BACKGROUND: Retinoblastoma (RB) is a potentially heritable childhood cancer that is vision- and life-threatening. Assessing the risk of inheriting RB is important for structuring ophthalmic and genetic screening of family members. PURPOSE: To create a free online application that integrates phenotypic, genetic, and familial relationships with clinical best practice surveillance guidelines for families with RB. METHODS: The risk of germline RB1 gene mutation was assessed for first- and second-degree relatives of a proband under variable clinical scenarios, integrating age, phenotype, relationship data, and genotype (germline RB1 mutation status: detected, undetected, not tested). Based on the assessed risk of a germline RB1 mutation, recommendations regarding further genetic testing as well as ophthalmic surveillance were derived from consensus guidelines. RESULTS: The recommendations depend on the RB1 germline mutation status (detected, undetected, not tested), which were further subcategorized by the results of tumor phenotype, relationship to proband, age of the relative, and family structure. The online application is available at https://nakul-singh.shinyapps.io/RB_Screening_rec/. CONCLUSIONS: The assessed risk of germline RB1 mutation determines ophthalmic surveillance recommendations. The tool may have most value in regions where access to specialized care is limited.
BACKGROUND: Retinoblastoma (RB) is a potentially heritable childhood cancer that is vision- and life-threatening. Assessing the risk of inheriting RB is important for structuring ophthalmic and genetic screening of family members. PURPOSE: To create a free online application that integrates phenotypic, genetic, and familial relationships with clinical best practice surveillance guidelines for families with RB. METHODS: The risk of germline RB1 gene mutation was assessed for first- and second-degree relatives of a proband under variable clinical scenarios, integrating age, phenotype, relationship data, and genotype (germline RB1 mutation status: detected, undetected, not tested). Based on the assessed risk of a germline RB1 mutation, recommendations regarding further genetic testing as well as ophthalmic surveillance were derived from consensus guidelines. RESULTS: The recommendations depend on the RB1 germline mutation status (detected, undetected, not tested), which were further subcategorized by the results of tumor phenotype, relationship to proband, age of the relative, and family structure. The online application is available at https://nakul-singh.shinyapps.io/RB_Screening_rec/. CONCLUSIONS: The assessed risk of germline RB1 mutation determines ophthalmic surveillance recommendations. The tool may have most value in regions where access to specialized care is limited.
Authors: Alison H Skalet; Dan S Gombos; Brenda L Gallie; Jonathan W Kim; Carol L Shields; Brian P Marr; Sharon E Plon; Patricia Chévez-Barrios Journal: Ophthalmology Date: 2017-10-18 Impact factor: 12.079