Jain D, Hui P, McNamara J, Schwartz D, German J, Reyes-Múgica M
Department of Pathology, Yale University School of Medicine, 310 Cedar Street, New Haven, CT 06520-8023, USA.
Pediatr Dev Pathol. 2001 Nov-Dec;4(6):585-9. doi: 10.1007/s10024001-0082-6.
The triad of small body size, immunodeficiency, and sun-sensitive facial erythema characterizes the phenotype Bloom syndrome (BS), a rare autosomal recessive disorder with a striking predisposition to multiple types of cancers that arise earlier than expected in the general population. Here we report two sibs with BS. The older, a 15-year-old-girl, developed a hepatocellular carcinoma, a neoplasm not yet reported in association with BS. Her younger brother developed an anaplastic Wilms tumor (WT) associated with nephrogenic rests at the age of 31/2 years, and this was followed by a myelodysplastic syndrome. Complex cytogenetic abnormalities were identified in all three neoplasms. These examples expand the spectrum of malignancies occurring in BS to include liver cell neoplasms, and confirm the association of nephrogenic rests with WT, even in the setting of BS.
身材矮小、免疫缺陷和对阳光敏感的面部红斑三联征是布卢姆综合征（BS）的特征性表现，这是一种罕见的常染色体隐性疾病，极易患多种癌症，且发病时间比普通人群预期的要早。在此，我们报告了两名患有BS的同胞。年龄较大的是一名15岁女孩，患肝细胞癌，这是一种尚未报道与BS相关的肿瘤。她的弟弟在3.5岁时患了与肾源性残留相关的间变性威尔姆斯瘤（WT），随后发展为骨髓增生异常综合征。在所有这三种肿瘤中均发现了复杂的细胞遗传学异常。这些病例将BS中发生的恶性肿瘤谱扩展到包括肝细胞肿瘤，并证实了肾源性残留与WT的关联，即使在BS的情况下也是如此。
