Pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

Wayan Winarti Ni Wayan Winarti, Pedram Argani, Angelo Michael Demarzo, Jessica Hicks, Ketut Mulyadi

Research output: Contribution to journalArticle

Abstract

Renal cell carcinoma (RCC) in children and young adults is rare and pathologically problematic. RCC can be either hereditary or sporadic and has a guarded prognosis because appropriate management has not been established. A case of RCC in an 11-year-old is reported. The clinical presentation was a right abdominal mass, hematuria, urinary tract infection, and wasting. Radio-logically, the mass was found within the right kidney with calcification and paraaortic lymphadenopathy. The postsurgical diagnosis was Wilms' tumor stage T4N2M0. On gross inspection, the tumor was ill defined, extending across Gerota's fascia and into the ureter lumina. Microscopically, the tumor consisted of malignant epithelial cells with clear and eosinophilic cytoplasm in nested, papillary, and alveolar configuration. Hyaline nodules, psammoma bodies, vascular invasion, capsular invasion, and extension into the ureter were also found. Immunohistochemically, the cells showed strong nuclear immunoreactivity for TFE3. We concluded that this case was an RCC associated with Xp11.2 translocation/TFE3 fusion, Fuhrman grade 3, stage IV.

Original languageEnglish (US)
Pages (from-to)66-72
Number of pages7
JournalInternational Journal of Surgical Pathology
Volume16
Issue number1
DOIs
StatePublished - Jan 2008

Fingerprint

Gene Fusion
Renal Cell Carcinoma
Pediatrics
Ureter
Hyalin
Wilms Tumor
Fascia
Hematuria
Radio
Urinary Tract Infections
Blood Vessels
Young Adult
Neoplasms
Cytoplasm
Epithelial Cells
Kidney

Keywords

  • Immunohistochemistry
  • Morphology
  • Xp11 translocation carcinoma

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery

Cite this

Pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. / Ni Wayan Winarti, Wayan Winarti; Argani, Pedram; Demarzo, Angelo Michael; Hicks, Jessica; Mulyadi, Ketut.

In: International Journal of Surgical Pathology, Vol. 16, No. 1, 01.2008, p. 66-72.

Research output: Contribution to journalArticle

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