DICER1-associated hepatic cystic neoplasm with pleuropulmonary blastoma-like features: a novel clinicopathologic diagnosis

Sarah G. Mitchell, Kris Ann P. Schultz, Heather Rytting, Nicolas Kostelecky, D. Ashley Hill, Louis P. Dehner

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)676-679
Number of pages4
JournalModern Pathology
Volume35
Issue number5
DOIs
StatePublished - May 2022

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