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

Authors

Sarah G. Mitchell, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA.
Kris Ann Schultz, International Pleuropulmonary Blastoma/DICER1 Registry, Minneapolis, MN, USA. KrisAnn.Schultz@childrensmn.org.
Heather Rytting, Department of Pathology, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA.
Nicolas Kostelecky, The Lauren V. Ackerman Laboratory of Surgical Pathology, Barnes-Jewish and St. Louis Children's Hospitals, Washington University Medical Center, St. Louis, MO, USA.
D Ashley Hill, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA.
Louis P. Dehner, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA.

Document Type

Journal Article

Publication Date

5-1-2022

Journal

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

Volume

35

Issue

5

DOI

10.1038/s41379-021-00947-y

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.

APA Citation

Mitchell, Sarah G.; Schultz, Kris Ann; Rytting, Heather; Kostelecky, Nicolas; Hill, D Ashley; and Dehner, Louis P., "DICER1-associated hepatic cystic neoplasm with pleuropulmonary blastoma-like features: a novel clinicopathologic diagnosis" (2022). GW Authored Works. Paper 1040.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/1040

Department

Pediatrics