Risk of Second Malignancies in Survivors of Retinoblastoma: More Than 40 Years of Follow-up

Marees, Tamara; Moll, Annette C.; Imhof, Saskia M.; Boer, Michiel R. de; Ringens, Peter J.; Leeuwen, Flora E. van

doi:10.1093/jnci/djn394

Cited by 252 publications

(278 citation statements)

References 35 publications

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“…MacCarthy et al [2] found in a cohort study that LMS is the most often reported secondary malignancy accounting for 58% of cases followed by other [1] found that LMS was the most represented of soft tissue sarcomas in patients with a history of RB, accounting for 33% of secondary tumors in a cohort study of 963 patients with RB. Interestingly, both in this study and supported by the study of Marees et al [6] it was found that LMS arose more commonly outside the field of prior radiation therapy, while the other subtypes more often arose inside the field. LMS tend to arise later after RB than other soft tissue sarcomas with 78% of LMS arose 30 years or more after initial diagnosis as compared to the majority of fibrosarcoma and rhabdomyosarcoma that arose within the first 20 years of diagnosis [1].…”

Section: Discussionsupporting

confidence: 86%

“…It has been suggested that the germline mutation predisposes to a lifelong increased risk of many forms of cancer [5]. Patients with hereditary RB have a higher cumulative risk of developing secondary malignancies than those with the non-hereditary form [2,6,7]. In one study, hereditary RB patients had an increased risk of secondary malignancy 40 years after RB treatment of approximately 28% as compared to 1.44% in patients with the nonhereditary form [6].…”

Section: Discussionmentioning

confidence: 99%

“…Patients with hereditary RB have a higher cumulative risk of developing secondary malignancies than those with the non-hereditary form [2,6,7]. In one study, hereditary RB patients had an increased risk of secondary malignancy 40 years after RB treatment of approximately 28% as compared to 1.44% in patients with the nonhereditary form [6]. It has also been demonstrated that hereditary RB survivors had a higher mortality from secondary malignancies of bone and soft tissue whereas patients with non-hereditary RB showed a higher mortality from myeloid leukemia, ovary, and kidney cancers [5].…”

Section: Discussionmentioning

confidence: 99%

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Nasal Sinus Leiomyosarcoma in a Patient with History of Non-Hereditary Unilateral Treated Retinoblastoma

Fitzpatrick

Woodworth

Monteiro

et al. 2010

Head and Neck Pathol

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Hereditary patients with a history of treated retinoblastoma (RB) have a greatly increased risk of a broad spectrum of secondary malignancies appearing many years later, with a high incidence in the head and neck region. Leiomyosarcomas (LMS) account for up to 58% of these tumors. LMS in the sinonasal region generally are uncommon and are associated with a locally aggressive course and have a poor prognosis. RB may occur in two forms. The hereditary form is generally bilateral but can present unilaterally with a positive family history and typically exhibits a germline mutation in the RB1 gene on chromosome 13. The non-hereditary form is usually unilateral but can show the same germline mutation in up to 10% of cases. Patients with hereditary RB have been shown to have a significantly higher cumulative risk of developing secondary malignancies than those with the non-hereditary form (28 vs. 1.44% respectively). Most reported cases of sinonasal LMS are in patients with a history of the bilateral hereditary form of treated RB. We report a case of LMS of the nasal sinus area in a 35-yearold African American male with a history of non-hereditary unilateral RB and radiation therapy. To the best of our knowledge, this is the first reported case of sinonasal LMS arising in a patient with a history of non-hereditary unilateral RB. The clinical history, radiology, and pathology are presented along with a brief discussion of the literature.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Nasal Sinus Leiomyosarcoma in a Patient with History of Non-Hereditary Unilateral Treated Retinoblastoma

Fitzpatrick

Woodworth

Monteiro

et al. 2010

Head and Neck Pathol

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“…The median age of a second primary tumor is between 15 and 17 years old (20,22). However, increased risks of adult tumors such as epithelial cancers of the lung, bladder, and breast as well as uterine sarcomas have also been described (23,24).…”

Section: Hereditary Rb: Introductionmentioning

confidence: 99%

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Kamihara

Bourdeaut

Foulkes

et al. 2017

Clinical Cancer Research

174

127

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Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors. However, there is not yet a clear consensus on what, if any, screening protocol would be most appropriate and effective. Neuroblastoma (NB), an embryonal tumor of the sympathetic nervous system, accounts for 15% of pediatric cancer deaths. Prior studies suggest that about 2% of patients with NB have an underlying genetic predisposition that may have contributed to the development of NB. Germline mutations in ALK and PHOX2B account for most familial NB cases. However, other cancer predisposition syndromes, such as Li-Fraumeni syndrome, RASopathies, and others, may be associated with an increased risk for NB. No established protocols for NB surveillance currently exist. Here, we describe consensus recommendations on hereditary RB and NB from the AACR Childhood Cancer Predisposition Workshop.

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“…However, the toxicity of systemic chemotherapy, still represents an issue which deserves further investigation [76,77], particularly when genomic instability is involved, as in retinoblastoma [6,7]. In an effort to improve drug delivery to the tumour, and simultaneously reduce systemic toxicity, clinical researchers have more recently developed super selective Ophthalmic Artery Infusion (SOAI) of chemotherapeutic agents [78] which, although still controversial [79,80], promises a dramatic improvement in the rate of preservation of the affected eyes [81][82][83], particularly when different drugs are combined [84][85][86].…”

Section: Current Chemotherapy For Retinoblastoma and High Doses Of VImentioning

confidence: 99%

High Doses of Ascorbate (Vitamin C): A New Frontier in the Treatment of Intraocular Cancer

Milardi¹

2016

AOVS

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Risk of Second Malignancies in Survivors of Retinoblastoma: More Than 40 Years of Follow-up

Abstract: Our analysis of middle-aged hereditary retinoblastoma survivors suggests that these individuals have an excess risk of epithelial cancer. Lifelong follow-up studies are needed to evaluate the full spectrum of subsequent cancer risk in hereditary retinoblastoma survivors.

Cited by 252 publications

References 35 publications

Nasal Sinus Leiomyosarcoma in a Patient with History of Non-Hereditary Unilateral Treated Retinoblastoma

Nasal Sinus Leiomyosarcoma in a Patient with History of Non-Hereditary Unilateral Treated Retinoblastoma

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

High Doses of Ascorbate (Vitamin C): A New Frontier in the Treatment of Intraocular Cancer

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