TY - JOUR
T1 - DICER1-associated hepatic cystic neoplasm with pleuropulmonary blastoma-like features
T2 - a novel clinicopathologic diagnosis
AU - Mitchell, Sarah G.
AU - Schultz, Kris Ann P.
AU - Rytting, Heather
AU - Kostelecky, Nicolas
AU - Hill, D. Ashley
AU - Dehner, Louis P.
N1 - Publisher Copyright:
© 2021, The Author(s), under exclusive licence to United States & Canadian Academy of Pathology.
PY - 2022/5
Y1 - 2022/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85121323384&partnerID=8YFLogxK
U2 - 10.1038/s41379-021-00947-y
DO - 10.1038/s41379-021-00947-y
M3 - Article
C2 - 34907324
AN - SCOPUS:85121323384
SN - 0893-3952
VL - 35
SP - 676
EP - 679
JO - Modern Pathology
JF - Modern Pathology
IS - 5
ER -