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

Pediatr Dev Pathol. Nov-Dec 2001;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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anaplasia
  • Bloom Syndrome / genetics
  • Bloom Syndrome / pathology*
  • Carcinoma, Hepatocellular / genetics
  • Carcinoma, Hepatocellular / secondary*
  • Child, Preschool
  • Chromosome Aberrations
  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Karyotyping
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology*
  • Liver Neoplasms / genetics
  • Liver Neoplasms / pathology*
  • Male
  • Precancerous Conditions / genetics
  • Precancerous Conditions / pathology*
  • Sibling Relations
  • Tomography, X-Ray Computed
  • Wilms Tumor / genetics
  • Wilms Tumor / pathology*