Impact of early delivery of children with familial retinoblastoma after prenatal RB1 mutation identification Sameh E. Soliman, MD; Helen Dimaras, PhD; Vikas Khetan, MB, BS; Elise Héon, MD, FRCSC; Helen S. L. Chan, MB, BS, FRCSC; Brenda L. Gallie, MD, FRCSC Corresponding Author: Dr. Brenda Gallie at the Department of Ophthalmology and Vision Sciences, the Hospital for Sick Children, 525 University Avenue, 8 th floor, Toronto, ON M5G 2L3, Canada, or at [email protected]Authors’ Affiliations: Departments of Ophthalmology & Vision Sciences, (Soliman, Dimaras, Héon , Gallie) and Division of Hematology/Oncology, Pediatrics (Chan), Hospital for Sick Children, Toronto, Canada; Division of Visual Sciences, Toronto Western Research Institute, Toronto, Canada (Héon , Gallie); Ophthalmology Department, Faculty of Medicine, Alexandria University, Egypt (Soliman);
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Impact of early delivery of children with familial
retinoblastoma after prenatal RB1 mutation
identification
Sameh E. Soliman, MD; Helen Dimaras, PhD; Vikas Khetan, MB, BS; Elise Héon, MD, FRCSC;
Helen S. L. Chan, MB, BS, FRCSC; Brenda L. Gallie, MD, FRCSC
Corresponding Author: Dr. Brenda Gallie at the Department of Ophthalmology and Vision
Sciences, the Hospital for Sick Children, 525 University Avenue, 8th floor, Toronto, ON M5G 2L3,
3. Lohmann DR, Gallie BL. Retinoblastoma. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(R). Seattle (WA)2000.
4. Butros LJ, Abramson DH, Dunkel IJ. Delayed diagnosis of retinoblastoma: analysis of degree, cause, and potential consequences. Pediatrics. 2002;109(3):E45.
5. Abramson DH, Mendelsohn ME, Servodidio CA, Tretter T, Gombos DS. Familial retinoblastoma: where and when? Acta Ophthalmol Scand. 1998;76(3):334-338.
6. Noorani HZ, Khan HN, Gallie BL, Detsky AS. Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet. 1996;59(2):301-307.
7. Imhof SM, Moll AC, Schouten-van Meeteren AY. Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands. Br J Ophthalmol. 2006;90(7):875-878.
8. Abouzeid H, Schorderet DF, Balmer A, Munier FL. Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis. Mol Vis. 2009;15:771-777.
9. Abramson DH, Du TT, Beaverson KL. (Neonatal) retinoblastoma in the first month of life. Arch Ophthalmol. 2002;120(6):738-742.
10. Rushlow D, Piovesan B, Zhang K, et al. Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat. 2009;30(5):842-851.
11. National Retinoblastoma Strategy Canadian Guidelines for Care / Stratégie thérapeutique du rétinoblastome guide clinique canadien. Can J Ophthalmol. 2009;44(Supp 2):S1-88.
12. Born Too Soon: The Global Action Report on Preterm Birth. Geneva: World Health Organization;2012.
13. ACOG Committee Opinion No 579: Definition of term pregnancy. Obstet Gynecol. 2013;122(5):1139-1140.
14. Cheong JL, Doyle LW. Increasing rates of prematurity and epidemiology of late preterm birth. Journal of paediatrics and child health. 2012;48(9):784-788.
15. Woythaler MA, McCormick MC, Smith VC. Late preterm infants have worse 24-month neurodevelopmental outcomes than term infants. Pediatrics. 2011;127(3):e622-629.
16. Poulsen G, Wolke D, Kurinczuk JJ, et al. Gestational age and cognitive ability in early childhood: a population-based cohort study. Paediatr Perinat Epidemiol. 2013;27(4):371-379.
17. Bedny M, Saxe R. Insights into the origins of knowledge from the cognitive neuroscience of blindness. Cogn Neuropsychol. 2012;29(1-2):56-84.
18. Murphree AL. Intraocular retinoblastoma: the case for a new group classification. Ophthalmology clinics of North America. 2005;18:41-53.
19. Richter S, Vandezande K, Chen N, et al. Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet. 2003;72(2):253-269.
Early delivery of children at risk for retinoblastoma
19
20. Sahgal A, Millar BA, Michaels H, et al. Focal stereotactic external beam radiotherapy as a vision-sparing method for the treatment of peripapillary and perimacular retinoblastoma: preliminary results. Clinical Oncology (Royal College Of Radiologists). 2006;18(8):628-634.
21. Cowell JK, Bia B. A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype. Oncogene. 1998;16(24):3211-3213.
22. Balmer A, Munier F, Gailloud C, Uffer S, van Melle G. [New retinal tumors in hereditary retinoblastoma]. Klinische Monatsblatter fur Augenheilkunde. 1995;206(5):328-331.
23. Chan HSL. Combination Chemotherapy and Cyclosporine Followed by Focal Therapy for Bilateral Retinoblastoma NCT00110110. 2005; https://clinicaltrials.gov/ct2/show/NCT00110110?term=retinoblastoma&intr=cyclosporin&rank=1.
24. Lohmann D, Gallie BL. Retinoblastoma. In: Pagon RA AM, Bird TD, Dolan CR, Fong C-T, and Stephens K. , ed. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available at http://www.ncbi.nlm.nih.gov/books/NBK1116/2013.
25. Houdayer C, Gauthier-Villars M, Lauge A, et al. Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. Hum Mutat. 2004;23(2):193-202.
26. Gombos DS. Retinoblastoma in the perinatal and neonatal child. Semin Fetal Neonatal Med. 2012;17(4):239-242.
27. Abramson DH, Niksarli K, Ellsworth RM, Servodidio CA. Changing trends in the management of retinoblastoma: 1951-1965 vs 1966-1980. J Pediatr Ophthalmol Strabismus. 1994;31(1):32-37.
28. Abramson DH, Greenfield DS, Ellsworth RM. Bilateral retinoblastoma. Correlations between age at diagnosis and time course for new intraocular tumors. Ophthalmic Paediatrics And Genetics. 1992;13(1):1-7.
29. Abramson DA, Gallie BL. Retinoblastoma. Current Opinion in Ophthalmology. 1992;3:302-311.30. Chan HS, Grogan TM, DeBoer G, Haddad G, Gallie BL, Ling V. Diagnosis and reversal of multidrug
resistance in paediatric cancers. European Journal Of Cancer. 1996;32A(6):1051-1061.31. Sreenivasan S, Ravichandran S, Vetrivel U, Krishnakumar S. Modulation of multidrug resistance 1
expression and function in retinoblastoma cells by curcumin. Journal of pharmacology & pharmacotherapeutics. 2013;4(2):103-109.
32. Barot M, Gokulgandhi MR, Pal D, Mitra AK. In vitro moxifloxacin drug interaction with chemotherapeutics: implications for retinoblastoma management. Exp Eye Res. 2014;118:61-71.
33. Yague E, Arance A, Kubitza L, et al. Ability to acquire drug resistance arises early during the tumorigenesis process. Cancer Res. 2007;67(3):1130-1137.
34. Mallipatna AC, Dimaras H, Chan HS, Heon E, Gallie BL. Periocular topotecan for intraocular retinoblastoma. Arch Ophthalmol. 2011;129(6):738-745.
35. Rothschild PR, Levy D, Savignoni A, et al. Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study. Eye (Lond). 2011;25(12):1555-1561.
36. Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2015;45(1):16-26.
37. Tabor A, Vestergaard CH, Lidegaard O. Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2009;34(1):19-24.
38. Dimaras H, Kimani K, Dimba EA, et al. Retinoblastoma. Lancet. 2012;379(9824):1436-1446.39. Dommering CJ, Garvelink MM, Moll AC, et al. Reproductive behavior of individuals with
increased risk of having a child with retinoblastoma. Clin Genet. 2012;81(3):216-223.
Early delivery of children at risk for retinoblastoma
20
40. Lau CS, Choy KW, Fan DS, et al. Prenatal screening for retinoblastoma in Hong Kong. Hong Kong Med J. 2008;14(5):391-394.
41. Castera L, Gauthier-Villars M, Dehainault C, et al. Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma. Prenatal Diagnosis. 2011;31(11):1106-1108.
Early delivery of children at risk for retinoblastoma
21
Early delivery of children at risk for retinoblastoma
22
Author contributions:
SS and BG had full access to all the data in the study and take responsibility for the integrity of
the data and the accuracy of the data analysis.
Study concept and design: Soliman, Gallie,
Acquisition, analysis, or interpretation of data: Soliman, Dimaras, Khetan, Gallie
Drafting of the manuscript: Soliman, Dimaras, Khetan, Gallie
Critical revision of the manuscript for important intellectual content: Dimaras, Gallie, Chan,
Héon
Statistical analysis: Soliman, Dimaras, Gallie
Study supervision: Chan, Héon, Gallie
Sameh Gaballah, 12/08/15,
Only one or two authors to be written as per the JAMA guidelines
Early delivery of children at risk for retinoblastoma
23
1. Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma. Genes Chromosomes Cancer. 2007;46(7):617-634.
3. Lohmann DR, Gallie BL. Retinoblastoma. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(R). Seattle (WA)2000.
4. Butros LJ, Abramson DH, Dunkel IJ. Delayed diagnosis of retinoblastoma: analysis of degree, cause, and potential consequences. Pediatrics. 2002;109(3):E45.
5. Abramson DH, Mendelsohn ME, Servodidio CA, Tretter T, Gombos DS. Familial retinoblastoma: where and when? Acta Ophthalmol Scand. 1998;76(3):334-338.
6. Noorani HZ, Khan HN, Gallie BL, Detsky AS. Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet. 1996;59(2):301-307.
7. Imhof SM, Moll AC, Schouten-van Meeteren AY. Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands. Br J Ophthalmol. 2006;90(7):875-878.
8. Abouzeid H, Schorderet DF, Balmer A, Munier FL. Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis. Mol Vis. 2009;15:771-777.
9. Abramson DH, Du TT, Beaverson KL. (Neonatal) retinoblastoma in the first month of life. Arch Ophthalmol. 2002;120(6):738-742.
10. Rushlow D, Piovesan B, Zhang K, et al. Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat. 2009;30(5):842-851.
11. National Retinoblastoma Strategy Canadian Guidelines for Care / Stratégie thérapeutique du rétinoblastome guide clinique canadien. Can J Ophthalmol. 2009;44(Supp 2):S1-88.
12. Born Too Soon: The Global Action Report on Preterm Birth. Geneva: World Health Organization;2012.
13. ACOG Committee Opinion No 579: Definition of term pregnancy. Obstet Gynecol. 2013;122(5):1139-1140.
14. Cheong JL, Doyle LW. Increasing rates of prematurity and epidemiology of late preterm birth. Journal of paediatrics and child health. 2012;48(9):784-788.
15. Woythaler MA, McCormick MC, Smith VC. Late preterm infants have worse 24-month neurodevelopmental outcomes than term infants. Pediatrics. 2011;127(3):e622-629.
16. Poulsen G, Wolke D, Kurinczuk JJ, et al. Gestational age and cognitive ability in early childhood: a population-based cohort study. Paediatr Perinat Epidemiol. 2013;27(4):371-379.
17. Bedny M, Saxe R. Insights into the origins of knowledge from the cognitive neuroscience of blindness. Cogn Neuropsychol. 2012;29(1-2):56-84.
18. Murphree AL. Intraocular retinoblastoma: the case for a new group classification. Ophthalmology clinics of North America. 2005;18:41-53.
19. Richter S, Vandezande K, Chen N, et al. Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet. 2003;72(2):253-269.
20. Sahgal A, Millar BA, Michaels H, et al. Focal stereotactic external beam radiotherapy as a vision-sparing method for the treatment of peripapillary and perimacular retinoblastoma: preliminary results. Clinical Oncology (Royal College Of Radiologists). 2006;18(8):628-634.
21. Cowell JK, Bia B. A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype. Oncogene. 1998;16(24):3211-3213.
22. Balmer A, Munier F, Gailloud C, Uffer S, van Melle G. [New retinal tumors in hereditary retinoblastoma]. Klinische Monatsblatter fur Augenheilkunde. 1995;206(5):328-331.
Early delivery of children at risk for retinoblastoma
24
23. Chan HSL. Combination Chemotherapy and Cyclosporine Followed by Focal Therapy for Bilateral Retinoblastoma NCT00110110. 2005; https://clinicaltrials.gov/ct2/show/NCT00110110?term=retinoblastoma&intr=cyclosporin&rank=1.
24. Lohmann D, Gallie BL. Retinoblastoma. In: Pagon RA AM, Bird TD, Dolan CR, Fong C-T, and Stephens K. , ed. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available at http://www.ncbi.nlm.nih.gov/books/NBK1116/2013.
25. Houdayer C, Gauthier-Villars M, Lauge A, et al. Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. Hum Mutat. 2004;23(2):193-202.
26. Gombos DS. Retinoblastoma in the perinatal and neonatal child. Semin Fetal Neonatal Med. 2012;17(4):239-242.
27. Abramson DH, Niksarli K, Ellsworth RM, Servodidio CA. Changing trends in the management of retinoblastoma: 1951-1965 vs 1966-1980. J Pediatr Ophthalmol Strabismus. 1994;31(1):32-37.
28. Abramson DH, Greenfield DS, Ellsworth RM. Bilateral retinoblastoma. Correlations between age at diagnosis and time course for new intraocular tumors. Ophthalmic Paediatrics And Genetics. 1992;13(1):1-7.
29. Abramson DA, Gallie BL. Retinoblastoma. Current Opinion in Ophthalmology. 1992;3:302-311.30. Chan HS, Grogan TM, DeBoer G, Haddad G, Gallie BL, Ling V. Diagnosis and reversal of multidrug
resistance in paediatric cancers. European Journal Of Cancer. 1996;32A(6):1051-1061.31. Sreenivasan S, Ravichandran S, Vetrivel U, Krishnakumar S. Modulation of multidrug resistance 1
expression and function in retinoblastoma cells by curcumin. Journal of pharmacology & pharmacotherapeutics. 2013;4(2):103-109.
32. Barot M, Gokulgandhi MR, Pal D, Mitra AK. In vitro moxifloxacin drug interaction with chemotherapeutics: implications for retinoblastoma management. Exp Eye Res. 2014;118:61-71.
33. Yague E, Arance A, Kubitza L, et al. Ability to acquire drug resistance arises early during the tumorigenesis process. Cancer Res. 2007;67(3):1130-1137.
34. Mallipatna AC, Dimaras H, Chan HS, Heon E, Gallie BL. Periocular topotecan for intraocular retinoblastoma. Arch Ophthalmol. 2011;129(6):738-745.
35. Rothschild PR, Levy D, Savignoni A, et al. Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study. Eye (Lond). 2011;25(12):1555-1561.
36. Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2015;45(1):16-26.
37. Tabor A, Vestergaard CH, Lidegaard O. Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2009;34(1):19-24.
38. Dimaras H, Kimani K, Dimba EA, et al. Retinoblastoma. Lancet. 2012;379(9824):1436-1446.39. Dommering CJ, Garvelink MM, Moll AC, et al. Reproductive behavior of individuals with
increased risk of having a child with retinoblastoma. Clin Genet. 2012;81(3):216-223.40. Lau CS, Choy KW, Fan DS, et al. Prenatal screening for retinoblastoma in Hong Kong. Hong Kong
Med J. 2008;14(5):391-394.41. Castera L, Gauthier-Villars M, Dehainault C, et al. Mosaicism in clinical practice exemplified by
prenatal diagnosis in retinoblastoma. Prenatal Diagnosis. 2011;31(11):1106-1108.