[Constitutional mismatch repair deficiency syndrome].
Copyright policy )[Constitutional mismatch repair deficiency syndrome].
BACKGROUND: Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. CASE DESCRIPTION: An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. CONCLUSION: In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.
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- Radboud University Nijmegen Netherlands
Brain Neoplasms, Lymphoma, Non-Hodgkin, Radboudumc 9: Rare cancers RIMLS: Radboud Institute for Molecular Life Sciences, DNA-Binding Proteins, Neoplasms, Multiple Primary, Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences, Fatal Outcome, Neoplastic Syndromes, Hereditary, Mutation, Humans, Female, Child, Colorectal Neoplasms
Brain Neoplasms, Lymphoma, Non-Hodgkin, Radboudumc 9: Rare cancers RIMLS: Radboud Institute for Molecular Life Sciences, DNA-Binding Proteins, Neoplasms, Multiple Primary, Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences, Fatal Outcome, Neoplastic Syndromes, Hereditary, Mutation, Humans, Female, Child, Colorectal Neoplasms
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