TY - JOUR
T1 - Pleuropulmonary blastoma-like peritoneal sarcoma
T2 - a newly described malignancy associated with biallelic DICER1 pathogenic variation
AU - Schultz, Kris Ann P.
AU - Nelson, Alexander
AU - Harris, Anne K.
AU - Finch, Mike
AU - Field, Amanda
AU - Jarzembowski, Jason A.
AU - Wilhelm, Mercedes
AU - Mize, William
AU - Kreiger, Portia
AU - Conard, Katrina
AU - Walter, Andrew
AU - Olson, Thomas
AU - Mitchell, Sarah
AU - Runco, Daniel V.
AU - Bechtel, Allison
AU - Klawinski, Darren
AU - Bradfield, Scott
AU - Gettinger, Katie
AU - Stewart, Douglas R.
AU - Messinger, Yoav
AU - Dehner, Louis P.
AU - Ashley Hill, D.
N1 - Publisher Copyright:
© 2020, The Author(s), under exclusive licence to United States & Canadian Academy of Pathology.
PY - 2020/10/1
Y1 - 2020/10/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85084749263&partnerID=8YFLogxK
U2 - 10.1038/s41379-020-0558-4
DO - 10.1038/s41379-020-0558-4
M3 - Article
C2 - 32415267
AN - SCOPUS:85084749263
SN - 0893-3952
VL - 33
SP - 1922
EP - 1929
JO - Modern Pathology
JF - Modern Pathology
IS - 10
ER -