Pediatric renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions and clinicopathologic associations

G. Altinok, M. M. Kattar, A. Mohamed, J. Poulik, David Grignon, R. Rabah

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

Renal cell carcinomas (RCCs) are rare in children and studies of their subtypes and clinicopathologic associations are limited to small series. We identified 8 patients with RCC treated at our institution between 1981 and 2003, reviewed their clinicopathologic features, cytogenetics findings, and evaluated the status of TFE3 expression by immunohistochemistry and numerical chromosomal alterations by interphase fluorescent in situ hybridization on paraffin-embedded tissue. These 8 patients (5 female and 3 male) had diploidy, and 5 had morphologic features compatible with the recently described RCC associated with Xp11.2 translocations/TFE3 gene fusions and demonstrated nuclear labeling for TFE3 protein by immunohistochemistry. The translocation was confirmed in 2 of these 5 patients by conventional cytogenetics. One case was a high-grade nonpapillary RCC and the other was compatible with type 2 papillary RCC. Four patients showed at least 1 chromosomal gain including trisomy 7 and/or trisomy 17. None of the tumors from male patients showed evidence of loss of the Y chromosome, but 2 patients showed numerical abnormalities of X chromosome +add(X). Two patients had sickle cell disease, and 1 of these also had stage IV-S neuroblastoma. This study suggests that many cases of RCC in children reported under the terms "papillary" and "clear cell" likely represent Xp11.2 translocation/TFE3 gene fusion-associated RCC. It also emphasizes the unusual associations of RCC with neuroblastoma and sickle cell hemoglobinopathy, which need further study.

Original languageEnglish (US)
Pages (from-to)168-180
Number of pages13
JournalPediatric and Developmental Pathology
Volume8
Issue number2
DOIs
StatePublished - Apr 2005
Externally publishedYes

Fingerprint

Gene Fusion
Renal Cell Carcinoma
Pediatrics
Carcinoma
Kidney
Neuroblastoma
Cytogenetics
Immunohistochemistry
Hemoglobinopathies
Chromosomes, Human, Pair 2
Y Chromosome
Trisomy
Interphase
Sickle Cell Anemia
X Chromosome
Diploidy
Fluorescence In Situ Hybridization
Paraffin

Keywords

  • Chemotherapy
  • Neuroblastoma
  • Pediatric renal cell carcinoma
  • Radiation
  • Sickle cell
  • TFE3

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

Cite this

Pediatric renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions and clinicopathologic associations. / Altinok, G.; Kattar, M. M.; Mohamed, A.; Poulik, J.; Grignon, David; Rabah, R.

In: Pediatric and Developmental Pathology, Vol. 8, No. 2, 04.2005, p. 168-180.

Research output: Contribution to journalArticle

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