Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.

@article{Ripperger2010ConstitutionalMR,
  title={Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.},
  author={Tim Ripperger and Carmela Beger and Nils Rahner and Karl Walter Sykora and Clemens L Bockmeyer and Ulrich Lehmann and Hans Kreipe and Brigitte Schlegelberger},
  journal={Haematologica},
  year={2010},
  volume={95 5},
  pages={841-4}
}
Biallelic mutations of mismatch repair genes cause constitutional mismatch repair deficiency associated with an increased risk for childhood leukemia/lymphoma. We report on a case with constitutional mismatch repair deficiency caused by a novel MSH6 mutation leading to a T-cell lymphoma and colonic adenocarcinoma at six and 13 years of age, respectively. A review of the literature on hematologic malignancies in constitutional mismatch repair deficiency showed that in almost half of the 47 known… CONTINUE READING

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