Children’s Minnesota researchers make big strides in DICER1-related cancer findings

The International PPB/DICER1 and OTST Registries had a record-breaking number of rare tumor registry enrollments in 2024; over 150 individuals from around the world enrolled, bringing total enrollment to over 1,400 individuals from 600 institutions in 62 countries. More people joining the registries helps the research team develop new ways to diagnose patients, increases sample size for analyses, advances efforts to develop novel treatments, and connects impacted patients and families.

The International PPB (now International PPB/DICER1) Registry was founded at Children’s Minnesota in 1987 in partnership with Washington University-St. Louis and now collaborates with individuals, researchers and institutions worldwide. Its mission is to improve outcomes for children and adults with rare tumors, including pleuropulmonary blastoma (PPB), Sertoli-Leydig cell tumor (SLCT) and other DICER1-related cancers. 

In 2017, the registry team published the first-ever set of surveillance guidelines for individuals with DICER1-related tumor predisposition. In 2024, the team analyzed data from more than 700 individuals with germline DICER1 variants, which is a gene change present in nearly all cells which may be inherited from a parent or arise during conception. These analyses provide key updates to testing and surveillance guidelines and were recently published by Clinical Cancer Research.  

The PPB/DICER1 and OTST Registries Principal Investigator Dr. Kris Ann Schultz and her team had 14 original manuscripts accepted for publication in 2024. Their research analyzed many aspects of oncology care, from early tumor detection and potential targets for novel therapies to surveillance and outcomes. Some key findings include:  

• Ongoing data collection showed that 15% of DICER1-related ovarian tumors were detected before the age of 8, prompting a recommendation for earlier pelvic surveillance in girls who are at risk for these tumors.
• Within the cohort of girls and young women with a Sertoli-Leydig cell tumor, the team found patients with mesenchymal heterologous elements (sarcoma-like cells within the tumor), to have a worse prognosis than those without. This finding will help determine the best course of treatment for these rare tumors.
• The registries found that 39% of individuals 12 years or older with a germline variant in DICER1 have at least one lung cyst, likely representing a regressed cystic PPB. This may help more individuals with these diagnoses receive an accurate diagnosis and tumor surveillance.

Dr. Schultz also published an additional eight abstracts and presented 15 talks, many to international audiences. Please join us in congratulating Dr. Schultz and the PPB/DICER1 and OTST Registries team on their successes. Their work is truly impacting the lives of children, adolescents and young adults with rare cancers, and families with cancer predisposition, around the globe. In addition to Dr. Schultz, the team includes: