Bilateral spontaneously regressed retinoblastoma with preservation of vision

Roberts, B N; Pilz, DT; Walters, R F

doi:10.1038/eye.1997.26

Cited by 3 publications

(3 citation statements)

References 6 publications

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“…With this patient, 16 cases of RB in children with DS have been described in the literature [5][6][7][8][9][10][11][12][13][14]. In addition to two large epidemiologic studies conducted in Norway and Denmark, it provides further evidence of a possible association between DS and RB [15,16].…”

Section: Discussionmentioning

confidence: 78%

Down syndrome: Possible predisposition to retinoblastoma

Brichard¹,

Vermylen²,

Potter³

et al. 2003

Med. Pediatr. Oncol.

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Recent studies reviewing the pattern of malignant disorders in individuals with Down syndrome (DS) suggests an association between DS and retinoblastoma (RB) [1][2][3]. We encountered such a patient: retinoblastoma in a young child with DS, and here discuss the possible link between both diseases.Our patient was a 20-month-old girl with trisomy 21 who was referred to the Ocular Oncology Unit for a suspected right intraocular tumour. She was the first child of young parents and had a history of complex cardiac malformation (atrioventricular defect and tetralogy of Fallot) that had previously been corrected. A comprehensive ocular examination under anesthesia was performed and revealed a right 12 mm Â 11 mm Â 5 mm retinal tumoral mass located 1 mm inferior to the papilla; no vitreous or subretinal seeding was detected and examination of the left eye was normal. Metastatic evaluation including cerebral magnetic resonance imaging was negative. The diagnosis of unilateral sporadic RB (Reese-Ellsworth group III) was confirmed and the child was treated with chemoreduction (6 cycles of carboplatin, vincristine, etoposide) as previously described [4] and five sessions of transpupillary thermotherapy. The patient is still well without recurrence 18 months after the last local treatment. Genetic analysis by sequencing confirmed the absence of constitutional alteration of the RB gene in this patient. DISCUSSIONWith this patient, 16 cases of RB in children with DS have been described in the literature [5][6][7][8][9][10][11][12][13][14]. In addition to two large epidemiologic studies conducted in Norway and Denmark, it provides further evidence of a possible association between DS and RB [15,16].The pattern of occurrence of malignant disorders in patients with DS is unique: the risk of leukemia is 20-fold higher in DS than in non DS whereas malignant solid tumours seem to be globally underrepresented as compared with the general population [1]. However, among these solid tumours, some are in excess including lymphomas, germ cell tumours (gonadal and extragonadal), and possibly RB [3]. Neoplasms in DS patients are seen at a younger age, sometimes in fetal life (leukemias and testicular germ cell tumours) or neonatally (leukemias and lymphomas). By contrast, other tumours are rarely seen in patients with DS, particularly neuroblastomas and nephroblastomas in young children or intracranial and peripheral nerve tumours [1,3,5]. These observations suggest that in DS, some tissues are more affected by malignant diseases; e.g., hematopoietic elementsf or germ cells and others seem to be protected. This evidence supports the hypothesis there are leukaemogenic genes and several tumour suppressor genes on chromosome 21 [3,17]. Another specific tumour profile in DS is the marked preponderance of affected males by malignant diseases and the decreased risk of secondary cancers [1].Among the 16 reported cases of RB associated with DS, a high male sex ratio of 2.5:1 is also observed (10 males; 4 females; 2 unknown). Five of the 16 patients ...

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Section: Discussionmentioning

confidence: 78%

Down syndrome: Possible predisposition to retinoblastoma

Brichard¹,

Vermylen²,

Potter³

et al. 2003

Med. Pediatr. Oncol.

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“…Further evidence has shown that 'spontaneously regressed retinoblastoma' is a rather common event [96][97][98][99][100][101][102][103] and actually malignant transformation of a spontaneously regressed tumour is also reported, 104 thus indicating the inherent plasticity of the cancer phenotype in Rb.…”

Section: The Methylation Landscape Of Retinoblastomamentioning

confidence: 99%

The Epigenetic Origin of Retinoblastoma

Milardi¹,

Loré²,

Grasso³

2012

European Ophthalmic Review

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The aim of the present review is to give new insights into the pathogenesis of retinoblastoma, by applying the principles of epigenetics to the study of clinical, epidemiological and biological data concerning the disease. As an emerging new scientific approach linking the genome to the environment, epigenetics, can not only explain the inconsistencies of the mutational ('two hit') model in the genesis of retinoblastoma, but also open new outstanding scenarios in the fields of diagnosis, treatment and prevention of this eye tumour and cancer in general. After more than four decades of predominance of the 'genetic' theory, this review represents, to the authors' knowledge, the first attempt to look at retinoblastoma from the point of view of epigenetics. The epigenetic model in the genesis of retinoblastoma, proposed herein, emphasises the role of environment and its interactions with the genome, in generating retinoblastoma in young children. Environmental toxicants, including, among others, radiations, wrong diets and infectious diseases, all play a major role in conditioning the degree of DNA methylation (one of the leading mechanisms of epigenetic gene regulation) in embryos and foetuses during pregnancy, thus leading to stable, functional alterations of the genome, which can be transmitted from one generation to the next, thus mimicking a hereditary disease. An accurate analysis of the currently available literature on both retinoblastoma and epigenetics, coupled with the knowledge of the variegated phenotypic expression of the disease, can easily lead to the conclusion that retinoblastoma is an epigenetic, rather than a genetic disease.

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“…Spontaneous regression of retinoblastoma can occur without treatment. [1][2][3][4][5] Spontaneously regressed retinoblastoma is also known as retinoma and retinocytoma and represents 1.8% of all retinoblastomas. 6 It is known that radiation therapy for an intraocular malignancy may induce cataract formation.…”

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confidence: 99%

Immunohistochemical observation of anterior subcapsular cataract in eye with spontaneously regressed retinoblastoma

Shirai¹,

Okada²,

Saika³

2010

Journal of Cataract and Refractive Surgery

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We report the histological findings of secondary cataract in an eye with a spontaneously regressed retinoblastoma to obtain keys to clarify the mechanism of this phenomenon. During phacoemulsification, opacified anterior capsule was obtained, fixed in formalin, and embedded in paraffin. Paraffin sections of the specimen were histologically observed. Hematoxylin-eosin staining showed extracellular matrix accumulation in the extracted fibrous anterior subcapsular opacification. Immunohistochemistry revealed the presence of fibrous collagen types and cellular fibronectin. Presumed lens cells amid matrix were positively labeled for vimentin, alpha-smooth muscle actin, and phospho-Smad2. Histology of the fibrous anterior subcapsular opacification tissue showed the possibility of epithelial-mesenchymal transition of the lens epithelial cells in the secondary cataract following a spontaneously regressed retinoblastoma.

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Bilateral spontaneously regressed retinoblastoma with preservation of vision

Cited by 3 publications

References 6 publications

Down syndrome: Possible predisposition to retinoblastoma

Down syndrome: Possible predisposition to retinoblastoma

The Epigenetic Origin of Retinoblastoma

Immunohistochemical observation of anterior subcapsular cataract in eye with spontaneously regressed retinoblastoma

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