Screening for Pineal Trilateral Retinoblastoma Revisited

Jong, Marcus C. de; Kors, Wijnanda A.; Moll, Annette C.; Graaf, Pim de; Castelijns, Jonas A.; Jansen, Robin W.; Gallie, Brenda L.; Soliman, Sameh E.; Shaikh, Furqan; Dimaras, Helen; Kivelä, Tero

doi:10.1016/j.ophtha.2019.10.040

Cited by 21 publications

(21 citation statements)

References 40 publications

(43 reference statements)

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“…Observed variables include laterality of retinoblastoma, age and tumor stage at initial diagnosis, and, in some patients, the number of independent tumor foci. Some patients also show retinoma, which are essentially benign retinal lesions, or develop embryonic midline tumors such as pineoblastoma [21][22][23]. Patients with heritable retinoblastoma have a higher risk of extraocular malignancies (second primary malignancies, SPM) later in life compared to children without constitutional RB1 variant [24][25][26].…”

Section: Introductionmentioning

confidence: 99%

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Hülsenbeck

Frank

Biewald

et al. 2021

Cancers

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Constitutional haploinsufficiency of the RB1 gene causes heritable retinoblastoma, a tumor predisposition syndrome. Patients with heritable retinoblastoma develop multiple retinoblastomas early in childhood and other extraocular tumors later in life. Constitutional pathogenic variants in RB1 are heterogeneous, and a few genotype-phenotype correlations have been described. To identify further genotype-phenotype relationships, we developed the retinoblastoma variant effect classification (REC), which considers each variant’s predicted effects on the common causal mediator, RB1 protein pRB. For validation, the RB1 variants of 287 patients were grouped according to REC. Multiple aspects of phenotypic expression were analyzed, known genotype-phenotype associations were revised, and new relationships were explored. Phenotypic expression of patients with REC-I, -II, and -III was distinct. Remarkably, the phenotype of patients with variants causing residual amounts of truncated pRB (REC-I) was more severe than patients with complete loss of RB1 (REC-II). The age of diagnosis of REC-I variants appeared to be distinct depending on truncation’s localization relative to pRB structure domains. REC classes identify genotype-phenotype relationships and, therefore, this classification framework may serve as a tool to develop tailored tumor screening programs depending on the type of RB1 variant.

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Section: Introductionmentioning

confidence: 99%

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Hülsenbeck

Frank

Biewald

et al. 2021

Cancers

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“…Although we cannot preclude the possibility that CNS tumours were misclassified metastatic retinoblastoma or pineoblastoma, the latency pattern (5/6 CNS SMNs diagnosed ≥9 years after retinoblastoma) would be consistent with radiation-induced tumours 24 and is longer than that the generally reported for pineoblastoma. 15 …”

Section: Discussionmentioning

confidence: 99%

“…We separated pineoblastoma from other central nervous system (CNS) tumours. Pineoblastomas typically develop within 5 years of retinoblastoma diagnosis 15 and were first recognised as distinct from other CNS primaries and retinoblastoma metastases in the late 1970s. 16 , 17 Because of the difficulties in distinguishing between recurrences and new primaries, subsequent diagnoses of retinoblastoma and cancers of the orbit (other than those classified as a sarcoma based on histologic information) were not counted as SMNs.…”

Section: Methodsmentioning

confidence: 99%

Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors

et al. 2021

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Background Increased sarcoma and melanoma risks after hereditary retinoblastoma are well established, whereas less is known about epithelial subsequent malignant neoplasms (SMNs) and risks for multiple (≥2) SMNs. Methods Leveraging long-term follow-up and detailed histologic information, we quantified incident SMN risk among 1128 hereditary and 924 nonhereditary retinoblastoma survivors (diagnosed 1914–2006; follow-up through 2016). Standardised incidence ratios (SIRs) compared cancer risk after retinoblastoma relative to the general population. We estimated cumulative incidence accounting for competing risk of death. Results Hereditary survivors had statistically significantly increased SMN risk (N = 239; SIR = 11.9; 95% confidence interval [CI] 10.4–13.5), with SIRs >80-fold for sarcomas, nasal cavity tumours and pineoblastoma. Significantly increased risks were also observed for melanoma and central nervous system, oral cavity and breast SMNs (SIRs = 3.1–17), but not the uterus, kidney, lung, bladder, pancreas or other types. Cumulative incidence 50 years following hereditary retinoblastoma was 33.1% (95% CI 29.0–37.2) for a first SMN and 6.0% (95% CI 3.8–8.2) for a second SMN. SMN risk was not increased after nonhereditary retinoblastoma (N = 25; SIR = 0.8; 95% CI 0.5–1.2). Conclusion Beyond the established sarcoma and melanoma risks after hereditary retinoblastoma, we demonstrate increased risk for a more limited number of epithelial malignancies than previously suggested. Cumulative incidence estimates emphasise long-term SMN burden after hereditary retinoblastoma.

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“…85 This occurs in 10%-15% of patients with heritable retinoblastoma. 86 The presence of CNS tumor in both midline locations is sometimes referred to as quadrilateral retinoblastoma (Fig 7). The incidence of trilateral retinoblastoma is 3.2%.…”

Section: Advanced Diseasementioning

confidence: 99%

Retinoblastoma: What the Neuroradiologist Needs to Know

Silvera¹,

Guerin²,

Brinjikji³

et al. 2021

AJNR Am J Neuroradiol

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Retinoblastoma is the most common primary intraocular tumor of childhood. Accurate diagnosis at an early stage is important to maximize patient survival, globe salvage, and visual acuity. Management of retinoblastoma is individualized based on the presenting clinical and imaging features of the tumor, and a multidisciplinary team is required to optimize patient outcomes. The neuroradiologist is a key member of the retinoblastoma care team and should be familiar with characteristic diagnostic and prognostic imaging features of this disease. Furthermore, with the adoption of intra-arterial chemotherapy as a standard of care option for globe salvage therapy in many centers, the interventional neuroradiologist may play an active role in retinoblastoma treatment. In this review, we discuss the clinical presentation of retinoblastoma, ophthalmic imaging modalities, neuroradiology imaging features, and current treatment options. ABBREVIATIONS: IACR etinoblastoma is the most common primary intraocular malignancy in children. Prompt diagnosis is essential to preserving life, eye, and sight. Neuroradiologists play an important role in diagnosis, staging, and treatment of patients with retinoblastoma. In this review, we aim to educate neuroradiologists regarding retinoblastoma imaging features and basic principles of treatment. EPIDEMIOLOGYRetinoblastoma affects 1 in 16,000 births, 1 with 8000-10,000 children diagnosed annually. There are no known geographic, racial, or sex predilections. Heritable retinoblastoma is diagnosed at a median age of 12 months and nonheritable disease at 24 months, with 80% diagnosed before 4 years of age. CLINICAL PRESENTATION AND DIAGNOSISRetinoblastoma is diagnosed by physical examination and classified as International Classification of Retinoblastoma groups A through E according to increasing severity. The most common

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Screening for Pineal Trilateral Retinoblastoma Revisited

Cited by 21 publications

References 40 publications

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors

Retinoblastoma: What the Neuroradiologist Needs to Know

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