Ms. Kleinerman, an epidemiologist in the Radiation Epidemiology Branch, is the lead author of a recently published study, which identified for the first time that the type of RB1 mutation influences the risk of second cancers in retinoblastoma patients. Survivors of hereditary retinoblastoma, a rare childhood eye cancer, with an inherited germline RB1 mutation are at higher risk of developing a second primary cancer compared to those retinoblastoma survivors with a de novo RB1 mutation. A particularly high risk for melanoma in retinoblastoma survivors was noted, possibly due to shared genetic alterations. This study, appearing in a recent issue of the Journal of Clinical Oncology, provides new information for survivors, their parents and their health care providers about risk of second primary cancers in retinoblastoma survivors. This new information adds to the body of epidemiologic research conducted by Ms. Kleinerman and colleagues on the risks for radiation-related second cancers and other late effects in adult survivors of retinoblastoma.
By studying the relationship between second primary cancers, radiation exposure and genetic suscepbility, Ms. Kleinerman hopes to improve our understanding of radiation carcinogenesis of second primary tumors in retinoblastoma survivors, notably of the bone and soft tissue.
Reference: Kleinerman RA, Yu CL, Little MP, Li Y, Abramson D, Seddon J, Tucker MA. Variation of second cancer risk by family history of retinoblastoma among long-term survivors. J Clin Oncol 2012, epub Feb. 22.