Alison H Skalet1, Dan S Gombos2, Brenda L Gallie3, Jonathan W Kim4, Carol L Shields5, Brian P Marr6, Sharon E Plon7, Patricia Chévez-Barrios8. 1. Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland, Oregon. 2. The Retinoblastoma Center of Houston, Houston, Texas; Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas; Section of Ophthalmology, Department of Head & Neck Surgery, MD Anderson Cancer Center, Houston, Texas. 3. Department of Ophthalmology and Visual Sciences, The Hospital for Sick Children, Ontario, Canada. 4. Vision Center, Children's Hospital Los Angeles, Los Angeles, California; USC Roski Eye Institute, Keck School of Medicine of USC, Los Angeles, California. 5. Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. 6. Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York; Department of Ophthalmology, Weill Cornell Medical College, New York Presbyterian Hospital, New York, New York; Department of Ophthalmology, New York-Presbyterian/Columbia University Medical Center, New York, New York. 7. The Retinoblastoma Center of Houston, Houston, Texas; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas. 8. The Retinoblastoma Center of Houston, Houston, Texas; Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas; Departments of Pathology and Genomic Medicine and Ophthalmology, Houston Methodist Hospital, Houston, Texas; Departments of Pathology and Laboratory Medicine and Ophthalmology, Weill Cornell Medical College, New York, New York; Department of Pathology and Laboratory Medicine, University of Texas MD Anderson Cancer Center, Houston, Texas; Center for Cell and Gene Therapy, The Texas Children's Cancer Center, and Department of Ophthalmology, Baylor College of Medicine, Houston, Texas. Electronic address: pchevez-barrios@houstonmethodist.org.
Abstract
PURPOSE: To provide a set of surveillance guidelines for children at risk for development of retinoblastoma. DESIGN: Consensus panel. PARTICIPANTS: Expert panel of ophthalmic oncologists, pathologists, and geneticists. METHODS: A group of members of the American Association of Ophthalmic Oncologists and Pathologists (AAOOP) with support of the American Association for Pediatric Ophthalmology and Strabismus and the American Academy of Pediatrics (AAP) was convened. The panel included representative ophthalmic oncologists, pathologists, and geneticists from retinoblastoma referral centers located in various geographic regions who met and discussed screening approaches for retinoblastoma. A patient "at risk" was defined as a person with a family history of retinoblastoma in a parent, sibling, or first- or second-degree relative. MAIN OUTCOME MEASURES: Screening recommendations for children at risk for retinoblastoma. RESULTS: Consensus statement from the panel: (1) Dedicated ophthalmic screening is recommended for all children at risk for retinoblastoma above the population risk. (2) Frequency of examinations is adjusted on the basis of expected risk for RB1 mutation. (3) Genetic counseling and testing clarify the risk for retinoblastoma in children with a family history of the disease. (4) Examination schedules are stratified on the basis of high-, intermediate-, and low-risk children. (5) Children at high risk for retinoblastoma require more frequent screening, which may preferentially be examinations under anesthesia. CONCLUSIONS: Risk stratification including genetic testing and counseling serves as the basis for screening of children at elevated risk for development of retinoblastoma.
PURPOSE: To provide a set of surveillance guidelines for children at risk for development of retinoblastoma. DESIGN: Consensus panel. PARTICIPANTS: Expert panel of ophthalmic oncologists, pathologists, and geneticists. METHODS: A group of members of the American Association of Ophthalmic Oncologists and Pathologists (AAOOP) with support of the American Association for Pediatric Ophthalmology and Strabismus and the American Academy of Pediatrics (AAP) was convened. The panel included representative ophthalmic oncologists, pathologists, and geneticists from retinoblastoma referral centers located in various geographic regions who met and discussed screening approaches for retinoblastoma. A patient "at risk" was defined as a person with a family history of retinoblastoma in a parent, sibling, or first- or second-degree relative. MAIN OUTCOME MEASURES: Screening recommendations for children at risk for retinoblastoma. RESULTS: Consensus statement from the panel: (1) Dedicated ophthalmic screening is recommended for all children at risk for retinoblastoma above the population risk. (2) Frequency of examinations is adjusted on the basis of expected risk for RB1 mutation. (3) Genetic counseling and testing clarify the risk for retinoblastoma in children with a family history of the disease. (4) Examination schedules are stratified on the basis of high-, intermediate-, and low-risk children. (5) Children at high risk for retinoblastoma require more frequent screening, which may preferentially be examinations under anesthesia. CONCLUSIONS: Risk stratification including genetic testing and counseling serves as the basis for screening of children at elevated risk for development of retinoblastoma.
Authors: Ha Hai Nguyen; Hoa Thi Thanh Nguyen; Nhung Phuong Vu; Quynh Thuy Le; Chau Minh Pham; Thuong Thi Huyen; Hung Manh; Hang Le Bich Pham; Ton Dang Nguyen; Hien Thi Thu Le; Hai Van Nong Journal: Mol Vis Date: 2018-03-17 Impact factor: 2.367