Bloom syndrome in sibs: First reports of hepatocellular carcinoma and Wilms tumor with documented anaplasia and nephrogenic rests

The triad of small body size, immunodeficiency, and sun-sensitive facial er ythema characterizes the phenotype Bloom syndrome (BS), a rare autosomal re cessive disorder with a striking predisposition to multiple types of cancer s that arise earlier than expected in the general population. Here we repor t two sibs with BS. The older, a 15-year-old-girl, developed a hepatocellul ar carcinoma, a neoplasm not yet reported in association with BS. Her young er brother developed an anaplastic Wilms tumor (WT) associated with nephrog enic rests at the age of 31/2 years, and this was followed by a myelodyspla stic syndrome. Complex cytogenetic abnormalities were identified in all thr ee neoplasms. These examples expand the spectrum of malignancies occurring in BS to include liver cell neoplasms, and confirm the association of nephr ogenic rests with WT, even in the setting of BS.