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Heritable Retinoblastoma and Pinealoma

Heritable Retinoblastoma and Pinealoma Abstract • A fourth case of bilateral retinoblastoma (RB) associated with pinealoma was identified among 56 patients with heritable RB. Using life-table analysis, the association was 5.6% 2 years after RB diagnosis. Retinoblastoma-pinealoma (RB-P) was uniformly fatal in this series and in 40 additional patients described in the literature. Ninety-five percent of patients with RB-P had bilateral RB, a positive family history of RB, or both. All patients with pinealoma presented with symptoms of increased intracranial pressure due to obstructive hydrocephalus. The advanced stage of the tumors at diagnosis may contribute to their uniform lethality. The incidence of a positive family history of RB in patients with pinealoma was higher than expected (62% of patients), which may be related to earlier surveillance and treatment of patients with positive family histories of RB. References 1. Jensen RD, Miller RW. Retinoblastoma: epidemiologic characteristics . N Engl J Med . 1971;285:307-311.Crossref 2. Kingston JE, Plowman PN, Hungerford JL. Ectopic intracranial retinoblastoma in childhood . Br J Ophthalmol . 1985;69:742-748.Crossref 3. Pesin SR, Shields JA. Seven cases of trilateral retinoblastoma . Am J Ophthalmol . 1989;107:121-126. 4. Lueder GT, Judisch GF, O'Gorman TW. Second nonocular tumors in survivors of heritable retinoblastoma . Arch Ophthalmol . 1986;104:372-373.Crossref 5. Judisch GF, Patil SR. Concurrent heritable retinoblastoma pinealoma and trisomy X . Arch Ophthalmol . 1981;99:1767-1769.Crossref 6. Lee E. Statistical Methods for Survival Data Analysis . Belmont, Calif: Lifetime Learning Publications; 1980. 7. Zimmerman LE. Trilateral retinoblastoma . In: Blodi FC, ed. Retinoblastoma . New York, NY: Churchill Livingstone Inc; 1985:185-210. 8. Jakobiec FA, Tso MOM, Zimmerman LE, Danis P. Retinoblastoma and intracranial malignancy . Cancer . 1977;39:2048-2058.Crossref 9. Donoso LA, Shields JA, Felberg NT, Martyn LJ, Truex RC, D'Cruz CA. Intracranial malignancy in patients with bilateral retinoblastoma . Retina . 1981;1:67-74.Crossref 10. Bader JL, Meadows AT, Zimmerman LE, et al. Bilateral retinoblastoma with ectopic intracranial retinoblastoma: trilateral retinoblastoma . Cancer Genet Cytogenet . 1982;5:203-213.Crossref 11. Zimmerman LE, Burns RP, Wankum GW, Tully R, Esterly JA. Trilateral retinoblastoma: ectopic intracranial retinoblastoma associated with bilateral retinoblastoma . J Pediatr Ophthalmol Strabismus . 1982;19:320-325. 12. Dudgeon J, Lee WR. The trilateral retinoblastoma syndrome . Trans Ophthalmol Soc U K . 1983;103:523-529. 13. Ehlers N, Kaae S, Rasmussen K, Ratjen E. Hereditary bilateral retinoblastoma, pinealoma and normal chromosomes: a case report . Acta Ophthalmol . 1983;61:838-843.Crossref 14. Brownstein S, de Chadarevian J-P, Little JM. Trilateral retinoblastoma: report of two cases . Arch Ophthalmol . 1984;102:257-262.Crossref 15. Michaud J, Jacob J-L, Demers J, Dumas J. Trilateral retinoblastoma: bilateral retinoblastoma with pinealoblastoma . Can J Ophthalmol . 1984;19:36-39. 16. Johnson DL, Chandra R, Fisher WS, Hammock MK, McKeown CA. Trilateral retinoblastoma: ocular and pineal retinoblastomas . J Neurosurg . 1985;63:367-370.Crossref 17. Stannard C, Knight BK, Sealy R. Pineal malignant neoplasm in association with hereditary retinoblastoma . Br J Ophthalmol . 1985;69:749-753.Crossref 18. Verin P, Comte P, Blackie C. Le retinoblastome trilateral (trilateral retinoblastoma) . Bull Soc Ophthalmol France . 1985;85:929-935. 19. Whittle IR, McClellan K, Martin FJ, Johnson IH. Concurrent pineoblastoma and unilateral retinoblastoma: a forme fruste of trilateral retinoblastoma? Neurosurgery . 1985;17:500-505.Crossref 20. Malik RK, Friedman HS, Djang WT, et al. Treatment of trilateral retinoblastoma with vincristine and cyclophosphamide . Am J Ophthalmol . 1986;102:650-656. 21. Meadows A. Trilateral retinoblastoma . Med Pediatr Oncol . 1986;14:323-326.Crossref 22. Towbin RB, Bisset GS. Pediatric case of the day . Radiographics . 1986;6:1100-1104.Crossref 23. Helveston EM, Knuth KR, Ellis FD. Retinoblastoma . J Pediatr Ophthalmol Strabismus . 1987;24:296-300. 24. Shields JA, Pesin SR, Shields CL. Trilateral retinoblastoma . J Clin Neuro Ophthalmol . 1989;9:222-223. 25. Bader JL, Miller RW, Meadows AT, Zimmerman LE, Champion LAA, Voute PA. Trilateral retinoblastoma . Lancet . 1980;2:582-583.Crossref 26. Gallie BL. Formation of retinoblastoma . In: Blodi FC, ed. Retinoblastoma . New York, NY: Churchill Livingstone Inc; 1985:175-184. 27. Judisch GF, Patil SR. Retinoblastoma genetics and genetic counseling . In: Blodi FC, ed. Retinoblastoma . New York, NY: Churchill Livingstone Inc; 1985:151-162. 28. Wara WM, Jenkin DT, Evans A, et al. Tumors of the pineal and suprasellar region: Childrens Cancer Study Group treatment results 1960-1975 . Cancer . 1979;43:698-701.Crossref 29. Packer RJ, Sutton LN, Rosenstock JG, et al. Pineal region tumors of childhood . Pediatrics . 1984;74:97-101. 30. Hoffman HJ, Yoshida M, Becker LE, Hendrick EB, Humphreys RP. Experience with pineal region tumours in childhood . Neurol Res . 1984;6:107-112. 31. Vogel F. Genetics of retinoblastoma . Hum Genet . 1979;52:1-54.Crossref 32. Kerenyi NA, Sarkar K. The postnatal transformation of the pineal gland . Acta Morphol Hung . 1968;16:223-236. 33. Abramson DH, Ellsworth RM, Kitchen FD, Tung G. Second nonocular tumors in retinoblastoma survivors: are they radiation induced? Ophthalmology . 1984;91:1351-1355.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Heritable Retinoblastoma and Pinealoma

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Publisher
American Medical Association
Copyright
Copyright © 1991 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1991.01080120091033
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Abstract

Abstract • A fourth case of bilateral retinoblastoma (RB) associated with pinealoma was identified among 56 patients with heritable RB. Using life-table analysis, the association was 5.6% 2 years after RB diagnosis. Retinoblastoma-pinealoma (RB-P) was uniformly fatal in this series and in 40 additional patients described in the literature. Ninety-five percent of patients with RB-P had bilateral RB, a positive family history of RB, or both. All patients with pinealoma presented with symptoms of increased intracranial pressure due to obstructive hydrocephalus. The advanced stage of the tumors at diagnosis may contribute to their uniform lethality. The incidence of a positive family history of RB in patients with pinealoma was higher than expected (62% of patients), which may be related to earlier surveillance and treatment of patients with positive family histories of RB. References 1. Jensen RD, Miller RW. Retinoblastoma: epidemiologic characteristics . N Engl J Med . 1971;285:307-311.Crossref 2. Kingston JE, Plowman PN, Hungerford JL. Ectopic intracranial retinoblastoma in childhood . Br J Ophthalmol . 1985;69:742-748.Crossref 3. Pesin SR, Shields JA. Seven cases of trilateral retinoblastoma . Am J Ophthalmol . 1989;107:121-126. 4. Lueder GT, Judisch GF, O'Gorman TW. Second nonocular tumors in survivors of heritable retinoblastoma . Arch Ophthalmol . 1986;104:372-373.Crossref 5. Judisch GF, Patil SR. Concurrent heritable retinoblastoma pinealoma and trisomy X . Arch Ophthalmol . 1981;99:1767-1769.Crossref 6. Lee E. Statistical Methods for Survival Data Analysis . Belmont, Calif: Lifetime Learning Publications; 1980. 7. Zimmerman LE. Trilateral retinoblastoma . In: Blodi FC, ed. Retinoblastoma . New York, NY: Churchill Livingstone Inc; 1985:185-210. 8. Jakobiec FA, Tso MOM, Zimmerman LE, Danis P. Retinoblastoma and intracranial malignancy . Cancer . 1977;39:2048-2058.Crossref 9. Donoso LA, Shields JA, Felberg NT, Martyn LJ, Truex RC, D'Cruz CA. Intracranial malignancy in patients with bilateral retinoblastoma . Retina . 1981;1:67-74.Crossref 10. Bader JL, Meadows AT, Zimmerman LE, et al. Bilateral retinoblastoma with ectopic intracranial retinoblastoma: trilateral retinoblastoma . Cancer Genet Cytogenet . 1982;5:203-213.Crossref 11. Zimmerman LE, Burns RP, Wankum GW, Tully R, Esterly JA. Trilateral retinoblastoma: ectopic intracranial retinoblastoma associated with bilateral retinoblastoma . J Pediatr Ophthalmol Strabismus . 1982;19:320-325. 12. Dudgeon J, Lee WR. The trilateral retinoblastoma syndrome . Trans Ophthalmol Soc U K . 1983;103:523-529. 13. Ehlers N, Kaae S, Rasmussen K, Ratjen E. Hereditary bilateral retinoblastoma, pinealoma and normal chromosomes: a case report . Acta Ophthalmol . 1983;61:838-843.Crossref 14. Brownstein S, de Chadarevian J-P, Little JM. Trilateral retinoblastoma: report of two cases . Arch Ophthalmol . 1984;102:257-262.Crossref 15. Michaud J, Jacob J-L, Demers J, Dumas J. Trilateral retinoblastoma: bilateral retinoblastoma with pinealoblastoma . Can J Ophthalmol . 1984;19:36-39. 16. Johnson DL, Chandra R, Fisher WS, Hammock MK, McKeown CA. Trilateral retinoblastoma: ocular and pineal retinoblastomas . J Neurosurg . 1985;63:367-370.Crossref 17. Stannard C, Knight BK, Sealy R. Pineal malignant neoplasm in association with hereditary retinoblastoma . Br J Ophthalmol . 1985;69:749-753.Crossref 18. Verin P, Comte P, Blackie C. Le retinoblastome trilateral (trilateral retinoblastoma) . Bull Soc Ophthalmol France . 1985;85:929-935. 19. Whittle IR, McClellan K, Martin FJ, Johnson IH. Concurrent pineoblastoma and unilateral retinoblastoma: a forme fruste of trilateral retinoblastoma? Neurosurgery . 1985;17:500-505.Crossref 20. Malik RK, Friedman HS, Djang WT, et al. Treatment of trilateral retinoblastoma with vincristine and cyclophosphamide . Am J Ophthalmol . 1986;102:650-656. 21. Meadows A. Trilateral retinoblastoma . Med Pediatr Oncol . 1986;14:323-326.Crossref 22. Towbin RB, Bisset GS. Pediatric case of the day . Radiographics . 1986;6:1100-1104.Crossref 23. Helveston EM, Knuth KR, Ellis FD. Retinoblastoma . J Pediatr Ophthalmol Strabismus . 1987;24:296-300. 24. Shields JA, Pesin SR, Shields CL. Trilateral retinoblastoma . J Clin Neuro Ophthalmol . 1989;9:222-223. 25. Bader JL, Miller RW, Meadows AT, Zimmerman LE, Champion LAA, Voute PA. Trilateral retinoblastoma . Lancet . 1980;2:582-583.Crossref 26. Gallie BL. Formation of retinoblastoma . In: Blodi FC, ed. Retinoblastoma . New York, NY: Churchill Livingstone Inc; 1985:175-184. 27. Judisch GF, Patil SR. Retinoblastoma genetics and genetic counseling . In: Blodi FC, ed. Retinoblastoma . New York, NY: Churchill Livingstone Inc; 1985:151-162. 28. Wara WM, Jenkin DT, Evans A, et al. Tumors of the pineal and suprasellar region: Childrens Cancer Study Group treatment results 1960-1975 . Cancer . 1979;43:698-701.Crossref 29. Packer RJ, Sutton LN, Rosenstock JG, et al. Pineal region tumors of childhood . Pediatrics . 1984;74:97-101. 30. Hoffman HJ, Yoshida M, Becker LE, Hendrick EB, Humphreys RP. Experience with pineal region tumours in childhood . Neurol Res . 1984;6:107-112. 31. Vogel F. Genetics of retinoblastoma . Hum Genet . 1979;52:1-54.Crossref 32. Kerenyi NA, Sarkar K. The postnatal transformation of the pineal gland . Acta Morphol Hung . 1968;16:223-236. 33. Abramson DH, Ellsworth RM, Kitchen FD, Tung G. Second nonocular tumors in retinoblastoma survivors: are they radiation induced? Ophthalmology . 1984;91:1351-1355.Crossref

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Archives of Ophthalmology – American Medical Association

Published: Dec 1, 1991

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