Blasi Maria Antonietta, Orteschi Daniela, Pagliara Monica M, Coco Giulia, Asaro Alessia, Mulè Antonino, Petrone Gianluigi, Zollino Marcella
Eur J Ophthalmol. 2015 Jul-Aug;25(4):e31-4. doi: 10.5301/ejo.5000600.
To determine genetic features of a pediatric uveal melanoma in a 6-year-old girl by array-based comparative genomic hybridization (a-CGH) and assess prognosis, and to search for constitutional copy number variations (CNVs) encompassing oncosuppressor genes.
High-resolution a-CGH was performed on genomic DNA from cancer cells and from peripheral blood cells. Histopathology and clinical staging of the tumor were simultaneously assessed.
Array-based CGH revealed no CNVs on tumor cells associated with poor prognosis; namely, no monosomy 3, losses of 1p, 6q, or 8p, and no gains of 8q. A unique genomic profile was observed, consisting mainly of partial terminal duplications affecting chromosomes 1, 4, 5, 9, 10, 11, 16, and 19, and complete trisomy of chromosomes 6, 7, and 20. The nonmetastatic tumor had predominantly epithelioid histology. No constitutional CNVs encompassing oncosuppressor genes were detected.
We report a very rare uveal melanoma characterized by low-risk genomic profile and poor prognostic histologic and clinical features. The child is relapse-free at 1-year follow-up. The unusual CNVs detected by a-CGH suggest specific pathogenic mechanisms.
通过基于芯片的比较基因组杂交技术（a-CGH）确定一名6岁女童小儿葡萄膜黑色素瘤的遗传特征并评估预后，同时寻找包含肿瘤抑制基因的胚系拷贝数变异（CNV）。
对癌细胞和外周血细胞的基因组DNA进行高分辨率a-CGH检测。同时评估肿瘤的组织病理学和临床分期。
基于芯片的CGH检测显示，肿瘤细胞上没有与预后不良相关的CNV；即没有3号染色体单体性、1p、6q或8p缺失，也没有8q增益。观察到一种独特的基因组图谱，主要由影响1、4、5、9、10、11、16和19号染色体的部分末端重复以及6、7和20号染色体的完全三体性组成。非转移性肿瘤主要为上皮样组织学类型。未检测到包含肿瘤抑制基因的胚系CNV。
我们报告了一例非常罕见的葡萄膜黑色素瘤，其特征为低风险基因组图谱以及预后不良的组织学和临床特征。该患儿在1年随访中无复发。a-CGH检测到的异常CNV提示了特定的致病机制。
