1例范可尼贫血和VACTERL综合征患儿同时出现的双侧肾上腺神经母细胞瘤和肾母细胞瘤

作     者：Berrebi D. Lebras M.-N. Belarbi N. P. De Lagausie 虎小毅 

作者机构：Services de Chirurgie Pédiatrique Hpital Timone Enfant Marseille France 

出 版 物：《世界核心医学期刊文摘（儿科学分册）》 (Dkgest of the World Latest Medical Information)

年 卷 期：2006年第2卷第5期

页      面：46-46页

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 100214[医学-肿瘤学] 10[医学] 

主　　题：VACTERL综合征 肾上腺神经母细胞瘤 范可尼贫血 肾母细胞瘤 患儿 遗传性综合征 常染色体隐性 小脑发育不全 

摘      要：Fanconi’s anemia (FA) is an autosomal recessive inherited syndrome with a predisposition to malignancy. The association between FA and solid pediatric tumors is extremely rare. The authors report a rare case of VACTERL syndrome associated with FA and multiple solid pediatric tumors occurring in a very young girl. This child had numerous congenital anomalies (horseshoe kidney, cerebella hypoplas ia, microcephaly, sacral agenesis) and esophageal atresia, which was repaired in neonatal period. Such association led quickly to the diagnosis of FA. At age of 11 months, she developed simultaneously a renal tumor in a horseshoe kidney and bilateral adrenal tumors. The left adrenal mass was removed, and partial nephre ctomy was performed. Histological analysis concluded to adrenal neuroblastoma and nephroblastoma. We also evaluated the c-kit expression in these tumors to propose a therapeutic alternative to chemotherapy by oral agent STI-571 (Gleevec;Novartis, East Hanover, NJ). Strong cytoplasmic immunostaining of c-kit was found in both tumors. Unfortunately, she quickly developed a posterior cerebellar fo ssa tumor and died 1 month later. This clinical situation is very rare but suggests that young patients with FA and solid pediatric tumors may belong to a particular subgroup of FA. Further studies are necessary to test if STI-571 treatment could be efficient in such patients with pediatric tumors.