13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

Bestetti, Ilaria; Sironi, Alessandra; Catusi, Ilaria; Mariani, Milena; Giardino, Daniela; Manoukian, Siranoush; Milani, Donatella; Larizza, Lidia; Castronovo, Chiara; Finelli, Palma

doi:10.1186/s13039-018-0401-5

Cited by 2 publications

(2 citation statements)

References 19 publications

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“…Some of the tumours are caused by loss of the long arm of chromosome 13 [9]. is is known as RB1 gene deletion syndrome and apart from retinoblastoma it is characterised by dysmorphia and developmental delay [9].…”

Section: Disease Backgroundmentioning

confidence: 99%

The Role of Intraarterial Chemotherapy in the Management of Retinoblastoma

Pekacka

2020

Journal of Ophthalmology

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Introduction. Retinoblastoma is the most common primary intraocular neoplasm in children. With the advances in medicine, the armamentarium of available treatment modalities has grown. Intraarterial chemotherapy is a relatively new treatment method with promising outcomes. The purpose of this literature review is to evaluate its role in the management of retinoblastoma. Methods. A systematic online search was conducted using Ovid Embase and Ovid Medline. The final results included 23 studies. The studies were published between 2011 and 2019. The studies evaluated the technical success rate of IAC, globe salvage rate, and ocular and systemic complications, as well as the occurrence of deaths, metastasis, and secondary neoplasms. In total, 1827 eyes with retinoblastoma were analysed. The follow-up was between 0 and 252 months. Results. Overall globe retention rate ranged from 30% to 100%. Sixteen out of 23 studies reported ocular salvage between 60 and 80%. Eyelid oedema and erythema were the most commonly reported ocular complications following IAC. The most common systemic complications included nausea, vomiting, and neutropenia. Metastases and deaths were reported in 6 out of 23 studies. Three studies reported the development of secondary neoplasms. The technical success rate of IAC procedure ranged from 91% to 100%. Discussion. The studies have shown that IAC is a safe and effective treatment for advanced retinoblastoma, especially group D. It allows to save the globe without compromising patients’ survival. Local and systemic complications are acceptable. The role of IAC in less advanced tumours is yet to be established. Future work should focus on conducting larger prospective studies with longer follow-up. Multiple novel therapies for the management of retinoblastoma are currently being tested, including angiogenic inhibitors and targeted agents. The results seem to be promising. Future advances require a further in-depth understanding of unique genetics of retinoblastoma and complex interactions between tumour cells and their microenvironment.

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Section: Disease Backgroundmentioning

confidence: 99%

The Role of Intraarterial Chemotherapy in the Management of Retinoblastoma

Pekacka

2020

Journal of Ophthalmology

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“…Some patients with 13q-syndrome are affected by a mosaic disease and a few cases have been described [ 8 – 11 ]. Bestetti et al reported a patient with mosaic 13q deletion syndrome including RB1 but no retinoblastoma [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Retinoblastoma and mosaic 13q deletion: a case report

Gargallo

Oltra²,

Balaguer³

et al. 2021

Int J Retin Vitr

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Background Patients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, although these signs could be mild. Mosaic 13q-deletion patients have been previously reported in the literature; their phenotype is variable, and they may not be recognized. Case presentation Retinoblastoma diagnosed in a child with 13q-mosaicism confirmed in blood, oral mucosa, healthy retina and retinoblastoma. A second RB1 hit is present exclusively in the retinoblastoma sample (RB1 c.958C>T p.Arg320Ter). Other detected molecular events in retinoblastoma are 6p12.3pter gain and 6q25.3qter loss. Clinical examination is unremarkable except for clinodactyly of the right fifth finger. Discussion and conclusions We describe a case of mosaic 13q deletion syndrome affected by retinoblastoma. Molecular data obtained from the tumor analysis are similar to previous data available about this malignancy. High clinical suspicion is essential for an adequate diagnosis of mosaic cases.

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13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

Cited by 2 publications

References 19 publications

The Role of Intraarterial Chemotherapy in the Management of Retinoblastoma

The Role of Intraarterial Chemotherapy in the Management of Retinoblastoma

Retinoblastoma and mosaic 13q deletion: a case report

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