Immunochemistry

 CD117+ (c-kit) (88%) (#15105658#)

Variants

 chromophobe renal cell carcinoma with sarcomatoid transformation (#14571432#)

Predisposition

 Birt-Hogg-Dube syndrome (MIM.135150)

• germline FLCN gene mutations

Molecular biology

 somatic mutation of the FLCN gene (1732delTCinsAC) in chromophobe renal carcinoma in a patient with Birt-Hogg-Dube syndrome (MIM.135150)

 biallelic TCF2 (HNF1beta) inactivation in chromophobe renal cell carcinoma (#15649945#)

References

 Rebouissou S, Vasiliu V, Thomas C, Bellanne-Chantelot C, Bui H, Chretien Y, Timsit J, Rosty C, Laurent-Puig P, Chauveau D, Zucman-Rossi J. Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. Hum Mol Genet. 2005 Mar 1;14(5):603-14. PMID: #15649945#