Retinoblastoma with Unusual Association of Postaxial Polydactyly

Mishra, Deepak; Ranjan, Pratyush; Sinha, Bibhuti Prassan; Baijal, V; Bhadauria, Madhu

doi:10.5301/ejo.5000286

Cited by 1 publication

(2 citation statements)

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“…The PAPA2 locus is situated at 13q21‐q32, close to the RB gene locus 13q14.1‐q14.2. Further investigation is required to explore this potential link (Mishra et al., 2013 ). While retinoblastoma is highly curable, it remains fatal if left untreated.…”

Section: Discussionmentioning

confidence: 99%

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Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review

Pi,

Zhang,

Wang

et al. 2024

Molec Gen & Gen Med

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BackgroundRetinoblastoma (Rb) is the most common intraocular malignancy in childhood, originating from primitive retinal stem cells or cone precursor cells. It can be triggered by mutations of the RB1 gene or amplification of the MYCN gene. Rb may rarely present with polydactyly.MethodsWe conducted karyotype analysis, copy number variation sequencing, and whole‐genome sequencing on the infant proband and his family. The clinical course and laboratory results of the proband's infant were documented and collected. We also reviewed the relevant literature.ResultsA 68‐day‐old boy presented with preaxial polydactyly and corneal edema. His intraocular pressure (IOP) was 40/19 mmHg, and color Doppler imaging revealed vitreous solid mass‐occupying lesions with calcification in the right eye. Ocular CT showed flaky high‐density and calcification in the right eye. This was classified as an International Retinoblastoma Staging System group E retinoblastoma with an indication for enucleation. Enucleation and orbital implantation were performed on the child's right eye. Karyotype analysis revealed an abnormal 46, XY, 15pstk+ karyotype, and the mother exhibited diploidy of the short arm of chromosome 15. The Alx‐4 development factor, 13q deletion syndrome, and the PAPA2 gene have been reported as potential mechanisms for Rb combined with polydactyly.ConclusionWe report the case of a baby boy with Rb and polydactyly exhibiting a 46, XY, 15pstk+ Karyotype. We discuss potential genetic factors related to both Rb and polydactyly. Furthermore, there is a need for further exploration into the impact of chromosomal polymorphisms in Rb with polydactyly.

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Section: Discussionmentioning

confidence: 99%

“…Unfortunately, this case was not subjected to DNA sequencing analysis. In 2013, a study from India reported on an 8‐year‐old boy with retinoblastoma and postaxial polydactyly (Mishra et al., 2013 ). Similarly, the boy had no family history, experiencing vision loss in his left eye.…”

Section: Discussionmentioning

confidence: 99%