ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2022
DICER1-associated hepatic cystic neoplasm with pleuropulmonary blastoma-like features: a novel clinicopathologic diagnosis.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Rare solid tumours as indicators of hereditary cancer syndromes.European journal of human genetics : EJHG · 2026Review
- Pleuropulmonary blastoma and DICER1-related tumor predisposition: from clinicopathologic observations to clinical trial.Current opinion in pediatrics · 2025Review
- Rhabdomyosarcoma in children and young adults.Virchows Archiv : an international journal of pathology · 2025Review
- Type I and Ir pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry.Cancer · 2023Article
- The Histological Spectrum of DICER1-Associated Neoplasms.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyReview
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
This report documents a unique multicystic neoplasm of the liver in an 8-month-old boy with a heterozygous germline pathogenic DICER1 variant. This neoplasm, initially considered most likely a mesenchymal hamartoma based on imaging, demonstrated the characteristic histologic pattern of embryonal rhabdomyosarcoma residing in the subepithelial or cambium layer-like zone of the epithelial-lined cysts. Thus, although the differential diagnosis includes mesenchymal hamartoma, a young child with a multicystic mass lesion in the liver, lung, or kidney should both raise the possibility of a germline pathogenic DICER1 variant and also not be mistaken for one of the other hepatic neoplasms of childhood.
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Registered trials
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