[A Case of Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dubé Syndrome]

Hinyokika Kiyo. 2018 Mar;64(3):107-110. doi: 10.14989/ActaUrolJap_64_3_107.
[Article in Japanese]

Abstract

A 61-year-old man with a left renal mass, which was detected by ultrasound during a routine health examination, was referred to our department. The patient had a surgical history of two pneumothorax operations, and the patient's brother also had a history of pneumothorax surgery. A case of Birt-Hogg-Dubé (BHD) syndrome was suspected based on patient history. The pathological diagnosis of the resected tumor, which used robot-assisted laparoscopic partial nephrectomy, was determined to be chromophobe renal cell carcinoma (grade 2, pT1a). BHD syndrome was confirmed by genetic testing, where a nonsense mutation of exon 9 in the FOLLICULIN (FLCN) gene was detected. The patient is currently alive 10 months after surgery.

Publication types

  • Case Reports

MeSH terms

  • Birt-Hogg-Dube Syndrome / complications*
  • Carcinoma, Renal Cell / etiology*
  • Carcinoma, Renal Cell / surgery
  • Humans
  • Kidney Neoplasms / etiology*
  • Kidney Neoplasms / pathology
  • Kidney Neoplasms / surgery
  • Male
  • Middle Aged
  • Nephrectomy