* / Q000601:surgery*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000601:surgery*; D009392:Nephrectomy; D010340:Pathology, Surgical / Q000379:methods*; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis
chemical_list: D014408:Biomarkers, Tumor