Expanding the spectrum of renal tumors in children: Primary renal myoepithelial carcinomas with a novel EWSR1-KLF15 fusion

Mariana M. Cajaiba*, Lawrence J Jennings, Stephen M. Rohan, Katrin Carlson, Miran R. Anagnost, James B. Fahner, Barbara K. Fulton, James I. Geller, Elizabeth J Perlman

*Corresponding author for this work

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We report the first 2 examples of primary renal myoepithelial carcinoma (MEC), both occurring in children. Both tumors had the unique morphologic features, immunophenotype, and EWSR1 gene rearrangements supporting the diagnosis. In keeping with the previous observations of an aggressive behavior in pediatric MEC, both cases presented with advanced local stage and distant metastases at the time of diagnosis. The EWSR1 translocation partner was identified as the Kruppel-like factor 15 (KLF15) gene in both tumors, and the novel EWSR1-KLF15 gene fusion transcripts were verified using reverse transcription polymerase chain reaction and Sanger dideoxy sequencing. So far, a role for KLF15 in carcinogenesis has not been established, in contrast to other members of the Kruppel-like family of transcription factors, and no rearrangements involving this gene have been documented to our knowledge. These findings expand the spectrum of pediatric renal tumors to include MEC. The characterization of novel EWSR1-KLF15 fusion transcripts carries important diagnostic implications, as well as clues to understand the pathogenesis of these neoplasms.

Original languageEnglish (US)
Pages (from-to)386-394
Number of pages9
JournalAmerican Journal of Surgical Pathology
Volume40
Issue number3
DOIs
StatePublished - Jan 1 2016

Fingerprint

Kruppel-Like Transcription Factors
Carcinoma
Kidney
Gene Rearrangement
Neoplasms
Pediatrics
Gene Fusion
Reverse Transcription
Carcinogenesis
Neoplasm Metastasis
Polymerase Chain Reaction
Genes

Keywords

  • EWSR1
  • KLF15
  • Kruppel-like factor
  • Myoepithelial carcinoma
  • Pediatric renal tumor

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

Cite this

Cajaiba, Mariana M. ; Jennings, Lawrence J ; Rohan, Stephen M. ; Carlson, Katrin ; Anagnost, Miran R. ; Fahner, James B. ; Fulton, Barbara K. ; Geller, James I. ; Perlman, Elizabeth J. / Expanding the spectrum of renal tumors in children : Primary renal myoepithelial carcinomas with a novel EWSR1-KLF15 fusion. In: American Journal of Surgical Pathology. 2016 ; Vol. 40, No. 3. pp. 386-394.
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Expanding the spectrum of renal tumors in children : Primary renal myoepithelial carcinomas with a novel EWSR1-KLF15 fusion. / Cajaiba, Mariana M.; Jennings, Lawrence J; Rohan, Stephen M.; Carlson, Katrin; Anagnost, Miran R.; Fahner, James B.; Fulton, Barbara K.; Geller, James I.; Perlman, Elizabeth J.

In: American Journal of Surgical Pathology, Vol. 40, No. 3, 01.01.2016, p. 386-394.

Research output: Contribution to journalArticle

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