Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
| Autor: | Jackson CC; Division of General Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Holter S, Pollett A, Clendenning M, Chou S, Senter L, Ramphal R, Gallinger S, Boycott K |
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| Jazyk: | angličtina |
| Zdroj: | Pediatric blood & cancer [Pediatr Blood Cancer] 2008 Jun; Vol. 50 (6), pp. 1268-70. |
| DOI: | 10.1002/pbc.21514 |
| Abstrakt: | A 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.) |
| Databáze: | MEDLINE |
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