Hereditary Diffuse Infiltrating Retinoblastoma

Schedler, Katharina J. E.; Traine, Peter G.; Lohmann, Dietmar; Haritoglou, Christos; Metz, K.; Rodrigues, Eduardo B.

doi:10.3109/13816810.2014.921315

Cited by 8 publications

(14 citation statements)

References 7 publications

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“…Several mechanisms have already been discussed that include variation in the immune response to tumor antigens [6], mutation of a heterotopic precursor cell in the anterior chamber [30] or a certain mutation of the tumoral adhesive molecules that provoke the specific growth pattern [16]. This remains unclear and might be the main issue for further scientific research on this topic.…”

Section: Reviewmentioning

confidence: 99%

“…Schedler et al [16 ]reported on a family with three children affected by retinoblastoma, one with diffuse infiltrating retinoblastoma. Genetic analysis of the family showed that all three children and the clinically unremarkable father were carriers of the same oncogenic mutation in the RB1 gene.…”

Section: Reviewmentioning

confidence: 99%

“…Each case was surveyed considering general data, main symptoms, clinical findings and initial working diagnoses or referral diagnoses. Genetic testing was described in four articles [10,16,17,30]. The authors' perspective on the genetic inheritance of diffuse infiltrating retinoblastoma was provided.…”

Section: Reviewmentioning

confidence: 99%

“…The second case by Crosby et al [17] from 2009 describes a 9-year-old female presenting a unilateral diffuse infiltrating retinoblastoma with a negative family history. In 2014, our group described the case of an 8-year-old female with unilateral retinoblastoma with a positive family history of retinoblastoma in two siblings [16]. …”

Section: Reviewmentioning

confidence: 99%

“…Articles in English [3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28], German [29,30] and Spanish [31] were considered. The search term was ‘diffuse infiltrating retinoblastoma'.…”

Section: Reviewmentioning

confidence: 99%

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Clinical Presentation and Genetic Paradigm of Diffuse Infiltrating Retinoblastoma: A Review

2015

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Retinoblastoma is the most common childhood cancer. Thanks to modern technology and good medical access, mortality in Europe has decreased to about 5%. Diffuse infiltrating retinoblastoma is a very rare subtype of this neoplasm and is characterized by its atypical growth pattern. Diffuse infiltrating retinoblastoma may mimic other more innocuous diseases and may therefore be misdiagnosed. The purpose of this paper was to provide a short review of the main symptoms of diffuse infiltrating retinoblastoma presenting to the ophthalmologist and give a comparison to typical retinoblastoma. The second purpose was to set up a discussion of the genetic paradigm of diffuse infiltrating retinoblastoma. It has often been described to occur sporadically; however, in the last years, it has been shown that it might be heritable. A literature search concerning diffuse infiltrating retinoblastoma considering English, German and Spanish cases and case series identified 77 patients. Moreover, an overview of general data, main symptoms, clinical findings and initial working diagnoses or referral diagnoses is given. Males were significantly more often affected than females. Diffuse infiltrating retinoblastoma can be heritable. Genetic analysis should be offered to the patient and relatives. Interdisciplinary medical follow-up care is needed to detect associated cancers.

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Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

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Clinical Presentation and Genetic Paradigm of Diffuse Infiltrating Retinoblastoma: A Review

2015

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Retinoblastom und Retinozytom (Retinom)

et al. 2017

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Retinoblastomas are extremely rare withabout half of the cases being hereditary eye neoplasms in young children. They show highly proliferative, CRX-positive undifferentiated tumour cells (occasionally forming rosettes). Staging is performed according to the pTNM classification and the International Retinoblastoma Staging System (IRSS). The diagnostic basis for systemic administration of chemotherapy and/or radiation is postlaminar optic nerve invasion, massive choroidal tumour infiltration, scleral invasion or even extraocular invasion. In cases that are difficult to diagnose, immunohistochemical stains (CRX and Ki67) may be very helpful. Retinocytomas (retinomas) completely lack undifferentiated tumour cell areas, show an exclusive photoreceptor differentiation and an exceptionally low Ki67 index.

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Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”

Munier

Beck‐Popovic

Chantada

et al. 2019

Progress in Retinal and Eye Research

160

157

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Retinoblastoma is lethal by metastasis if left untreated, so the primary goal of therapy is to preserve life, with ocular survival, visual preservation and quality of life as secondary aims. Historically, enucleation was the first successful therapeutic approach to decrease mortality, followed over 100 years ago by the first eye salvage attempts with radiotherapy. This led to the empiric delineation of a window for conservative management subject to a "state of metastatic grace" never to be violated. Over the last two decades, conservative management of retinoblastoma witnessed an impressive acceleration of improvements, culminating in two major paradigm shifts in therapeutic strategy. Firstly, the introduction of systemic chemotherapy and focal treatments in the late 1990s enabled radiotherapy to be progressively abandoned. Around 10 years later, the advent of chemotherapy in situ, with the capitalization of new routes of targeted drug delivery, namely intra-arterial, intravitreal and now intracameral injections, allowed significant increase in eye preservation rate, definitive eradication of radiotherapy and reduction of systemic chemotherapy. Here we intend to review the relevant knowledge susceptible to improve the conservative management of retinoblastoma in compliance with the "state of metastatic grace", with particular attention to (i) reviewing how new imaging modalities impact the frontiers of conservative management, (ii) dissecting retinoblastoma genesis, growth patterns, and intraocular routes of tumor propagation, (iii) assessing major therapeutic changes and trends, (iv) proposing a classification of relapsing retinoblastoma, (v) examining treatable/preventable disease-related or treatment-induced complications, and (vi) appraising new therapeutic targets and concepts, as well as liquid biopsy potentiality.

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Hereditary Diffuse Infiltrating Retinoblastoma

Cited by 8 publications

References 7 publications

Clinical Presentation and Genetic Paradigm of Diffuse Infiltrating Retinoblastoma: A Review

Clinical Presentation and Genetic Paradigm of Diffuse Infiltrating Retinoblastoma: A Review

Retinoblastom und Retinozytom (Retinom)

Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”

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