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Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
- Source :
-
Pediatric blood & cancer [Pediatr Blood Cancer] 2008 Jun; Vol. 50 (6), pp. 1268-70. - Publication Year :
- 2008
-
Abstract
- 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.<br /> ((c) 2007 Wiley-Liss, Inc.)
- Subjects :
- Adolescent
Alleles
Cafe-au-Lait Spots complications
Colorectal Neoplasms, Hereditary Nonpolyposis complications
Humans
Male
Mismatch Repair Endonuclease PMS2
Pedigree
Adenosine Triphosphatases genetics
Cafe-au-Lait Spots genetics
Colorectal Neoplasms, Hereditary Nonpolyposis genetics
DNA Mismatch Repair
DNA Repair Enzymes genetics
DNA-Binding Proteins genetics
Germ-Line Mutation
Mutation, Missense
Subjects
Details
- Language :
- English
- ISSN :
- 1545-5017
- Volume :
- 50
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Pediatric blood & cancer
- Publication Type :
- Academic Journal
- Accession number :
- 18273873
- Full Text :
- https://doi.org/10.1002/pbc.21514