Constitutioneel ‘mismatch repair’-deficiëntiesyndroom

Marjolijn C. Jongmans; Corrie E. Gidding; Jan Loeffen; Pieter Wesseling; Arjen Mensenkamp; Nicoline Hoogerbrugge

Constitutioneel ‘mismatch repair’-deficiëntiesyndroom

Translated title of the contribution: Constitutional mismatch repair deficiency syndrome Background

Marjolijn C. Jongmans^*, Corrie E. Gidding, Jan Loeffen, Pieter Wesseling, Arjen Mensenkamp, Nicoline Hoogerbrugge

^*Corresponding author for this work

Section Oncogenetics

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Constitutional mismatch repair deficiency (CMMRD) 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 8yearold girl was diagnosed with CMMRD syndrome after she developed a brain tumour at the age of 4 and a Tcell nonHodgkin 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 CMMRD 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.

Translated title of the contribution	Constitutional mismatch repair deficiency syndrome Background
Original language	Dutch
Article number	A8602
Number of pages	6
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	159
Issue number	42
Publication status	Published - 2015

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title = "Constitutioneel {\textquoteleft}mismatch repair{\textquoteright}-defici{\"e}ntiesyndroom",

abstract = "Constitutional mismatch repair deficiency (CMMRD) 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 8yearold girl was diagnosed with CMMRD syndrome after she developed a brain tumour at the age of 4 and a Tcell nonHodgkin 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 CMMRD 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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journal = "Nederlands Tijdschrift voor Geneeskunde",

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AU - Jongmans, Marjolijn C.

AU - Gidding, Corrie E.

AU - Loeffen, Jan

AU - Wesseling, Pieter

AU - Mensenkamp, Arjen

AU - Hoogerbrugge, Nicoline

PY - 2015

Y1 - 2015

N2 - Constitutional mismatch repair deficiency (CMMRD) 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 8yearold girl was diagnosed with CMMRD syndrome after she developed a brain tumour at the age of 4 and a Tcell nonHodgkin 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 CMMRD 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.

AB - Constitutional mismatch repair deficiency (CMMRD) 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 8yearold girl was diagnosed with CMMRD syndrome after she developed a brain tumour at the age of 4 and a Tcell nonHodgkin 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 CMMRD 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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SN - 0028-2162

VL - 159

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

IS - 42

M1 - A8602

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Constitutioneel ‘mismatch repair’-deficiëntiesyndroom

Abstract

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