"Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma"

Rhabdomyosarcoma is a malignant tumor made up of cells that normally develop into skeletal muscles. It is the most common sarcoma arising from muscle and fat tissues in childhood (pediatric soft-tissue sarcoma). approximately 70% of RMS patients are potentially curative by multimodal therapy combining surgery, radiotherapy, and chemotherapy. However, this therapy often causes post-treatment disorders (late effects) such as growth disorder, organ dysfunction, and infertility, which pose major challenges. Therefore, therapy optimization based on molecular pathogenesis is of significance to improve the cure rate of patients with rhabdomyosarcoma, and to prevent serious side and/or late effects.

Associate Professor Junko Takita of University of Tokyo Hospital, Masashi Seki of Graduate school of Medicine and Faculty of medicine, Professor Hiroyuki Aburatani (Genome Science) and Seishi Ogawa of the Kyoto University analyzed 60 rhabdomyosarcoma cases using next-generation sequencer and array techniques, revealing genetic abnormalities and structural changes in the genome, as well as epigenomics abnormalities. This led to identifying four clusters based on DNA methylation patterns, each of which has distinct tendencies in genetic abnormalities, pathological findings, and clinical characteristics. This achievement is expected to help improve prognostic prediction of rhabdomyosarcoma, develop highly precise molecular diagnosis, and optimize therapeutic treatments.