Constitutional mismatch repair deficiency syndrome: Do we know it?
- PMID: 25400351
- PMCID: PMC4228574
- DOI: 10.4103/0971-6866.142902
Constitutional mismatch repair deficiency syndrome: Do we know it?
Abstract
Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature.
Keywords: Constitutional mismatch repair deficiency; Lynch syndrome; hereditary nonpolyposis colorectal cancer; mismatch repair genes.
Conflict of interest statement
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References
-
- Jiricny J. The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol. 2006;7:335–46. - PubMed
-
- Peltomäki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol. 2003;15(21):1174–9. - PubMed
-
- Ricciardone MD, Ozçelik T, Cevher B, Ozdag H, Tuncer M, Gürgey A, et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res. 1999;59:290–3. - PubMed
-
- Wang Q, Lasset C, Desseigne F, Frappaz D, Bergeron C, Navarro C, et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res. 1999;59:294–7. - PubMed
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