Retinoblastoma natural history, complications, and prognosis: Difference between revisions
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**Decade of diagnosis | **Decade of diagnosis | ||
*[[Prognosis]] is generally good, and the [[survival rate]] of patients with [[retinoblastoma]] with treatment is approximately 95%, in the United States.<ref name="pmid19477707">{{cite journal| author=Lin P, O'Brien JM| title=Frontiers in the management of retinoblastoma. | journal=Am J Ophthalmol | year= 2009 | volume= 148 | issue= 2 | pages= 192-8 | pmid=19477707 | doi=10.1016/j.ajo.2009.04.004 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19477707 }} </ref> | *[[Prognosis]] is generally good, and the [[survival rate]] of patients with [[retinoblastoma]] with treatment is approximately 95%, in the United States.<ref name="pmid19477707">{{cite journal| author=Lin P, O'Brien JM| title=Frontiers in the management of retinoblastoma. | journal=Am J Ophthalmol | year= 2009 | volume= 148 | issue= 2 | pages= 192-8 | pmid=19477707 | doi=10.1016/j.ajo.2009.04.004 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19477707 }} </ref> | ||
*The overall prognosis of trilateral retinoblastoma is poor and patients usually die within the first year of the diagnosis.<ref name="pmid8040018">{{cite journal |vauthors=Blach LE, McCormick B, Abramson DH, Ellsworth RM |title=Trilateral retinoblastoma--incidence and outcome: a decade of experience |journal=Int. J. Radiat. Oncol. Biol. Phys. |volume=29 |issue=4 |pages=729–33 |date=July 1994 |pmid=8040018 |doi= |url=}}</ref> | |||
*Intraocular Classification of Retinoblastoma (ICRB) has been observed to have the ability to predict the outcome of chemotherapy:<ref name="pmid16996605">{{cite journal |vauthors=Shields CL, Mashayekhi A, Au AK, Czyz C, Leahey A, Meadows AT, Shields JA |title=The International Classification of Retinoblastoma predicts chemoreduction success |journal=Ophthalmology |volume=113 |issue=12 |pages=2276–80 |date=December 2006 |pmid=16996605 |doi=10.1016/j.ophtha.2006.06.018 |url=}}</ref> | *Intraocular Classification of Retinoblastoma (ICRB) has been observed to have the ability to predict the outcome of chemotherapy:<ref name="pmid16996605">{{cite journal |vauthors=Shields CL, Mashayekhi A, Au AK, Czyz C, Leahey A, Meadows AT, Shields JA |title=The International Classification of Retinoblastoma predicts chemoreduction success |journal=Ophthalmology |volume=113 |issue=12 |pages=2276–80 |date=December 2006 |pmid=16996605 |doi=10.1016/j.ophtha.2006.06.018 |url=}}</ref> | ||
**Category A-C is associated with ≥90% chance to salvage the eye. | **Category A-C is associated with ≥90% chance to salvage the eye. | ||
**Category D is associated with a 47% chance of eye salvage. | **Category D is associated with a 47% chance of eye salvage. | ||
**Category E is excluded due to eye enucleation. | **Category E is excluded due to eye enucleation. | ||
*Prognosis is usually poor with non-ocular tumor and it usually occurs in those who received radiation therapy for their primary retinoblastoma tumors.<ref name="pmid15196536">{{cite journal |vauthors=Aerts I, Pacquement H, Doz F, Mosseri V, Desjardins L, Sastre X, Michon J, Rodriguez J, Schlienger P, Zucker JM, Quintana E |title=Outcome of second malignancies after retinoblastoma: a retrospective analysis of 25 patients treated at the Institut Curie |journal=Eur. J. Cancer |volume=40 |issue=10 |pages=1522–9 |date=July 2004 |pmid=15196536 |doi=10.1016/j.ejca.2004.03.023 |url=}}</ref> | |||
==Complications== | ==Complications== | ||
===Complications of retinoblastoma=== | ===Complications of retinoblastoma=== | ||
| Line 56: | Line 58: | ||
*Patients with this complication may remain asymptomatic and will be discovered incidentally by imaging studies or they may indicate signs of elevated intracranial pressure (ICP). | *Patients with this complication may remain asymptomatic and will be discovered incidentally by imaging studies or they may indicate signs of elevated intracranial pressure (ICP). | ||
Subsequent neoplasms | Subsequent neoplasms | ||
*Children with germline mutation of RB1 gene are at elevated risk of secondary malignant tumors.<ref name="pmid19066271">{{cite journal |vauthors=Marees T, Moll AC, Imhof SM, de Boer MR, Ringens PJ, van Leeuwen FE |title=Risk of second malignancies in survivors of retinoblastoma: more than 40 years of follow-up |journal=J. Natl. Cancer Inst. |volume=100 |issue=24 |pages=1771–9 |date=December 2008 |pmid=19066271 |doi=10.1093/jnci/djn394 |url=}}</ref> | |||
*The most common secondary tumors include: | |||
**Sarcoma | |||
**Melanoma | |||
**Brain tumors | |||
*The estimated risk of developing a secondary tumor is 20 times greater than the general population. | |||
===Complications of retinoblastoma therapy=== | ===Complications of retinoblastoma therapy=== | ||
**[[Radiation]] and [[chemotherapy]] therapy for retinoblastoma has the potential to induce secondary [[malignancies]] such as [[lymphoma]] and [[leukemia]]. In pediatric cancer patients, the [[epipodophyllotoxin]] [[etoposide]] is known to induce secondary leukemias characterized by site-specific [[DNA]] rearrangements.<ref name="pmid8070034">{{cite journal| author=Rivera GK, Pui CH, Santana VM, Pratt CB, Crist WM| title=Epipodophyllotoxins in the treatment of childhood cancer. | journal=Cancer Chemother Pharmacol | year= 1994 | volume= 34 Suppl | issue= | pages= S89-95 | pmid=8070034 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8070034 }} </ref> | **[[Radiation]] and [[chemotherapy]] therapy for retinoblastoma has the potential to induce secondary [[malignancies]] such as [[lymphoma]] and [[leukemia]]. In pediatric cancer patients, the [[epipodophyllotoxin]] [[etoposide]] is known to induce secondary leukemias characterized by site-specific [[DNA]] rearrangements.<ref name="pmid8070034">{{cite journal| author=Rivera GK, Pui CH, Santana VM, Pratt CB, Crist WM| title=Epipodophyllotoxins in the treatment of childhood cancer. | journal=Cancer Chemother Pharmacol | year= 1994 | volume= 34 Suppl | issue= | pages= S89-95 | pmid=8070034 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8070034 }} </ref> | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2] Sahar Memar Montazerin, M.D.[3]
Overview
If left untreated, retinoblastoma may progress to develop seeding in the eye, leading to retinal detachment, necrosis and invasion of the orbit, optic nerve invasion, and central nervous system invasion. The majority of untreated patients die of intracranial extension and disseminated disease within one year. Spontaneous regression of the tumor is a rare occurrence but may occur in a small number of cases. Common complications of retinoblastoma include metastasis, tumor recurrence, trilateral retinoblastoma, and subsequent neoplasms. Prognosis is generally good, and the survival rate of patients with retinoblastoma with treatment is approximately 95% in the United States.
Natural History
- Retinoblastoma usually first presents with leukocoria.[1]
- Left untreated, retinoblastoma may be deadly. The tumor will continue growing and filling the entire globe with subsequent metastasis.
- The tumor remains within the globe and curable within 3 to 6 months of its first presentation (leukocoria). Any delay in the diagnosis will decrease the survival rate.[2]
- Death may occur within one year of metastasis.
- Metastasis may occurs through four possible way:[3][4][5][6]
- Direct invasion of the central nervous system via the optic nerve.
- Through the subarachnoid space to the contralateral optic nerve
- Through the cerebrospinal fluid to the central nervous system
- Hematogenously to the lungs, bone, and brain.
- The tumor may also spread via lymphatic pathway if the tumor dispers anteriorly into the conjunctivae, eyelids, or extraocular tissue.
- Spontaneous regression of the tumor is a rare occurrence but may occur in a small number of cases.[7]
- Retinoblastoma is bilateral in 25%–35% of cases.[8]
Prognosis
- Those with heritable form of the disease have 50% risk of transmitting the mutation to their offspring.[9]
- The survival rate of the tumor varies according to different criteria including the stage of the tumor and even the geographic area of the patients.
- Regarding the variable accessibility of patients to the resources, it may range from < 30% in low and middle income societies to > 90% developped contries.[10]
- The overall 5-year survival rate increased over the years and was reported 97.3% from 2000 to 2012.[11]
- The 5-year survival rate also differs geographically and is higher in the United States than the 5-year survival rates reported in developing countries and regions.
- The survival rate is higher for unilateral involvement than the bilateral form of the tumor.
- It has been observed that survival rate varies depending following factors:
- Laterality of the tumor
- Age at the time of diagnosis
- Decade of diagnosis
- Prognosis is generally good, and the survival rate of patients with retinoblastoma with treatment is approximately 95%, in the United States.[12]
- The overall prognosis of trilateral retinoblastoma is poor and patients usually die within the first year of the diagnosis.[13]
- Intraocular Classification of Retinoblastoma (ICRB) has been observed to have the ability to predict the outcome of chemotherapy:[14]
- Category A-C is associated with ≥90% chance to salvage the eye.
- Category D is associated with a 47% chance of eye salvage.
- Category E is excluded due to eye enucleation.
- Prognosis is usually poor with non-ocular tumor and it usually occurs in those who received radiation therapy for their primary retinoblastoma tumors.[15]
Complications
Complications of retinoblastoma
- Metastatic disease associates with poor prognosis.
- Several histopathologic factors has been associated with increased risk of metastasis. these include:[16]
- Presence of orbital invasion
- Retrolaminar invasion of optic nerve
- Scleral and extrascleral invasion
- Massive choroidal invasion
- Anterior segment involvement
- The most important prognostic factor are the involvement of optic nerve posterior to the lamina cribrosa and extrascleral spread of tumor into the orbit.
- Other elements with probable risk of tumor metastasis include:
- Massive choroidal invasion
- Tumor invasion into the anterior chamber
- Large tumor size with vitreous seeding
- Neovascularization of the iris
- Glaucoma
Recurrence of tumor
Trilateral retinnoblastoma
- Trilateral retinoblasroma is a rare complication and more commonly affects those with bilateral disease who are less than 1 year of age.[17]
- Trilateral retinoblastoma is characterized by the combination of bilateral intraocular retinoblastoma and pineoblastoma, a primitive tumor of pineal gland.[18]
- Patients with this complication may remain asymptomatic and will be discovered incidentally by imaging studies or they may indicate signs of elevated intracranial pressure (ICP).
Subsequent neoplasms
- Children with germline mutation of RB1 gene are at elevated risk of secondary malignant tumors.[19]
- The most common secondary tumors include:
- Sarcoma
- Melanoma
- Brain tumors
- The estimated risk of developing a secondary tumor is 20 times greater than the general population.
Complications of retinoblastoma therapy
- Radiation and chemotherapy therapy for retinoblastoma has the potential to induce secondary malignancies such as lymphoma and leukemia. In pediatric cancer patients, the epipodophyllotoxin etoposide is known to induce secondary leukemias characterized by site-specific DNA rearrangements.[20]
- Visual field defects
- Patients with retinoblastoma demonstrate a variety of long-term visual field defects after treatment for their intraocular disease.[21]
- Hearing loss
- Age younger than 6 months at the time of treatment and higher carboplatin systemic exposures appear to correlate with an increased risk of otologic toxic effects.[22][23]
- Temporal bone hypoplasia after external beam radiation
- Cataract formation after external beam radiation
- Optic nerve atrophy after caboplatin therapy[24]
- Fibrosis of extraocular muscles after carboplatin therapy[25]
- Potential complications of enucleation include scleral perforation with seeding of tumor cells into the orbit.
References
- ↑ Pizzo, Philip (2011). Principles and practice of pediatric oncology. Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins Health. ISBN 160547682X.
- ↑ Goddard AG, Kingston JE, Hungerford JL (December 1999). "Delay in diagnosis of retinoblastoma: risk factors and treatment outcome". Br J Ophthalmol. 83 (12): 1320–3. PMID 10574806.
- ↑ Singh, Arun D., Carol L. Shields, and Jerry A. Shields. "Prognostic factors in retinoblastoma." Journal of pediatric ophthalmology and strabismus 37.3 (2000): 134.
- ↑ Khelfaoui F, Validire P, Auperin A, Quintana E, Michon J, Pacquement H, Desjardins L, Asselain B, Schlienger P, Vielh P (March 1996). "Histopathologic risk factors in retinoblastoma: a retrospective study of 172 patients treated in a single institution". Cancer. 77 (6): 1206–13. PMID 8635145.
- ↑ Kim JW, Kathpalia V, Dunkel IJ, Wong RK, Riedel E, Abramson DH (April 2009). "Orbital recurrence of retinoblastoma following enucleation". Br J Ophthalmol. 93 (4): 463–7. doi:10.1136/bjo.2008.138453. PMID 18757474.
- ↑ Leal-Leal CA, Rivera-Luna R, Flores-Rojo M, Juárez-Echenique JC, Ordaz JC, Amador-Zarco J (January 2006). "Survival in extra-orbital metastatic retinoblastoma:treatment results". Clin Transl Oncol. 8 (1): 39–44. PMID 16632438.
- ↑ Khodadoust AA, Roozitalab HM, Smith RE, Green WR (1977). "Spontaneous regression of retinoblastoma". Surv Ophthalmol. 21 (6): 467–78. PMID 898013.
- ↑ Chandra, Suresh R. (1994). "Intraocular Tumors: A Text and Atlas". Archives of Ophthalmology. 112 (2): 169. doi:10.1001/archopht.1994.01090140045016. ISSN 0003-9950.
- ↑ Garber JE, Offit K (January 2005). "Hereditary cancer predisposition syndromes". J. Clin. Oncol. 23 (2): 276–92. doi:10.1200/JCO.2005.10.042. PMID 15637391.
- ↑ Dimaras H, Kimani K, Dimba EA, Gronsdahl P, White A, Chan HS, Gallie BL (April 2012). "Retinoblastoma". Lancet. 379 (9824): 1436–46. doi:10.1016/S0140-6736(11)61137-9. PMID 22414599.
- ↑ Fernandes, Arthur Gustavo; Pollock, Benjamin D.; Rabito, Felicia A. (2018). "Retinoblastoma in the United States: A 40-Year Incidence and Survival Analysis". Journal of Pediatric Ophthalmology & Strabismus. 55 (3): 182–188. doi:10.3928/01913913-20171116-03. ISSN 0191-3913.
- ↑ Lin P, O'Brien JM (2009). "Frontiers in the management of retinoblastoma". Am J Ophthalmol. 148 (2): 192–8. doi:10.1016/j.ajo.2009.04.004. PMID 19477707.
- ↑ Blach LE, McCormick B, Abramson DH, Ellsworth RM (July 1994). "Trilateral retinoblastoma--incidence and outcome: a decade of experience". Int. J. Radiat. Oncol. Biol. Phys. 29 (4): 729–33. PMID 8040018.
- ↑ Shields CL, Mashayekhi A, Au AK, Czyz C, Leahey A, Meadows AT, Shields JA (December 2006). "The International Classification of Retinoblastoma predicts chemoreduction success". Ophthalmology. 113 (12): 2276–80. doi:10.1016/j.ophtha.2006.06.018. PMID 16996605.
- ↑ Aerts I, Pacquement H, Doz F, Mosseri V, Desjardins L, Sastre X, Michon J, Rodriguez J, Schlienger P, Zucker JM, Quintana E (July 2004). "Outcome of second malignancies after retinoblastoma: a retrospective analysis of 25 patients treated at the Institut Curie". Eur. J. Cancer. 40 (10): 1522–9. doi:10.1016/j.ejca.2004.03.023. PMID 15196536.
- ↑ Chévez-Barrios, Patricia; Eagle, Ralph C.; Marback, Eduardo F. (2015). "Histopathologic Features and Prognostic Factors": 167–183. doi:10.1007/978-3-662-43451-2_16.
- ↑ Dunkel, Ira J.; Jubran, Rima F.; Gururangan, Sri; Chantada, Guillermo L.; Finlay, Jonathan L.; Goldman, Stewart; Khakoo, Yasmin; O'Brien, Joan M.; Orjuela, Manuela; Rodriguez-Galindo, Carlos; Souweidane, Mark M.; Abramson, David H. (2010). "Trilateral retinoblastoma: Potentially curable with intensive chemotherapy". Pediatric Blood & Cancer. 54 (3): 384–387. doi:10.1002/pbc.22336. ISSN 1545-5009.
- ↑ Kim, Jonathan W.; Dunkel, Ira (2015). "Trilateral Retinoblastoma": 209–213. doi:10.1007/978-3-662-43451-2_20.
- ↑ Marees T, Moll AC, Imhof SM, de Boer MR, Ringens PJ, van Leeuwen FE (December 2008). "Risk of second malignancies in survivors of retinoblastoma: more than 40 years of follow-up". J. Natl. Cancer Inst. 100 (24): 1771–9. doi:10.1093/jnci/djn394. PMID 19066271.
- ↑ Rivera GK, Pui CH, Santana VM, Pratt CB, Crist WM (1994). "Epipodophyllotoxins in the treatment of childhood cancer". Cancer Chemother Pharmacol. 34 Suppl: S89–95. PMID 8070034.
- ↑ Abramson DH, Melson MR, Servodidio C (2004). "Visual fields in retinoblastoma survivors". Arch Ophthalmol. 122 (9): 1324–30. doi:10.1001/archopht.122.9.1324. PMID 15364711.
- ↑ Qaddoumi I, Bass JK, Wu J, Billups CA, Wozniak AW, Merchant TE; et al. (2012). "Carboplatin-associated ototoxicity in children with retinoblastoma". J Clin Oncol. 30 (10): 1034–41. doi:10.1200/JCO.2011.36.9744. PMC 3341147. PMID 22370329.
- ↑ Leahey A (2012). "A cautionary tale: dosing chemotherapy in infants with retinoblastoma". J Clin Oncol. 30 (10): 1023–4. doi:10.1200/JCO.2011.39.4254. PMID 22370322.
- ↑ Mulvihill A, Budning A, Jay V, Vandenhoven C, Heon E, Gallie BL; et al. (2003). "Ocular motility changes after subtenon carboplatin chemotherapy for retinoblastoma". Arch Ophthalmol. 121 (8): 1120–4. doi:10.1001/archopht.121.8.1120. PMID 12912689.
- ↑ Schmack I, Hubbard GB, Kang SJ, Aaberg TM, Grossniklaus HE (2006). "Ischemic necrosis and atrophy of the optic nerve after periocular carboplatin injection for intraocular retinoblastoma". Am J Ophthalmol. 142 (2): 310–5. doi:10.1016/j.ajo.2006.02.044. PMID 16876514.