1. Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation.
- Author
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Rossbach HC, Baschinsky D, Wynn T, Obzut D, Sutcliffe M, and Tebbi C
- Subjects
- Adrenal Cortex Neoplasms genetics, Adrenal Cortex Neoplasms metabolism, Adrenal Gland Neoplasms genetics, Adrenocortical Adenoma genetics, Adrenocortical Adenoma metabolism, Amino Acid Substitution, Aneuploidy, Brain Neoplasms genetics, Breast Neoplasms genetics, Carcinoma genetics, Choroid Plexus Neoplasms genetics, Female, Glioblastoma genetics, Humans, Infant, Loss of Heterozygosity, Male, Neoplasms, Multiple Primary genetics, Neuroblastoma genetics, Pedigree, Adrenal Cortex Neoplasms pathology, Adrenal Gland Neoplasms pathology, Adrenocortical Adenoma pathology, Genes, p53, Germ-Line Mutation, Li-Fraumeni Syndrome genetics, Mutation, Missense, Neoplasms, Multiple Primary pathology, Neuroblastoma pathology, Point Mutation, Virilism etiology
- 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., ((c) 2007 Wiley-Liss, Inc.)
- Published
- 2008
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