Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation

Pediatr Blood Cancer. 2008 Mar;50(3):681-3. doi: 10.1002/pbc.21219.

Abstract

Composite tumors are extremely rare. Such tumors in adrenal glands are usually of neuroendocrine-neural type and occur mostly in adults. Their pathogenesis remains elusive. We report a patient with composite neuroblastoma (NB), adrenocortical tumor (ACT), and Li-Fraumeni syndrome (LFS) with germline TP53 R248W mutation. LFS predisposes to the development of leukemia, sarcomas, adrenocortical and breast carcinomas, brain tumors and, questionably, NB. A unique correlation between a single TP53 mutation (R337H) and ACT has been reported in southern Brazilian children. It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Cortex Neoplasms / genetics
  • Adrenal Cortex Neoplasms / metabolism
  • Adrenal Cortex Neoplasms / pathology*
  • Adrenal Gland Neoplasms / genetics
  • Adrenal Gland Neoplasms / pathology*
  • Adrenocortical Adenoma / genetics
  • Adrenocortical Adenoma / metabolism
  • Adrenocortical Adenoma / pathology*
  • Amino Acid Substitution
  • Aneuploidy
  • Brain Neoplasms / genetics
  • Breast Neoplasms / genetics
  • Carcinoma / genetics
  • Choroid Plexus Neoplasms / genetics
  • Female
  • Genes, p53*
  • Germ-Line Mutation*
  • Glioblastoma / genetics
  • Humans
  • Infant
  • Li-Fraumeni Syndrome / genetics*
  • Loss of Heterozygosity
  • Male
  • Mutation, Missense*
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology*
  • Neuroblastoma / genetics
  • Neuroblastoma / pathology*
  • Pedigree
  • Point Mutation*
  • Virilism / etiology*