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Author Notes:

Kris Ann P. Schultz, MD, Cancer and Blood Disorders, 2530 Chicago Avenue South, Minneapolis, MN 55404, 612-813-5940, FAX: 612-813-6325, krisann.schultz@childrensmn.org

The authors wish to thank the many treating physicians, genetic counselors, and patients and families who collaboratively support the International PPB/DICER1 Registry. The authors also wish to thank Children’s Minnesota, and the Pine Tree Apple Classic Fund, whose volunteers, players and donors have provided more than 30 years of continuous support of PPB research.

The authors also wish to thank Gretchen M. Williams for her contributions to this manuscript and many years of thoughtful work on behalf of children with all types of PPB.

DRS provides telegenetics services for Genome Medical, Inc, in accordance with relevant National Cancer Institute policies. The other authors have no conflicts of interest to disclose. DAH is founder/investor in ResourcePath LLC.


Research Funding:

This work was also funded by National Institutes of Health grant NCI R01CA143167 (Hill) and by the Division of Cancer Epidemiology and Genetics of the National Cancer Institute.


  • Pleuropulmonary blastoma
  • sarcoma
  • DICER1
  • tumor predisposition
  • cancer genetics

Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation

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Journal Title:



Volume 33, Number 10


, Pages 1922-1929

Type of Work:

Article | Post-print: After Peer Review


Since the original description of pathogenic germline DICER1 variation underlying 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 to 14 years). Primary sites of origin included the Fallopian tube (4 cases), serosal surface of the colon (one case), and pelvic sidewall (2 cases). One case had pathologic features of type I PPB, another type Ir (regressed) PPB and the remaining 5 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.

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