Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation
| Autor: | Maxine J. Sutcliffe, Hans-Christoph Rossbach, Dana Obzut, Tung Wynn, Cameron K. Tebbi, Dmitry Baschinsky |
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| Rok vydání: | 2007 |
| Předmět: |
Male
Pathology medicine.medical_specialty Choroid Plexus Neoplasms Adrenal Gland Neoplasms Mutation Missense Loss of Heterozygosity Breast Neoplasms Germline Loss of heterozygosity Li-Fraumeni Syndrome Neoplasms Multiple Primary Neuroblastoma Germline mutation Medicine Missense mutation Humans Point Mutation Germ-Line Mutation business.industry Brain Neoplasms Point mutation Carcinoma Infant Hematology medicine.disease Aneuploidy Genes p53 Virilism Adrenal Cortex Neoplasms Pedigree Leukemia Oncology Amino Acid Substitution Li–Fraumeni syndrome Pediatrics Perinatology and Child Health Adrenocortical Adenoma Female business Glioblastoma |
| Zdroj: | Pediatric bloodcancer. 50(3) |
| ISSN: | 1545-5017 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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