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Bone and Soft Tissue Sarcoma Risk Patterns Among Survivors of Hereditary Retinoblastoma

, by DCEG Staff

Bone and soft tissue sarcoma sites

Long-term risk of bone and soft tissue sarcomas after treatment for hereditary retinoblastoma varies by age, location and sex, according to a study published in the Journal of Clinical Oncology on October 17, 2019.

Hereditary retinoblastoma, a rare eye cancer diagnosed in children, is caused by mutations in the RB1 tumor suppressor gene and has high survival rates if diagnosed and treated at an early stage. While radiotherapy and systemic chemotherapy can eliminate the tumor, they also significantly increase an individual’s risk of developing a second cancer, with the highest risks for developing bone and soft tissue sarcoma.

Ruth A. Kleinerman, M.P.H., Ph.D., deputy branch chief in the Radiation and Epidemiology Branch, and colleagues analyzed a long-term, prospective study of retinoblastoma survivors treated with radiation to better understand the patterns of sarcoma occurrence and identify risk factors for developing sarcoma. They found approximately two-thirds of bone and soft tissue sarcomas developed in the head and neck, and were diagnosed from early childhood throughout adulthood. The investigators also found that bone and soft tissue sarcomas in other parts of the body occurred in the long bones during adolescence for bone sarcomas, and in the abdomen/pelvis beginning in the fourth decade of life for soft tissue sarcomas (particularly uterine leiomyosarcoma in females).

These findings may aid the long-term clinical management of hereditary retinoblastoma survivors. Current screening guidelines for childhood survivors recommend an annual check-up that includes patient history and physical exam. Future studies for adult survivors could be designed to evaluate a risk-based screening protocol, integrating the patterns of sarcoma risks by age, location, and sex identified by this study.

Kleinerman, RA, et al. Bone and Soft-Tissue Sarcoma Risk in Long-Term Survivors of Hereditary Retinoblastoma Treated With Radiation. Journal of Clinical Oncology. Oct 17, 2019. DOI: 10.1200/JCO.19.01096. [Epub before print]