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...

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Detalles Bibliográficos
Autores principales: Wright, Erin, Judd, Alexis, Stanke, Jennifer, Rush, Sarah, Pettee, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Craniopharyngioma and Rare Tumors
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715130/
http://dx.doi.org/10.1093/neuonc/noaa222.725

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715130/
http://dx.doi.org/10.1093/neuonc/noaa222.725

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