Twin tumor registries at Children's Hospitals and Clinics of Minnesota prompt early detection, treatment of rare lung cancer in newborn boy Cancers characterized by DICER1 genetic defect are advancing new approach to cancer treatments, cures

MINNEAPOLIS, June 2, 2014 /PRNewswire/ -- Recent findings by researchers from the International Pleuropulmonary Blastoma (PPB) Registry and International Ovarian and Testicular Stromal (OTST) Tumor Registry, both based at Children's Hospitals and Clinics of Minnesota, have advanced the potential for early diagnosis and proactive treatment of children in families affected by rare genetic cancers. The latest research and its life-saving implications for a now seven-month-old infant boy were illustrated in a case report published in the May issue of the Journal of Pediatric Blood Cancer and a poster presented this week at the 2014 American Society of Clinical Oncology (ASCO) annual meeting in Chicago.

The report suggests a need to facilitate cancer screening protocols for children of parents who carry a mutation in the DICER1 gene, so-called because its function is to chop up large molecules into smaller control molecules to help regulate the output of many of the 30,000 human genes.

According to the report, in spring 2013 an infant's mother who was treated as a teenager for a Sertoli-Leydig cell tumor (SLCT), a rare ovarian cancer, learned from the Minnesota Ovarian Cancer Alliance about the International OTST Registry – a database of cancers like hers. Through her participation in the Registry she learned she carried a mutation in the DICER1 gene.

Given earlier research from the International PPB Registry uncovered linkages between DICER1 and other rare childhood cancers, the mother had her three children tested for the genetic abnormality, including her infant son born October 2013. Though asymptomatic and otherwise healthy, the newborn tested positive for the mutation and later, when the child was three months old, a proactive surveillance CT scan showed an eight-centimeter cystic mass filling the lower lobe of his right lung. Following surgery to remove the cyst, Children's doctors confirmed it was early type pleuropulmonary blastoma, or PPB, a rare tumor associated with the same DICER1 genetic mutation.

"Research from the two registries adds to our understanding of how inherited mutations can sometimes lead to cancer. We now have a small but very significant piece of the large puzzle of why children, adolescents and young adults develop PPB and rare ovarian tumors," said Kris Ann Schultz, MD, lead author on the recent report and principal investigator of the International OTST Registry, Children's.  "This work is a collaborative effort by many. However, it's the patients and families who participate in the Registries who are the biggest heroes in this story. Our great hope is that we can use what we have learned from individual stories and in some instances, individuals' leftover tumor tissue, to eventually prevent children from developing potentially lethal cancers related to DICER1."

When a PPB tumor is detected at its earliest stage, as in this case, and is treated by surgery and sometimes chemotherapy, patients have a survival rate of more than 90-percent. However, survival drops to about 50-percent if the disease advances to the solid tumor stage. Only about 50 to 60 PPB cases are diagnosed each year worldwide, mostly in children under age seven making research in this field challenging. Although most patients with PPB carry DICER1 mutations, not all children with the mutation have PPB.

The cancer discovery in this infant and his subsequent treatment were fortuitous, but not a matter of chance, reflecting instead the longstanding collaboration of multiple institutions involved in PPB and DICER1 research: Children's Hospitals and Clinics of Minnesota, Children's National Medical Center in Washington, D.C., and the Washington University School of Medicine in St. Louis.

"While this infant will need to be monitored continuously throughout his childhood, the great news is that now we know what to look for," added Yoav Messinger, MD, principal investigator of the International PPB Registry, Children's.

The International PPB and OTST Registries recommend consideration of DICER1 testing based on medical and family history. DICER1-related conditions include PPB, SLCT, cystic nephroma, ciliary body medulloepithelioma, certain thyroid conditions and rare tumors of the cervix, among others. Though optimal timing for X-rays and other tests has not been established, screening for PPB in those known to carry the DICER1 mutation focuses on children as more than 90-percent of PPB cases occur before age six. 

Children's Hospitals and Clinics of Minnesota has maintained the International PPB Registry since 1988 and the International OTST Registry since 2011. They are both entirely financed by philanthropy. 

About Children's Hospitals and Clinics of Minnesota

Children's Hospitals and Clinics of Minnesota is one of the largest pediatric health systems in the United States and the only health system in Minnesota to provide care exclusively to children, from before birth through young adulthood. An independent and not-for-profit system since 1924, Children's serves kids throughout the Upper Midwest at two free-standing hospitals, 12 primary and specialty-care clinics and six rehabilitation sites. Children's maintains its longstanding commitment to the community to improve children's health by providing high-quality, family-centered pediatric services and advancing those efforts through research and education. An award-winning health system, Children's is regularly ranked by U.S. News & World Report as a top children's hospital and by The Leapfrog Group for quality and efficiency. Please visit childrensMN.org.

SOURCE Children's Hospitals and Clinics of Minnesota



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