Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies
| Autor: | Andrew W, Walter, Sara, Ennis, Hunter, Best, Cecily P, Vaughn, Jeffrey J, Swensen, Amanda, Openshaw, Karen W, Gripp |
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| Rok vydání: | 2013 |
| Předmět: |
Adenosine Triphosphatases
Adolescent Brain Neoplasms Adenocarcinoma Burkitt Lymphoma Pedigree DNA-Binding Proteins Neoplasms Multiple Primary DNA Repair Enzymes Neoplastic Syndromes Hereditary Colonic Neoplasms Mutation Humans Female Colorectal Neoplasms Glioblastoma Mismatch Repair Endonuclease PMS2 |
| Zdroj: | Pediatric bloodcancer. 60(11) |
| ISSN: | 1545-5017 |
| Popis: | A 13-year-old child presented with three simultaneous malignancies: glioblastoma multiforme, Burkitt lymphoma, and colonic adenocarcinoma. She was treated for her diseases without success and died 8 months after presentation. Genetic analysis revealed a homozygous mutation in the PMS2 gene, consistent with constitutional mismatch repair deficiency. Her siblings and parents were screened: three of four siblings and both parents were heterozygous for this mutation; the fourth sibling did not have the mutation. |
| Databáze: | OpenAIRE |
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