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DICER1 mutation-positive giant botryoid fibroepithelial polyp of the urinary bladder mimicking embryonal

Markus Eckstein1, Abbas Agaimy1, Joachim Woenckhaus2

  • 1Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-University, Erlangen-Nuremberg.

Human Pathology
|June 9, 2018
PubMed

Insights

Fibroepithelial polyps of the urinary tract are rare. DICER1 gene mutations were found in a giant bladder polyp, suggesting a role in the condition's development.

Area of Science:

  • Oncology
  • Genetics
  • Urology

Background:

  • Fibroepithelial polyps (FEPs) are uncommon urinary tract lesions, primarily affecting children's upper urinary tracts.
  • Increased FEP prevalence is noted in families with pleuropulmonary blastoma, hinting at a genetic predisposition.

Observation:

  • A 46-year-old woman presented with a large, botryoid FEP in her urinary bladder.
  • Histopathology revealed a botryoid growth pattern with an embryonal rhabdomyosarcoma-like cambium layer, but without atypia.
  • Immunohistochemistry excluded rhabdomyoblastic differentiation.

Findings:

  • Next-generation sequencing identified two pathogenic mutations in the DICER1 ribonuclease III (DICER1) gene within the polyp.
  • These mutations, including a missense and a truncating variant, are consistent with DICER1-related lesions.

Implications:

  • This case implicates DICER1 gene mutations in the pathogenesis of urinary tract fibroepithelial polyps.
  • Understanding the genetic basis of FEPs can aid in diagnosis and risk assessment, particularly in familial cancer syndromes.

Keywords:
DICER1DICER1 syndromeEmbryonal rhabdomyosarcomaFibroepithelial polypsPleuropulmonary blastoma

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