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RARE-14. DEVELOPMENT OF ANAPLASTIC ASTROCYTOMA AS A THIRD MALIGNANCY IN A PEDIATRIC PATIENT WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY (CMMRD): A CASE REPORT AND EVALUATION OF TUMOR GENOMICS IDENTIFYING BIALLELIC MSH6 MUTATIONS
Congenital mismatch repair deficiency (CMMRD) is a pediatric cancer predisposition syndrome secondary to biallelic mutations in mismatch repair genes including MLH1, MSH2, MSH6, and PMS2. Due to the resulting lack of repair mechanisms, these patients develop a high intracellular mutational burden an...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715130/ http://dx.doi.org/10.1093/neuonc/noaa222.725 |