Retinoblastoma and mosaic 13q deletion: a case report

Abstract

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.

GA4GH Phenopackets: A Practical Introduction

“…In this article, we demonstrate the features of the GA4GH Phenopacket based on a typical clinical case report of a child with retinoblastoma. [ 5 ] Retinoblastoma is a malignant tumor of the developing retina that typically occurs in children. Retinoblastoma is the most common eye cancer in childhood, but still a relatively rare disease, occurring in approximately one in 16 000–18 000 live births worldwide.…”

“…The Phenopacket schema supports the FAIR principles (findable, accessible, interoperable, and reusable), and computability. [2][3][4][5] Specifically, Phenopackets are designed to be www.advancedsciencenews.com www.advgenet.com both human and machine-interpretable, enabling computing operations and validation on the basis of defined relationships between diagnoses, lab measurements, and genotypic information. [2] The Phenopacket schema enables comparison of sets of phenotypic attributes from individual patients.…”