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Pathology for Urologists

Kidney: Renal Tumors in Familial Syndromes


Image A
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Image B
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1. Von Hippel-Lindau Syndrome

  • Tumor type: clear cell RCC, and normal kidney parenchyma contains multiple small "clear cell RCC" tumorlets as minute nests and cysts (image A) & (image B).
  • Other manifestations: hemangioblastoma, pancreatic tumor or cyst, pheochromocytoma, endolymphatic sac tumors and epididymal cystadenoma.
  • Inheritance: autosomal dominant.
  • Gene: Chr 3p25-26 (VHL tumor suppressor gene).

2. Birt-Hogg-Dubé Syndrome

  • Tumor type: hybrid chromophobe RCC/renal oncocytoma with overlapping features of these 2 tumors (image C), chromophobe RCC, oncocytoma.
  • Other manifestations: cutaneous lesions (fibrofolliculomas, trichodiscoma, acrochordon) and pulmonary cysts (may have spontaneous hemothorax).
  • Inheritance: autosomal dominant with incomplete penetrance.
  • Gene: Chr 17p11.2 (BHD gene) encodes folliculin

3. Hereditary Papillary Renal Cell Carcinoma

  • Tumor type: papillary RCC type 1, multiple and bilateral.
  • Inheritance: autosomal dominant with incomplete penetrance.
  • Gene: Chr 7q31.1-34 (c-met oncogene)

Image C
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Image D
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4. Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

  • Tumor type: papillary RCC type 2 and collecting duct carcinoma (tumor cells characterized by large central nucleolus surrounded by halo or "CMV-like" inclusion) (image D).
  • Other manifestations: leiomyoma of skin and uterus.
  • Inheritance: autosomal dominant.
  • Gene: Chr 1q42.3-43 (fumarate hydratase gene).

5. Tuberous Sclerosis Syndrome

  • Tumor type: angiomyolipomas (PEComa).
  • Other manifestations: lymphangioleiomyomatosis of lung, sugar tumor of lung, pancreas and uterus, other PEComas, cardiac rhabdomyomas, subependymoas and giant cell astrocytomas and retinal hamartomas.
  • Inheritance: autosomal dominant.
  • Gene: Chr 9q34 (TSC1) and Chr 16p13.3 (TSC2) (tumor suppressor genes).

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