Faculty Collaboration Database

Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation. Mod Pathol 2020 Oct;33(10):1922-1929

Date

05/18/2020

Pubmed ID

32415267

Pubmed Central ID

PMC7529703

DOI

10.1038/s41379-020-0558-4

Scopus ID

2-s2.0-85084749263 (requires institutional sign-in at Scopus site)   31 Citations

Abstract

Since the original description of pathogenic germline DICER1 variation underlying pleuropulmonary blastoma (PPB), the spectrum of extrapulmonary neoplasms known to be associated with DICER1 has continued to expand and now includes tumors of the ovary, thyroid, kidney, eye, and brain among other sites. This report documents our experience with another manifestation: a primitive sarcoma that resembles PPB and DICER1-associated sarcoma of the kidney. These tumors are distinguished by their unusual location in the peritoneal cavity, associated with visceral and/or parietal mesothelium. A total of seven cases were identified through pathology review in children presenting at a median age of 13 years (range 3-14 years). Primary sites of origin included the fallopian tube (four cases), serosal surface of the colon (one case), and pelvic sidewall (two cases). One case had pathologic features of type I PPB, another type Ir (regressed) PPB, and the remaining five had features of type II or III PPB with a mixed primitive sarcomatous pattern with or without cystic elements. All had a pathogenic DICER1 variation identified in germline and/or tumor DNA. PPB-like peritoneal tumors represent a newly described manifestation of DICER1 pathogenic variation whose pathologic features are also recapitulated in DICER1-related renal sarcoma, cervical embryonal rhabdomyosarcoma, and some Sertoli-Leydig cell tumors with heterologous elements. Tumors arising from the fallopian tube or elsewhere in the abdomen/pelvis, especially those with heterogeneous rhabdomyosarcomatous and/or cartilaginous differentiation, should prompt consideration of germline and tumor DICER1 testing.

Author List

Schultz KAP, Nelson A, Harris AK, Finch M, Field A, Jarzembowski JA, Wilhelm M, Mize W, Kreiger P, Conard K, Walter A, Olson T, Mitchell S, Runco DV, Bechtel A, Klawinski D, Bradfield S, Gettinger K, Stewart DR, Messinger Y, Dehner LP, Ashley Hill D

Author

Jason A. Jarzembowski MD, PhD Sr Associate Dean, CEO CSG, Professor in the Pathology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adolescent
Child
Child, Preschool
DEAD-box RNA Helicases
Female
Humans
Male
Mutation
Peritoneal Neoplasms
Pulmonary Blastoma
Ribonuclease III
Sarcoma