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 - Funding Information:
We wish to thank the many treating physicians, genetic counselors, patients, and families who collaboratively support the International PPB/DICER1 Registry and the Pine Tree Apple Classic Fund whose volunteers, tennis players, and donors have provided more than 30 years of continuous support for PPB and DICER1 research. Specifically, this work was supported by the Pine Tree Apple Tennis Classic Fund. The International PPB/DICER1 Registry is also supported by the Children’s Minnesota Foundation and Rein in Sarcoma. K.A.S., D.A.H. and P.M. also receive support from NIH/NCI 1R37CA244940.
Funding Information:
We wish to thank the many treating physicians, genetic counselors, patients, and families who collaboratively support the International PPB/DICER1 Registry and the Pine Tree Apple Classic Fund whose volunteers, tennis players, and donors have provided more than 30 years of continuous support for PPB and DICER1 research. Specifically, this work was supported by the Pine Tree Apple Tennis Classic Fund. The International PPB/DICER1 Registry is also supported by the Children?s Minnesota Foundation and Rein in Sarcoma. K.A.S., D.A.H. and P.M. also receive support from NIH/NCI 1R37CA244940.
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 -