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Pediatric blood & cancer · Jun 2008
Case ReportsCafé-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
- Carl-Christian Jackson, Spring Holter, Aaron Pollett, Mark Clendenning, Shirley Chou, Leigha Senter, Raveena Ramphal, Steven Gallinger, and Kym Boycott.
- Division of General Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
- Pediatr Blood Cancer. 2008 Jun 1; 50 (6): 1268-70.
AbstractA 14-year-old male presented with a T4 sigmoid adenocarcinoma, <10 colonic adenomas and multiple café-au-lait macules. Family history was not suggestive of a dominant hereditary form of colorectal cancer. Evaluation of the tumor revealed abnormal immunohistochemical staining of the PMS2 protein and high frequency microsatellite instability. Germline analysis identified biallelic PMS2 missense mutations. A new cancer syndrome caused by biallelic mutations in the mismatch repair genes, including PMS2, is now emerging and is characterized by café-au-lait macules, colonic polyps and a distinctive tumor spectrum.(c) 2007 Wiley-Liss, Inc.
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