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

Fibroepithelial polyps of the urinary tract are rare lesions. They occur mainly in the upper urinary tract of children. A high disease prevalence has been reported in families with pleuropulmonary blastoma. Here we present a case of a 46-year-old woman who presented with a giant botryoid fibroepithe...

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Bibliographic Details
Published in:Human pathology 2019-02, Vol.84, p.1-7
Main Authors: Eckstein, Markus, Agaimy, Abbas, Woenckhaus, Joachim, Winter, Alexander, Bittmann, Iris, Janzen, Joerg, Bertz, Simone, Haller, Florian, Hartmann, Arndt
Format: Article
Language:English
Subjects:
Adults
Age
Bladder
Breast cancer
Cancer therapies
Cloning
DICER1
DICER1 syndrome
Embryonal rhabdomyosarcoma
Fibroepithelial polyps
Genetic counseling
Genomics
Kinases
Mutation
Pathogenesis
Pleuropulmonary blastoma
Proteins
Rhabdomyosarcoma
Urogenital system
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Summary:Fibroepithelial polyps of the urinary tract are rare lesions. They occur mainly in the upper urinary tract of children. A high disease prevalence has been reported in families with pleuropulmonary blastoma. Here we present a case of a 46-year-old woman who presented with a giant botryoid fibroepithelial polyp of the urinary bladder. Histologically, the lesion showed prominent botryoid features with an embryonal rhabdomyosarcoma-like cambium layer lacking nuclear or cellular atypia. Immunohistochemical analysis ruled out rhabdomyoblastic differentiation. Next-generation sequencing was performed on the polyp tissue and revealed two pathogenic mutations in the DICER1 ribonuclease III (DICER1) gene (c.[5439G>T]; p.[Glu1813Asp] and c.[1525C>T]; p.[Arg509*]). Truncating DICER1 mutations, accompanied by characteristic “hotspot” mutations affecting the RNase IIIB domain of DICER1 are typically seen in DICER1-related lesions. Our findings indicate a role of DICER1 mutations in the pathogenesis of fibroepithelial polyps of the urinary tract. •Report on a botryoid fibroepithelial polyp of the bladder mimicking embryonal rhabdomyosarcoma.•Detailed histological and immunohistochemical characterization of the fibroepithelial polyp.•Review of reported histomorphological patterns of fibroepithelial polyps (bladder).•Identification of a novel DICER1 mutation found in pleuropulmonary blastoma families.•Potential role of DICER1 mutations as driver mutation of fibroepithelial lesions.
ISSN:0046-8177
1532-8392
DOI:10.1016/j.humpath.2018.05.015