title: Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation.
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.
authors.affiliation: Division of Pediatric Hematology/Oncology, St. Joseph Children's Hospital, Tampa, Florida, USA. hanschristoph.rossbach@baycare.org
authors.forename: Hans-Christoph
authors.initials: HC
authors.lastname: Rossbach
authors.forename: Dmitry
authors.initials: D
authors.lastname: Baschinsky
authors.forename: Tung
authors.initials: T
authors.lastname: Wynn
authors.forename: Dana
authors.initials: D
authors.lastname: Obzut
authors.forename: Maxine
authors.initials: M
authors.lastname: Sutcliffe
authors.forename: Cameron
authors.initials: C
authors.lastname: Tebbi
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000473:pathology*; D018246:Adrenocortical Adenoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D019943:Amino Acid Substitution; D000782:Aneuploidy; D001932:Brain Neoplasms / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics; D002277:Carcinoma / Q000235:genetics; D016545:Choroid Plexus Neoplasms / Q000235:genetics; D005260:Female; D016158:Genes, p53; D018095:Germ-Line Mutation; D005909:Glioblastoma / Q000235:genetics; D006801:Humans; D007223:Infant; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D019656:Loss of Heterozygosity; D008297:Male; D020125:Mutation, Missense; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology*; D009447:Neuroblastoma / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D017354:Point Mutation; D014770:Virilism / Q000209:etiology*