Bilateral retinoblastoma with ectopic intracranial retinoblastoma: Trilateral retinoblastoma☆
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Cited by (118)
Retinoblastoma
2022, Clinical Ophthalmic Genetics and GenomicsConservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”
2019, Progress in Retinal and Eye ResearchCitation Excerpt :Approximately 3.5% of patients with hereditary retinoblastoma will develop an intracranial tumor, located most often in the pineal gland and less frequently in the supra- or parasellar region (de Jong et al., 2014a) (Fig. 5A and B). Such a primitive neuroectodermal tumor associated with hereditary retinoblastoma was first described in 1977 (Jakobiec et al., 1977) and in 1982, named trilateral retinoblastoma (Bader et al., 1982). Originally considered to have a dismal prognosis (Kivela, 1999; Paulino, 1999), sophisticated imaging allowing earlier detection and improved chemotherapy regimens have, since 1995, significantly increased 5-year survival rates from 6 to 44% for pineal tumors and from 0 to 57% for non-pineal tumors (de Jong et al., 2014a).
22 - Familial Tumor Syndromes
2018, Practical Surgical Neuropathology: A Diagnostic Approach A Volume in the Pattern Recognition SeriesMagnetic resonance imaging based morphologic evaluation of the pineal gland for suspected pineoblastoma in retinoblastoma patients and age-matched controls
2015, Journal of the Neurological SciencesCitation Excerpt :The term ‘Trilateral Retinoblastoma’ (TRb) describes the presentation of bilateral retinoblastomas together with the existence of a PNET within the pineal gland or the suprasellar space [3–5]. The reported incidence of PNET in Rb patients is 2–5% [6,7], of those the majorities are bilateral cases, but heriditary unilateral cases have been reported as well [8]. De Jong et al. reported in a meta-analysis of 23 retinoblastoma cohorts from 26 studies that the chance of pineal trilateral retinoblastoma is 4.2% (95% CI: 2.6–6.2%) in bilateral cases and the chance of non-pineal trilateral retinoblastoma is 0.8% (95% CI: 0.4–1.3%) [9].
The Biology of Retinoblastoma
2015, Progress in Molecular Biology and Translational ScienceCitation Excerpt :As mentioned earlier, retinoblastoma presents in two distinct clinical forms: (1) a hereditary form in which tumors are bilateral (both eyes affected) and multifocal, usually presenting at an earlier age; and (2) a nonhereditary/sporadic form in which tumors are unilateral (only one eye affected) and unifocal, usually presenting at a later age. Trilateral RB is an entity wherein patients have bilateral retinoblastoma and a third primary intracranial tumor29 which may be a primitive neuroectodermal tumor, a pinealoblastoma, or ependymoblastoma. A novel subset of unilateral nonfamilial cases of retinoblastoma that lack mutations in the RB1 gene but are driven by MYCN amplification (RB1+/+MYCNA) have been described.
Retinoblastoma. Fifty years of progress. the LXXI Edward Jackson memorial lecture
2014, American Journal of OphthalmologyCitation Excerpt :Trilateral retinoblastoma was described in the early 1980s.16,17 This entity includes bilateral retinoblastoma and a third primary intracranial tumor,16,18 which may be a primitive neuroectodermal tumor, pineal blastoma, or ependymoblastoma.19 Another unusual variant of retinoblastoma is anterior diffuse retinoblastoma.20,21
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This work was supported in part by a contract (NO1-CP-91049) from the National Institutes of Health.