A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

被引：47

作者：

Wimmer, Katharina ^{[1
]}

Beilken, Andreas ^{[2
]}

Nustede, Rainer ^{[3
]}

Ripperger, Tim ^{[4
]}

Lamottke, Britta ^{[2
]}

Ure, Benno ^{[3
]}

Steinmann, Diana ^{[5
]}

Reineke-Plaass, Tanja ^{[6
]}

Lehmann, Ulrich ^{[6
]}

Zschocke, Johannes ^{[1
]}

Valle, Laura ^{[7
]}

Fauth, Christine ^{[1
]}

Kratz, Christian P. ^{[2
]}

机构：

[1] Med Univ Innsbruck, Div Human Genet, Peter Mayr Str 1, A-6020 Innsbruck, Austria

[2] Hannover Med Sch, Pediat Hematol & Oncol, Hannover, Germany

[3] Hannover Med Sch, Childrens Hosp, Dept Surg, Hannover, Germany

[4] Hannover Med Sch, Inst Human Genet, Hannover, Germany

[5] Hannover Med Sch, Dept Radiotherapy & Special Oncol, Hannover, Germany

[6] Hannover Med Sch, Inst Pathol, Hannover, Germany

[7] IDIBELL, Catalan Inst Oncol, Hereditary Canc Program, Lhospitalet De Llobregat, Spain

来源：

FAMILIAL CANCER | 2017年 / 16卷 / 01期

关键词：

Polymerase proofreading-associated polyposis; Constitutional mismatch repair deficiency; Cafe-au-lait macule; Pilomatricoma; Colon cancer; EUROPEAN CONSORTIUM CARE; MICROSATELLITE INSTABILITY; ADENOMATOUS POLYPOSIS; POLYMERASE-EPSILON; COLORECTAL-CANCER; PILOMATRICOMAS; REPLICATION; DIAGNOSIS; CRITERIA; TUMORS;

D O I：

10.1007/s10689-016-9925-1

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

In a 14-year-old boy with polyposis and rectosigmoid carcinoma, we identified a novel POLE germline mutation, p.(Val411Leu), previously found as recurrent somatic mutation in 'ultramutated' sporadic cancers. This is the youngest reported cancer patient with polymerase proofreading-associated polyposis indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and POLD1 germline mutations. The patient had multiple caf,-au-lait macules and a pilomatricoma mimicking the clinical phenotype of constitutional mismatch repair deficiency. We hypothesize that these skin features may be common to different types of constitutional DNA repair defects associated with polyposis and early-onset cancer.

引用

页码：67 / 71

页数：5

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