Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma
| Autor: | Krystyna H. Chrzanowska, Iwona Filipek, Agnieszka Karkucinska-Wieckowska, Małgorzata Rydzanicz, Bożenna Dembowska-Bagińska, Piotr Iwanowski, Rafał Płoski, Wiesława Grajkowska, Joanna Trubicka, Maria Łastowska, Maciej Pronicki, Katarzyna Iwanicka-Pronicka, Dorota Piekutowska-Abramczuk |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Choroid Plexus Neoplasms Cancer Research endocrine system diseases Biology Bioinformatics DNA sequencing Germline 03 medical and health sciences symbols.namesake 0302 clinical medicine Genetics medicine Humans Family history neoplasms Molecular Biology Sanger sequencing Base Sequence Mosaicism Carcinoma technology industry and agriculture High-Throughput Nucleotide Sequencing Infant Cancer Choroid plexus carcinoma medicine.disease Immunohistochemistry Magnetic Resonance Imaging 030104 developmental biology Genetic marker 030220 oncology & carcinogenesis Mutation Cancer research symbols Choroid plexus Tumor Suppressor Protein p53 |
| Zdroj: | Cancer Genetics. :79-85 |
| ISSN: | 2210-7762 |
| DOI: | 10.1016/j.cancergen.2017.07.001 |
| Popis: | Choroid plexus tumors (CPT) constitute 2%–5% of all pediatric brain tumors and include high grade choroid plexus carcinoma (CPC). About 40% of CPC patients harbor germline TP53 mutations, associated with diminished survival rates. However, the number of TP53 carriers might be underestimated due to suboptimal ability of Sanger sequencing to identify mosaicism. We describe an 18-month-old boy with ultra-rare, bilateral disseminated CPC and negative family history of cancer. Next generation sequencing (NGS) revealed constitutional mosaicism of de novo TP53 mutation, which was barely detectable by Sanger sequencing. This is the first description of a de novo TP53 mutation mosaicism in a patient with CPC. Up to now four cases of de novo TP53 mutations in CPC patients have been described but none of them were mosaic. Since TP53 mutation mosaicism may have an impact on management of patients and predisposition to other cancers, a reliable method of identification is important. Our results highlight the utility of high-throughput technologies in detection of potentially important genetic markers. |
| Databáze: | OpenAIRE |
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