Chromophobe type renal cell carcinoma

Chromophobe type renal cell carcinoma 

Updated: 10/07/2020

© Jun Wang, MD, PhD

General features
  • Usually > 45, no gender preference
  • Originated from intercalated cell of cortical collecting duct
  • May be associated with Birt-Hogg-Dubé syndrome
  • 8% multifocal, 3% bilateral
  • Less aggressive comparing with clear cell type
Birt-Hogg-Dubé syndrome
  • Autosomal dominant with incomplete penetrance
  • Germline mutations in BHD
  • Skin lesions: fibrofolliculomas, trichodiscomas, acrochordons
  • Lung: cysts, bullous emphysema, spontaneous pneumothorax
  • Renal tumors: Oncocytoma, chromophobe type renal cell carcinoma, and hybrid oncocytic-chromophobe tumors with areas of clear cells
Pathological features
Markers
Genetic abnormality
  • Multiple losses of various chromosome
  • P53 and PTEN
  • If associated with Birt-Hogg-Dubé syndrome: BHD, encoding folliculin

Differential diagnosis
  • Oncocytoma: No perinuclear halo, scattered weak CK7 reactivity, negative colloidal iron



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