Research & Innovation | Overview
Our physician-researchers have been instrumental in the publication of international consensus guidelines for surveillance of children with retinoblastoma. For example, Junne Kamihara, MD, PhD, has co-led the development of international surveillance guidelines for tumor syndromes that involve ocular tumors including retinoblastoma, DICER1 syndrome, PTEN hamartoma syndrome, von Hippel-Lindau syndrome, and others.
She also co-leads an international effort called the Global Retinoblastoma Alliance for Children (Global REACH) in collaboration with other leading retinoblastoma centers around the world. Global REACH is one of several disease-specific consortia within the Pediatric Cancer Data Commons.
Our team collaborates with other leading retinoblastoma centers in the study of new biomarkers for early detection, treatment approaches, and novel therapeutics, and is also involved with several research studies aimed at better molecular genetic diagnostics for retinoblastoma.
Relevant papers
- DICER1 Tumor Predisposition: Schultz KAP, Stewart DR, Kamihara J, Bauer AJ, Merideth MA, Stratton P, Huryn LA, Harris AK, Doros L, Field A, Carr AG, Dehner LP, Messinger Y, Hill DA.2014 Apr 24 [updated 2020 Apr 30]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022.PMID: 24761742
- DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies: Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA.Clin Cancer Res. 2018 May 15;24(10):2251-2261. doi: 10.1158/1078-0432.CCR-17-3089. Epub 2018 Jan 17.
- Retinoblastoma and Neuroblastoma Predisposition and Surveillance: Kamihara J, Bourdeaut F, Foulkes WD, Molenaar JJ, Mossé YP, Nakagawara A, Parareda A, Scollon SR, Schneider KW, Skalet AH, States LJ, Walsh MF, Diller LR, Brodeur GM.Clin Cancer Res. 2017 Jul 1;23(13):e98-e106. doi: 10.1158/1078-0432.CCR-17-0652.
- PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood: Schultz KAP, Rednam SP, Kamihara J, Doros L, Achatz MI, Wasserman JD, Diller LR, Brugières L, Druker H, Schneider KA, McGee RB, Foulkes WD.Clin Cancer Res. 2017 Jun 15;23(12):e76-e82. doi: 10.1158/1078-0432.CCR-17-0629.PMID: 28620008
- Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood: Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, Nathanson KL, States LJ, Tomlinson GE, Villani A, Voss SD, Schiffman JD, Wasserman JD.Clin Cancer Res. 2017 Jun 15;23(12):e68-e75. doi: 10.1158/1078-0432.CCR-17-0547.PMID: 28620007