Hematology/Oncology Division, Department of Pediatrics, University Hospital of Padova, 35128 Padova, Italy.
J Pediatr Surg. 2010 Feb;45(2):e5-8. doi: 10.1016/j.jpedsurg.2009.11.015.
Fanconi anemia (FA) is an autosomal recessive inherited syndrome characterized by congenital abnormalities, aplastic anemia, and a high likelihood of developing cancer. We describe a child who presented with 2 synchronous solid tumors (Wilms tumor and neuroblastoma), later found to have FA, who developed severe toxicity and died after a first cycle of chemotherapy. Our experience emphasizes that a predisposing genetic condition should be sought in cases of multiple tumors and that managing FA patients with cancer can be particularly difficult.
范可尼贫血症(FA)是一种常染色体隐性遗传性综合征,其特征为先天畸形、再生障碍性贫血和发生癌症的高概率。我们描述了一名患儿,其表现为 2 个同步实体肿瘤(Wilms 瘤和神经母细胞瘤),后发现存在 FA,在接受第 1 周期化疗后发生严重毒性并死亡。我们的经验强调,对于多发肿瘤病例应寻找潜在的遗传状况,并且管理患有癌症的 FA 患者可能特别困难。