Foundation Medicine supports discovery of precision therapeutics for pediatric cancers

April 18, 2016 – CAMBRIDGE. Foundation Medicine, Inc. today presented new data from more than 1,200 pediatric tumors across 51 cancer subtypes that were analyzed using the company’s comprehensive genomic profiling assays, FoundationOne® and FoundationOne® Heme. The dataset reveals novel and potentially targetable genomic alterations identified during pediatric cancer clinical care that offer the possibility for new research towards novel therapeutics. In a separate but related announcement at the White House Precision Medicine Initiative Summit in February, Foundation Medicine made this data set publically available for research to motivate and accelerate development of new therapies to fight pediatric cancer.

These findings were presented in a late-breaking poster titled “Genomic profiling of 1239 diverse pediatric cancers identifies novel discoveries across tumors” by Juliann Chmielecki, Ph.D., associate director, cancer genomics at Foundation Medicine, at the American Association for Cancer Research (AACR) Annual Meeting 2016 taking place April 16-20 in New Orleans.

The poster presentation details genomic profiles from 1,239 pediatric tumors (ages 0-18). Multiple studies are actively investigating clinically relevant genomic alterations in common tumor subtypes for therapeutic exploitation. As demonstrated by the identification of novel fusions and mutations, this data set offers significant discovery potential and can be used to generate hypotheses, validate rare findings, and investigate the genomic landscape of rare tumors in a pediatric population for which only small studies currently exist. Key findings include:

Genomic profiles from 51 disease subtypes representing sarcomas (26.6 percent), other blastomas (22.4 percent), brain tumors (20.4 percent), hematological malignancies (19.5 percent), carcinomas (9.8 percent) and gonadal tumors (1.4 percent). Alterations with proven clinical actionability in pediatric cancers (BRAF V600E and ALK, NTRK1 and ABL1 fusions) were found in 3.9 percent of samples across brain, sarcoma and hematologic cases. Three novel ALK fusions were identified in a neuroblastoma (BEND5-ALK), a soft tissue sarcoma (IGFBP5-ALK) and an astrocytoma (PPP1CB-ALK), respectively. Two novel BRAF fusions were also found in an astrocytoma (BCAS1-BRAF) and a ganglioglioma (TMEM106B-BRAF). This large data set also challenges the paradigm of “disease-specific” alterations as previously characterized fusions involving ALK, NTRK1 and PAX3 were observed in novel diseases from which they were originally reported.

Pediatric cancers are a rare and diverse collection of diseases. Childhood cancer rates have been rising slightly for the past few decades, with The American Cancer Society estimated 10,380 children in the U.S. were diagnosed with cancer in 2015. Pediatric cancer remains the leading cause of death by disease among children. Despite advances in detection and treatment of childhood cancer, over 1,900 pediatric patients in the United States succumb to disease each year.

Source: Foundation Medicine, Inc