Cafe-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2

被引：19
作者：
Jackson, Carl-Christian [1 ]
Holter, Spring [2 ]
Pollett, Aaron [2 ]
Clendenning, Mark [3 ]
Chou, Shirley [1 ]
Senter, Leigha [3 ]
Ramphal, Raveena [4 ]
Gallinger, Steven [2 ]
Boycott, Kym [1 ,5 ]
机构：
[1] Childrens Hosp Eastern Ontario, Dept Med Genet, Div Gen Surg, Ottawa, ON K1H 8L1, Canada
[2] Mt Sinai Hosp, Familial GI Canc Registry, Toronto, ON M5G 1X5, Canada
[3] Ohio State Univ, Human Canc Genet Program, Comprehens Canc Ctr, Columbus, OH 43210 USA
[4] Childrens Hosp Eastern Ontario, Div Hematol, Ottawa, ON K1H 8L1, Canada
[5] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada
来源：
PEDIATRIC BLOOD & CANCER | 2008年 / 50卷 / 06期
关键词：
cafe-au-lait macules; inherited cancer syndrome; mismatch repair genes; neurofibromatosis type1; PMS2;
D O I：
10.1002/pbc.21514
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
A 14-year-old male presented with a T4 sigmoid adenocarcinoma, <10 colonic adenomas and multiple cafe-au-lait rnacules. 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 cafe-au-lait macules, colonic polyps and a distinctive tumor spectrum.
引用
收藏
页码：1268 / 1270
页数：3
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