Gretchen Williams, BS, CCRP
Anne Harris, MPH, CCRP
Pleuropulmonary blastoma (PPB) is a rare lung cancer that occurs in young children. In 1987, Children’s Minnesota established the Pleuropulmonary Blastoma Registry to collect and analyze diagnosis and treatment data on any child diagnosed with PPB. The PPB Registry has now confirmed more than 475 cases and serves as a resource on the diagnosis and treatment for medical providers around the world.
Based on these findings, in 2011 Children’s established a sister registry. The research of the International Ovarian and Testicular Stromal Tumor Registry focuses on the diagnosis and treatment of ovarian and testicular stromal tumors, rare tumors that usually occur in children, adolescents and young adults. Since its inception, the OTST Registry has enrolled 113 individuals with a rare ovarian or testicular stromal tumor. Both registries seek to understand what causes these rare tumors, how to find them earlier and how to target and cure these tumors more effectively and with fewer long-term side effects.
This work would not be possible without the support and involvement of the families who share their and their children’s clinical information and available tumor and blood samples with the registries. Thanks to these families, we are well on our way to understanding why these cancers occur, how to find them early and how to best target them with directed therapy.
Because PPB had long been suspected to be part of a familial syndrome, in 2006 the PPB Registry, which is based at Children’s, launched a genetic research study that led to the groundbreaking discovery that the DICER1 gene (critical for the last step in the production of micro RNAs, which are crucial for the control of gene expression) is mutated in individuals with PPB, and in those with a variety of tumors known to be related to PPB, including sex cord stromal ovarian tumors in girls and young women, which are now included in the DICER1-related spectrum of diseases and conditions.
It is a critical part of each registry to share these results with the patients and their families who make this research possible, so in 2006, the first PPB family meeting was held in St. Louis, and in August the fifth family meeting, this time including PPB and rare ovarian tumor families, was held in Bloomington, Minn. Attendees to the 2015 meeting traveled from 14 states, Canada, New Zealand and Australia. The goal of each meeting was to provide updates of the most-recent data regarding PPB and rare ovarian sex cord stromal tumors to the family members affected by these cancers.
PPB and rare ovarian tumor experts from Children’s were joined by registry colleagues from Barnes-Jewish/Washington University in St. Louis, Children’s National Medical Center in Washington, D.C., the National Institute of Health in Bethesda, Md.; Cincinnati Children’s Hospital, and Children’s Hospital of Philadelphia. The speakers presented information about the diagnosis and treatment of DICER1-related cancers and DICER1-associated conditions, and what the registries have learned so far in how genetics play a role in these diseases, including that more than 50 percent of OTST patients with Sertoli-Leydig cell tumor have tested positive for a DICER1 mutation in their blood (germline). In addition, attendees participated in small group discussions led by Children’s staff on topics such as nutrition and cancer, the loss of a child, long-term survivorship, and disease advocacy.
These meetings allow for direct experiences with patients and families that helped ensure that registry staff will not lose sight that it is the patients and their families who are the most important part of this research. Each day the PPB and OTST registries continues to build on and expand previous research, making each research dollar go further while providing clinically relevant information to families who are faced with these rare cancers and other associated conditions.
We look forward to using the data collected by both registries to refine treatment recommendations, identify the pathways involved in initiation of these rare tumors, and eventually develop targeted therapy for children with these rare diseases.
An often-overlooked reason to study rare tumors is we often can gain critical insights into other, far-more-common tumors. None of this work would be possible without the continuous funding from the Pine Tree Apple Tennis Classic and other donors. The registries and Children’s Minnesota thank all donors for recognizing that children with rare tumors deserve the same chance as children with more-common tumors and the same chance as all children.
DICER1 Symposium, May 14-15
Children’s Minnesota, Children’s National Medical Center, the International Pleuropulmonary Blastoma Registry and the International Ovarian & Testicular Stromal Tumor Registry will gather for the DICER1 Symposium from May 14-15 in Minneapolis. The meeting offers the opportunity for physicians and other health care professionals from around the world to advance the knowledge, understanding and management of rare cancer in children.
Gretchen Williams, BS, CCRP, is the senior clinical research coordinator and Anne Harris, MPH, CCRP, is the clinical research coordinator for hematology and oncology at Children’s Minnesota.