title: A case study of metastatic Xp11.2 translocation renal cell carcinoma effectively treated with sunitinib.
abstract: We report a case of Xp11.2 translocation renal cell carcinoma (RCC) whose lung metastases were effectively treated with sunitinib. A 43-year-old woman presenting with upper abdominal pain was diagnosed with a left renal tumor. Laparoscopic left radical nephrectomy was performed. Histopathological examination of the surgical specimen revealed a clear-cell carcinoma of the left kidney. Two years later, multiple lung metastases were detected and the patient was treated daily with 50 mg sunitinib. A computed tomography scan performed after 2 cycles of sunitinib treatment revealed partial regression of these metastases. The partial regression has been maintained for >3 years. In retrospective evaluation of the primary RCC, tumor cells showed strong nuclear staining for transcription factor E3 (TFE3) protein and TFE3 split-fluorescence in-situ hybridization revealed translocation involving the TFE3 gene. These findings strongly support diagnosis of Xp11.2 translocation RCC.
authors.affiliation: Department of Urology, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Numakura
authors.forename: Norihiko
authors.initials: N
authors.lastname: Tsuchiya
authors.forename: Takeshi
authors.initials: T
authors.lastname: Yuasa
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Saito
authors.forename: Takashi
authors.initials: T
authors.lastname: Obara
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsuruta
authors.forename: Shintaro
authors.initials: S
authors.lastname: Narita
authors.forename: Yohei
authors.initials: Y
authors.lastname: Horikawa
authors.forename: Shigeru
authors.initials: S
authors.lastname: Satoh
authors.forename: Tomonori
authors.initials: T
authors.lastname: Habuchi
mesh_terms: D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics / Q000378:metabolism; D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000235:genetics / Q000556:secondary; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D007211:Indoles / Q000008:administration & dosage / Q000627:therapeutic use*; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008175:Lung Neoplasms / Q000188:drug therapy* / Q000556:secondary*; D011758:Pyrroles / Q000008:administration & dosage / Q000627:therapeutic use*; D000077210:Sunitinib; D014178:Translocation, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D007211:Indoles; D011758:Pyrroles; C069203:TFE3 protein, human; D000077210:Sunitinib