Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome.

We report the pedigree of a consanguineous family with four affected children. Although clinical and molecular tests confirm CMMRD, genetic testing revealed heterogeneous mutations. The index case developed severe toxicity from therapy for glioblastoma and T-cell leukemia and died from an infection while in complete remission. His sister developed a malignant brain tumor while undergoing surveillance for a low grade brain lesion and is still undergoing follow-up. This family illustrates the difficulties and opportunities with challenging diagnosis, surveillance and choice of therapy for children with CMMRD and the need for increased awareness and more information about this rare but important syndrome.
PMID: 31233827 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - June 20, 2019 Category: Genetics & Stem Cells Authors: Farah RA, Maalouf F, Chahine NA, Farhat H, Campbell B, Zhukova N, Durno C, Aronson M, Hawkins C, Bouffet E, Tabori U Tags: Eur J Med Genet Source Type: research