FLCN gene-mutated renal cell neoplasms: mother and daughter cases with a novel germline mutation

Int J Urol. 2012 May;19(5):468-70. doi: 10.1111/j.1442-2042.2011.02945.x. Epub 2011 Dec 29.


Birt-Hogg-Dubé syndrome is a familial genodermatosis, of which patients frequently develop renal neoplasms, fibrofolliculomas and pneumatocele. Here, we report a mother and daughter with renal neoplasms surgically resected (69 and 46 years-of-age at surgery, respectively). The mother's tumor was diagnosed as an unclassified type renal cell carcinoma associated with microscopic tumorous nodules, whereas the daughter's tumor was a hybrid oncocytic/chromophobe tumor. The germline mutation analysis of the responsible gene, FCLN (the folliculin gene), showed a deletion of 18 bp in exon 5 (c.332_349del/p.H111_Q116del), predicting an alteration of the amino acid sequence of "HPSHPQ" replaced by a single amino acid, "L". This is a novel germline mutation of the FCLN gene that has not been previously reported.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Birt-Hogg-Dube Syndrome / genetics*
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Female
  • Germ-Line Mutation*
  • Humans
  • Kidney / pathology*
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Middle Aged
  • Mutation
  • Nuclear Family
  • Proto-Oncogene Proteins / genetics*
  • Tumor Suppressor Proteins / genetics*


  • FLCN protein, human
  • Proto-Oncogene Proteins
  • Tumor Suppressor Proteins