High-Grade Brain Tumors in Siblings With Biallelic MSH6 Mutations

被引：28

作者：

Ilencikova, Denisa ^{[1
]}

Sejnova, Daniela ^{[2
,3
]}

Jindrova, Jana ^{[2
,3
]}

Babal, Pavel ^{[4
]}

机构：

[1] Comenius Univ, Children Univ Hosp, Dept Pediat 2, Bratislava, Slovakia

[2] Comenius Univ, Sch Med, Fac Med, Dept Pediat Oncol, Bratislava, Slovakia

[3] Univ Childrens Hosp, Bratislava, Slovakia

[4] Comenius Univ, Fac Med, Dept Pathol, Bratislava, Slovakia

来源：

PEDIATRIC BLOOD & CANCER | 2011年 / 57卷 / 06期

关键词：

childhood T-NHL; constitutional mismatch repair-deficiency syndrome (CMMR-D); high-grade brain tumors; MSH6; REPAIR-DEFICIENCY SYNDROME;

D O I：

10.1002/pbc.23217

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

Biallelic germline mutations of Constitutional mismatch repair-deficiency syndrome (CMMR-D) genes, MLH1, MSH2, MSH6, and PMS2 are characterized by increased risk of childhood malignancy. We report a case with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri and T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review on brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Identification of patients with CMMR-D is critical, and specific cancer screening programs with early surgery are recommended. Pediatr Blood Cancer 2011;57:1067-1070. (C) 2011 Wiley-Liss, Inc.

引用

页码：1067 / 1070

页数：4

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