Pi Xiaohuan, Zhang Qiming, Wang Xinghua, Jiang Fagang
Department of Ophthalmology, The Sixth Hospital of Wuhan, Affiliated Hospital of Jianghan University, Wuhan, China.
Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Mol Genet Genomic Med. 2024 Mar;12(3):e2414. doi: 10.1002/mgg3.2414.
Retinoblastoma (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.
We 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.
A 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.
We 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.
视网膜母细胞瘤（Rb）是儿童期最常见的眼内恶性肿瘤，起源于原始视网膜干细胞或视锥前体细胞。它可由RB1基因突变或MYCN基因扩增引发。Rb极少会伴有多指畸形。
我们对先证者婴儿及其家族进行了核型分析、拷贝数变异测序和全基因组测序。记录并收集了先证者婴儿的临床病程和实验室检查结果。我们还查阅了相关文献。
一名68日龄男婴出现轴前多指畸形和角膜水肿。他的眼压为40/19 mmHg，彩色多普勒成像显示右眼玻璃体实性占位性病变伴钙化。眼部CT显示右眼有片状高密度影及钙化。这被归类为国际视网膜母细胞瘤分期系统E组视网膜母细胞瘤，有眼球摘除指征。对患儿右眼进行了眼球摘除及眼眶植入术。核型分析显示为异常的46, XY, 15pstk+核型，母亲表现出15号染色体短臂二倍体。Alx-4发育因子、13q缺失综合征和PAPA2基因已被报道为Rb合并多指畸形的潜在机制。
我们报告了一例患有Rb和多指畸形且核型为46, XY, 15pstk+的男婴病例。我们讨论了与Rb和多指畸形相关的潜在遗传因素。此外，有必要进一步探究染色体多态性在伴有多指畸形的Rb中的影响。
